Publications

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation

Alao EO, Sheibani M, Wu J, Marriam U, Evans D, Kasiri S, Verma M, Nitschke S, Nitschke F, Gray SJ, Mitra S, Minassian BA 2026 Mar Neurotherapeutics 23

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly

Xu H, Liu Z, Hamdan FF, Wu S, He M, Wang D, Pan H, Hu J, Chen Y, Michaud JL, Minassian BA, Duan J, Liao J, Su J, Hu S, Peng Y, Ye Q, Chen L 2026 Jan Human Genetics and Genomics Advances 7

First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial

Greenberg BM, Minassian B, Messahel S, Edgar VB, Lowden A, Dahshi H, Nettesheim ER, Nguyen HH, Hughes S, Muthukumar AR, Srinivasan K, Iannaccone S, Varadarajan G, Gray SJ, Kayani SN 2026 Jan EBioMedicine 123

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

Muccioli L, Ganceviciute B, Becker F, Minardi R, Tappatà M, Bachhuber F, Alkhatib M, Cirak S, Weishaupt J, Verma M, Tumani H, Wagner J, Messahel S, Nitschke F, Minassian BA, Bisulli F, Brenner D 2025 Dec Neurology: Genetics 11 e200319

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

Williams MI, Donohue KJ, Sanz P, Messahel S, Serratosa JM, Duran J, Michelucci R, Muccioli L, Delgado-Escueta A, Nguyen VH, Minassian BA, Gentry MS 2025 Oct Epilepsy and Behavior 171

Sleep architecture and qEEG patterns in PME type 1 diagnosis

Pophal E, Taha M, Doll E, Nordli DR, Minassian B, Nordli DR 2025 Oct Epileptic Disorders 27 1032-1037

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M 2025 Sep Annals of Neurology 98 448-470

Targeting the trunk of multi-root common epilepsy with gene therapy

Sheibani M, Minassian BA 2025 Jun Molecular Therapy Methods and Clinical Development 33

Lithium exacerbates Lafora body formation in the Epm2a-/- Lafora disease mouse model

Wu J, Lynn TC, Nitschke S, Mitra S, Minassian BA 2025 May Neuroscience letters 856-858

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity

Gumusgoz E, Kasiri S, Youssef I, Verma M, Chopra R, Villarreal Acha D, Wu J, Marriam U, Alao E, Chen X, Guisso DR, Gray SJ, Shah BR, Minassian BA 2025 May Gene Therapy 32 237-245

SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype

Kayani S, Daescu V, Dahshi H, Messahel S, Woleban K, Minassian BA, Ling Q, Gray SJ 2025 Apr American Journal of Medical Genetics, Part A 197

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

Nitschke S, Montalbano AP, Whiting ME, Smith BH, Mukherjee-Roy N, Marchioni CR, Sullivan MA, Zhao X, Wang P, Mount H, Verma M, Minassian BA, Nitschke F 2025 Mar EMBO Journal 44 1379-1413

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Author Collaboration UD, Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Minassian BA 2024 Dec Nature communications 15

GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice

Aisyah R, Ohshima N, Watanabe D, Nakagawa Y, Sakuma T, Nitschke F, Nakamura M, Sato K, Nakahata K, Yokoyama C, Marchioni CR, Kumrungsee T, Shimizu T, Sotomaru Y, Takeo T, Nakagata N, Izumi T, Miura S, Minassian BA, Yamamoto T, Wada M, Yanaka N 2024 Dec Communications Biology 7

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills

Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM 2024 Dec Orphanet Journal of Rare Diseases 19

Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior

Krishnan V, Wu J, Mazumder AG, Kamen JL, Schirmer C, Adhyapak N, Bass JS, Lee SC, Maheshwari A, Molinaro G, Gibson JR, Huber KM, Minassian BA 2024 Jul Journal of Comparative Neurology 532

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ 2024 Jul Nature medicine 30 1882-1887

Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses

Mitra S, Chen B, Shelton JM, Nitschke S, Wu J, Covington L, Dear M, Lynn T, Verma M, Nitschke F, Fuseya Y, Iwai K, Evers BM, Minassian BA 2024 Jun Acta Neuropathologica 147

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

Wu J, Kakhlon O, Weil M, Lossos A, Minassian BA 2024 May EMBO Molecular Medicine 16 1047-1050

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy

Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, Fyffe-Maricich S, Lin A, Chen X, Gray SJ, Minassian BA 2024 May Gene Therapy 31 234-241

Mitochondrial encephalopathies and myopathies: Our tertiary center's experience

Ozlu C, Messahel S, Minassian B, Kayani S 2024 May European Journal of Paediatric Neurology 50 31-40

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature

Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SM, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal U, Bylappa AY, Konanki R, Lingappa L, Parchuri B, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P 2024 Mar Epilepsia 65 709-724

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances

Zimmern V, Minassian B 2024 Feb Genes 15

1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease

Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA 2024 Brain Communications 6

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model

Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LE, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS 2023 Oct Neurotherapeutics 20 1808-1819

Unraveling the role of non-coding rare variants in epilepsy

Girard A, Moreau C, Michaud JL, Minassian B, Cossette P, Girard SL 2023 Sep PloS one 18

Unverricht-Lundborg disease

Verma M, Minassian BA, Andrade DM 2023 Jun 375-381

Retinal Phenotyping of a Murine Model of Lafora Disease

Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA 2023 Apr Genes 14

Natural History of SURF1 Deficiency: A Retrospective Chart Review

Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S 2023 Mar Pediatric Neurology 140 40-46

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy

Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA 2023 Jan DMM Disease Models and Mechanisms 16

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM 2022 Sep Genes 13

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JP, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, Digiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA 2022 Jul Brain 145 2361-2377

The role of common genetic variation in presumed monogenic epilepsies

Author Collaboration TE, Author Collaboration GE, Author Collaboration TE, Campbell C, Leu C, Feng YC, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L, Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL 2022 Jul EBioMedicine 81

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D’Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P 2022 Jul Journal of neurology 269 3597-3604

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

Moreau C, Tremblay F, Wolking S, Girard A, Laprise C, Hamdan FF, Michaud JL, Minassian BA, Cossette P, Girard SL 2022 Jul Annals of Clinical and Translational Neurology 9 1050-1058

Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies

Goodspeed K, Bailey RM, Prasad S, Sadhu C, Cardenas JA, Holmay M, Bilder DA, Minassian BA 2022 Jun Frontiers in Neurology 13

Lafora disease: Current biology and therapeutic approaches

Mitra S, Gumusgoz E, Minassian BA 2022 Apr Revue Neurologique 178 315-325

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Gumusgoz E, Kasiri S, Guisso DR, Wu J, Dear M, Verhalen B, Minassian BA 2022 Apr Neurotherapeutics 19 982-993

A Review of Targeted Therapies for Monogenic Epilepsy Syndromes

Zimmern V, Minassian B, Korff C 2022 Feb Frontiers in Neurology 13

LUBAC: A new player in polyglucosan body disease

Aboujaoude A, Minassian B, Mitra S 2021 Nov Biochemical Society Transactions 49 2443-2454

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

Kakhlon O, Vaknin H, Mishra K, D’Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da’adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M 2021 Oct EMBO Molecular Medicine 13

Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

Ahonen S, Nitschke S, Grossman TR, Kordasiewicz H, Wang P, Zhao X, Guisso DR, Kasiri S, Nitschke F, Minassian BA 2021 Oct Brain 144 2985-2993

EPM2A in-frame deletion slows neurological decline in Lafora Disease

Lomax LB, Verhalen B, Minassian BA 2021 Oct Seizure 91 97-98

Retinal alterations in patients with Lafora disease

Heitkotter H, Linderman RE, Cava JA, Woertz EN, Mastey RR, Summerfelt P, Chui TY, Rosen RB, Patterson EJ, Vincent A, Carroll J, Minassian BA 2021 Sep American Journal of Ophthalmology Case Reports 23

Canine lafora disease: An unstable repeat expansion disorder

von Klopmann T, Ahonen S, Espadas-Santiuste I, Matiasek K, Sanchez-Masian D, Rupp S, Vandenberghe H, Rose J, Wang T, Wang P, Minassian BA, Rusbridge C 2021 Jul Life 11

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

Israelian L, Nitschke S, Wang P, Zhao X, Perri AM, Lee JP, Verhalen B, Nitschke F, Minassian BA 2021 Jun Journal of Neurochemistry 157 1897-1910

The antioxidant MnTBAP does not effectively downregulate CD4 expression in T cells in vivo

Manouchehri N, Guisso DR, Hussain RZ, Minassian BA, Stüve O 2021 May Journal of Neuroimmunology 354

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

Author Collaboration IL, Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P 2021 May Journal of the Neurological Sciences 424

251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

Author Collaboration E2, Laforêt P, Oldfors A, Malfatti E, Vissing J, Colle MA, Duran J, Gentry M, Guinovart J, Hurley T, Kakhlon O, Krag T, Landy H, Lilleør CB, Minassian B, Mingozzi F, Murphy E, Piercy R, Piraud M, Ramanan V, Stemmerik M, Thomsen C, Weil M 2021 May Neuromuscular Disorders 31 466-477

Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Gumusgoz E, Guisso DR, Kasiri S, Wu J, Dear M, Verhalen B, Nitschke S, Mitra S, Nitschke F, Minassian BA 2021 Apr Neurotherapeutics 18 1414-1425

An inducible glycogen synthase-1 knockout halts but does not reverse lafora disease progression in mice

Nitschke S, Chown EE, Xiaochu Z, Gabrielian S, Petkovic S, Guisso DR, Perri AM, Wang P, Ahonen S, Nitschke F, Minassian BA 2021 Jan Journal of Biological Chemistry 296

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome

Alkhater RA, Ahonen S, Minassian BA 2021 Jan Annals of Clinical and Translational Neurology 8 252-258

Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapy

Sugiman-Marangos SN, Beilhartz GL, Zhao X, Zhou D, Hua R, Kim PK, Rini JM, Minassian BA, Melnyk RA 2020 Dec Science Advances 6

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ 2020 Dec Hepatology 72 1968-1986

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Gut P, Matilainen S, Meyer JG, Pällijeff P, Richard J, Carroll CJ, Euro L, Jackson CB, Isohanni P, Minassian BA, Alkhater RA, Østergaard E, Civiletto G, Parisi A, Thevenet J, Rardin MJ, He W, Nishida Y, Newman JC, Liu X, Christen S, Moco S, Locasale JW, Schilling B, Suomalainen A, Verdin E 2020 Dec Nature communications 11

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA 2020 Nov Annals of Clinical and Translational Neurology 7 2186-2198

Sensitive quantification of a-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid

Nitschke S, Petkovic S, Ahonen S, Minassian BA, Nitschke F 2020 Oct Journal of Biological Chemistry 295 14698-14709

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA 2020 Aug Acta Neuropathologica 140 231-235

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N 2020 Jul Epilepsia 61 e71-e78

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Willemsen MH, Goel H, Verhoeven JS, Braakman HM, de Leeuw N, Freeth A, Minassian BA 2020 Jun Epilepsia Open 5 301-306

Emerging treatments for progressive myoclonus epilepsies

Riva A, Guglielmo A, Balagura G, Marchese F, Amadori E, Iacomino M, Minassian BA, Zara F, Striano P 2020 Apr Expert review of neurotherapeutics 20 341-350

From Genetic Testing to Precision Medicine in Epilepsy

Striano P, Minassian BA 2020 Apr Neurotherapeutics 17 609-615

Sexually Divergent Mortality and Partial Phenotypic Rescue after Gene Therapy in a Mouse Model of Dravet Syndrome

Niibori Y, Lee SJ, Minassian BA, Hampson DR 2020 Mar Human gene therapy 31 339-351

The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic

Gentry MS, Afawi Z, Armstrong DD, Delgado-Escueta A, Goldberg YP, Grossman TR, Guinovart JJ, Harris F, Hurley TD, Michelucci R, Minassian BA, Sanz P, Worby CA, Serratosa JM 2020 Feb Epilepsy and Behavior 103

What Is Epilepsy?

Minassian B, Lewis E, Whitney R 2020 Jan 2123-2141

Polygenic risk scores of several subtypes of epilepsies in a founder population

Moreau C, Rébillard RM, Wolking S, Michaud J, Tremblay F, Girard A, Bouchard J, Minassian B, Laprise C, Cossette P, Girard SL 2020 Neurology: Genetics 6

Ketogenic diet reduces: Lafora bodies in murine Lafora disease

Israelian L, Wang P, Gabrielian S, Zhao X, Minassian BA 2020 Neurology: Genetics 6

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe PD, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A 2019 Dec npj Genomic Medicine 4

Genotypes and phenotypes of patients with Lafora disease living in Germany

Brenner D, Baumgartner T, Von Spiczak S, Lewerenz J, Weis R, Grimmer A, Gaspirova P, Wurster CD, Kunz WS, Wagner J, Minassian BA, Elger CE, Ludolph AC, Biskup S, Döcker D 2019 Nov Neurological Research and Practice 1

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy

Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P 2019 Oct Seizure 71 247-257

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E 2019 Sep Epilepsia 60 1881-1894

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (Genetics in Medicine, (2019), 21, 4, (837-849), 10.1038/s41436-018-0268-1)

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon ME, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C 2019 Aug Genetics in Medicine 21 1897-1898

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JP, Vilaplana F, Minassian BA, Nitschke F 2019 Apr Cell Reports 27 1334-1344.e6

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon ME, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C 2019 Apr Genetics in Medicine 21 837-849

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA 2019 Apr Annals of Clinical and Translational Neurology 6 807-811

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis

Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA 2019 Feb Epileptic Disorders 21 30-41

Lafora Body Disease

Minassian BA, Striano P 2019 Jan 336-341

MYORG is associated with recessive primary familial brain calcification

Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V 2019 Jan Annals of Clinical and Translational Neurology 6 106-113

Diabetes mellitus in a patient with lafora disease: Possible links with pancreatic β-cell dysfunction and insulin resistance

Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K 2019 Frontiers in Pediatrics 6

Optical coherence tomography features in brothers with aspartylglucosaminuria

Goodspeed K, Harder LL, Hughes S, Conger D, Taravella J, Gray SJ, Minassian BA 2018 Dec Annals of Clinical and Translational Neurology 5 1622-1626

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

Alkhater RA, Scherer SW, Minassian BA, Walker S 2018 Dec Annals of Clinical and Translational Neurology 5 1617-1621

Lafora disease — from pathogenesis to treatment strategies

Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA 2018 Oct Nature Reviews Neurology 14 606-617

Chorea-acanthocytosis

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA 2018 Jun Neurology: Genetics 4

Extraneurological sparing in long-lived typical Lafora disease

Goldsmith D, Minassian BA 2018 Jun Epilepsia Open 3 295-298

Lafora disease offers a unique window into neuronal glycogen metabolism

Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM 2018 May Journal of Biological Chemistry 293 7117-7125

Genomic context analysis of de novo STXBP1 mutations identifies evidence of splice site DNA-motif associated hotspots

Uddin M, Woodbury-Smith M, Chan AJ, Albanna A, Minassian B, Boelman C, Scherer SW 2018 Apr G3: Genes, Genomes, Genetics 8 1115-1118

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P 2018 Apr PLoS genetics 14

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A “window to the brain”

Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian BA 2018 Neurology 91 137-139

Lafora Disease: A Review of Molecular Mechanisms and Pathology

Verhalen B, Arnold S, Minassian BA 2018 Neuropediatrics 49 357-362

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Author Collaboration DD, Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Minassian BA 2017 Nov American Journal of Human Genetics 101 664-685

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease

Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O 2017 Oct Biochemical Journal 474 3403-3420

Clinical/Scientific Notes: Hyperventilation-athetosis in ASXL3 deficiency (bainbridge-ropers) syndrome

Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA 2017 Oct Neurology: Genetics 3

Understanding the brain one amino acid at a time – The case of the FHF1 R52H encephalopathy

Minassian BA 2017 Sep European Journal of Paediatric Neurology 21 699-700

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force

Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 2017 Sep Epilepsia 58 1502-1517

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26

Dad R, Malik U, Javed A, Minassian BA, Hassan MJ 2017 Aug Gene 626 258-263

Pathogenesis of lafora disease: Transition of soluble glycogen to insoluble polyglucosan

Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F 2017 Aug International journal of molecular sciences 18

Lafora disease in miniature Wirehaired Dachshunds

Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C 2017 Aug PloS one 12

ARHGEF9 disease

Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA 2017 Jul Neurology: Genetics 3

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype

Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA 2017 Jul Neurology: Genetics 3

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA 2017 Jul EMBO Molecular Medicine 9 906-917

Genome annotation for clinical genomic diagnostics: Strengths and weaknesses

Steward CA, Parker AP, Minassian BA, Sisodiya SM, Frankish A, Harrow J 2017 May Genome Medicine 9

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA 2017 Feb Neuromuscular Disorders 27 185-187

Update on pharmacological treatment of progressive myoclonus epilepsies

Ferlazzo E, Trenite DK, de Haan GJ, Nitschke F, Ahonen S, Gasparini S, Minassian BA 2017 Jan Current Pharmaceutical Design 23 5662-5666

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Ada Chan C, Ledia Brunga B, Lamoureux S, Faheem M, James Drake D, Adam Shlien S, Turner LA, Scherer SW, Minassian BA, Marshall CR, Hawkins C, Hahn CD, Stavropoulos DJ, Yuen RK, Pellecchia G, Woodbury-Smith M, Mohammed Uddin U, Cyrus Boelman B 2017 Neurology: Genetics 3

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS 2016 Dec American Journal of Human Genetics 99 1359-1367

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Author Collaboration EM, de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP, Davila C, Obregia A, De Jonghe P, Guerrini R, Lehesjoki AE, Marini C, Muhle H, Neubauer B, Pal D, Selmer K, Stephani U, Sterbova K, Talvik T, von Spiczak S, Caglayan H, Weber Y, Hoffman-Zacharska D 2016 Dec Journal of medical genetics 53 850-858

NHLRC1 repeat expansion in two beagles with Lafora disease

Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V 2016 Nov Journal of Small Animal Practice 57 650-652

Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA

Ackerley CA, Cooper MA, Munoz DG, Minassian BA 2016 Sep Neurology 87 1417-1419

Efficacy and tolerability of perampanel in ten patients with Lafora disease

Goldsmith D, Minassian BA 2016 Sep Epilepsy and Behavior 62 132-135

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA 2016 Feb Neurology: Genetics 2

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Klionsky DJ, Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Arozena AA, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Aguirre-Ghiso J, Airoldi EM, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR, Beck GR, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Bianchi MW, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San-Pedro JM, Bravosan-Pedro JM, Bravosan-Pedro JM, Bravosan-Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bulavin DV, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cecconi F, Cecconi F, Cederbaum AI, Ceña V, Ceña V, Cenci S, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chiariello M, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi EK, Choi EK, Choi EK, Choi J, Choi ME, Choi SI, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Colecchia D, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Valle LD, Dalmasso G, D'amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, Di Antonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM, Donohue-Jr TM, Doran KS, D'orazi G, Dorn GW, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA, Dupont N, Dupuis L, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fairlie WD, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Filomeni G, Fimia GM, Fimia GM, Fingert JH, Fingert JH, Finkbeiner S, Finkbeiner S, Finkel T, Fiorito F, Fiorito F, Fisher PB, Flajolet M, Flamigni F, Florey O, Florio S, Floto RA, Folini M, Follo C, Fon EA, Fornai F, Fornai F, Fortunato F, Fraldi A, Franco R, Francois A, Francois A, François A, Frankel LB, Fraser ID, Frey N, Freyssenet DG, Frezza C, Friedman SL, Frigo DE, Frigo DE, Fu D, Fuentes JM, Fueyo J, Fujitani Y, Fujiwara Y, Fujiya M, Fukuda M, Fulda S, Fusco C, Gabryel B, Gaestel M, Gailly P, Gajewska M, Galadari S, Galadari S, Galili G, Galindo I, Galindo MF, Galliciotti G, Galluzzi L, Galluzzi L, Galluzzi L, Galluzzi L, Galluzzi L, Galy V, Gammoh N, Gandy S, Gandy S, Ganesan AK, Ganesan S, Ganley IG, Gannagé M, Gao FB, Gao F, Gao JX, Nannig LG, Véscovi EG, Garcia-Macía M, Garcia-Ruiz C, Garg AD, Garg PK, Gargini R, Gassen NC, Gatica D, Gatica D, Gatti E, Gatti E, Gatti E, Gavard J, Gavathiotis E, Ge L, Ge P, Ge S, Gean PW, Gelmetti V, Genazzani AA, Geng J, Genschik P, Gerner L, Gestwicki JE, Gewirtz DA, Ghavami S, Ghigo E, Ghosh D, Giammarioli AM, Giammarioli AM, Giampieri F, Giampietri C, Giatromanolaki A, Gibbings DJ, Gibellini L, Gibson SB, Ginet V, Giordano A, Giordano A, Giorgini F, Giovannetti E, Giovannetti E, Girardin SE, Gispert S, Giuliano S, Giuliano S, Gladson CL, Glavic A, Gleave M, Godefroy N, Gogal RM, Gokulan K, Goldman GH, Goletti D, Goligorsky MS, Gomes AV, Gomes LC, Gomez H, Gomez-Manzano C, Gómez-Sánchez R, Gonçalves DA, Goncu E, Gong Q, Gongora C, Gonzalez CB, Gonzalez-Alegre P, Gonzalez-Cabo P, Gonzalez-Cabo P, González-Polo RA, Goping IS, Gorbea C, Gorbunov NV, Goring DR, Gorman AM, Gorski SM, Gorski SM, Goruppi S, Goto-Yamada S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graba Y, Graef M, Granato GE, Grant GD, Grant S, Gravina GL, Green DR, Greenhough A, Greenwood MT, Grimaldi B, Gros F, Grose C, Groulx JF, Gruber F, Hill JA, Grumati P, Grune T, Guan JL, Guan KL, Guerra B, Guillen C, Guillen C, Gulshan K, Gunst J, Guo C, Guo L, Guo M, Guo W, Guo XG, Gust AA, Gustafsson ÅB, Gutierrez E, Gutierrez MG, Hu MC, Haas A, Haber JE, Hadano S, Hagedorn M, Hahn DR, Halayko AJ, Hamacher-Brady A, Hamada K, Hamai A, Hamann A, Hamasaki M, Hamer I, Hamid Q, Hammond EM, Han F, Han W, Handa JT, Hanover JA, Hansen M, Harada M, Harhaji-Trajkovic L, Harper JW, Harrath AH, Harris AL, Harris J, Hasler U, Hasselblatt P, Hasui K, Hawley RG, Hawley TS, He C, He CY, He F, He G, He RR, He XH, He YW, He YY, Heath JK, Hébert MJ, Heinzen RA, Helgason GV, Hensel M, Henske EP, Her C, Herman PK, Hernández A, Hernandez C, Hernández-Tiedra S, Hetz C, Hetz C, Hiesinger PR, Higaki K, Hilfiker S, Hill BG, Hill JA, Hill WD, Hill WD, Hill WD, Hill WD, Hino K, Hofius D, Hofman P, Höglinger GU, Höglinger GU, Höhfeld J, Holz MK, Holz MK, Hong Y, Hood DA, Hoozemans JJ, Hoppe T, Hsu C, Hsu CY, Hsu LC, Hu D, Hu G, Hu HM, Hu H, Hu MC, Hu YC, Hu ZW, Hua F, Hua Y, Huang C, Huang C, Huang HL, Huang KH, Huang KY, Huang S, Huang S, Huang WP, Huang YR, Huang Y, Huang Y, Huber TB, Huber TB, Huber TB, Huebbe P, Huh WK, Hulmi JJ, Hulmi JJ, Hur GM, Hurley JH, Husak Z, Hussain SN, Hussain SN, Hussain S, Hwang JJ, Hwang S, Hwang TI, Ichihara A, Imai Y, Imbriano C, Inomata M, Into T, Iovane V, Iovanna JL, Iozzo RV, Ip NY, Irazoqui JE, Iribarren P, Isaka Y, Isakovic AJ, Ischiropoulos H, Ischiropoulos H, Isenberg JS, Ishaq M, Ishida H, Ishii I, Ishmael JE, Isidoro C, Isobe KI, Isono E, Issazadeh-Navikas S, Itahana K, Itakura E, Ivanov AI, Iyer AK, Izquierdo JM, Izumi Y, Izzo V, Izzo V, Izzo V, Izzo V, Jäättelä M, Jaber N, Jackson DJ, Jackson WT, Jacob TG, Jacques TS, Jagannath C, Jain A, Jain A, Jana NR, Jang BK, Jani A, Jani A, Janji B, Jannig PR, Jansson PJ, Jean S, Jendrach M, Jeon JH, Jessen N, Jeung EB, Jia K, Jia L, Jiang H, Jiang H, Jiang L, Jiang T, Jiang X, Jiang X, Jiang X, Jiang Y, Jiang Y, Jiang Y, Jiang Y, Jiménez A, Jin C, Jin H, Jin L, Jin M, Jin M, Jin S, Jinwal UK, Jo EK, Johansen T, Johnson DE, Johnson GV, Johnson JD, Jonasch E, Jones C, Joosten LA, Jordan J, Joseph AM, Joseph B, Joubert AM, Ju D, Ju J, Juan HF, Juenemann K, Juhász G, Jung HS, Jung JU, Jung YK, Jungbluth H, Jungbluth H, Jungbluth H, Justice MJ, Justice MJ, Jutten B, Kaakoush NO, Kaarniranta K, Kaasik A, Kabuta T, Kaeffer B, Kågedal K, Kahana A, Kajimura S, Kakhlon O, Kalia M, Kalvakolanu DV, Kamada Y, Kambas K, Kaminskyy VO, Kampinga HH, Kandouz M, Kang C, Kang C, Kang R, Kang TC, Kramer H, Kanneganti TD, Kanno H, Kanthasamy AG, Kantorow M, 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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

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Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

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Wilkinson DS, Wilkinson S, Willbold D, Williams C, Williams K, Williamson PR, Winklhofer KF, Witkin SS, Wohlgemuth SE, Wollert T, Wolvetang EJ, Wong E, Wong GW, Wong RW, Wong VK, Woodcock EA, Wright KL, Wu C, Wu D, Wu GS, Wu J, Wu J, Wu M, Wu M, Wu S, Wu WK, Wu Y, Wu Z, Xavier CP, Xavier RJ, Xia GX, Xia T, Xia W, Xia Y, Xiao H, Xiao J, Xiao S, Xiao W, Xie CM, Xie Z, Xie Z, Xilouri M, Xiong Y, Xu C, Xu C, Xu F, Xu H, Xu H, Xu J, Xu J, Xu J, Xu L, Xu X, Xu Y, Xu Y, Xu ZX, Xu Z, Xue Y, Yamada T, Yamamoto A, Yamanaka K, Yamashina S, Yamashiro S, Yan B, Yan B, Yan X, Yan Z, Yanagi Y, Yang DS, Yang JM, Yang L, Yang M, Yang PM, Yang P, Yang Q, Yang W, Yang WY, Yang X, Yang Y, Yang Y, Yang Z, Yang Z, Yao MC, Yao PJ, Yao X, Yao Z, Yao Z, Yasui LS, Ye M, Yedvobnick B, Yeganeh B, Yeh ES, Yeyati PL, Yi F, Yi L, Yin XM, Yip CK, Yoo YM, Yoo YH, Yoon SY, Yoshida KI, Yoshimori T, Young KH, Yu H, Yu JJ, Yu JT, Yu J, Yu L, Yu WH, Yu XF, Yu Z, Yuan J, Yuan ZM, Yue BY, Yue J, Yue Z, Zacks DN, Zacksenhaus E, Zaffaroni N, Zaglia T, Zakeri Z, Zecchini V, Zeng J, Zeng M, Zeng Q, Zervos AS, Zhang DD, Zhang F, Zhang G, Zhang GC, Zhang H, Zhang H, Zhang H, Zhang J, Zhang J, Zhang J, Zhang JP, Zhang L, Zhang L, Zhang L, Zhang MY, Zhang X, Zhang XD, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhao M, Zhao WL, Zhao X, Zhao YG, Zhao Y, Zhao Y, Zhao YX, Zhao Z, Zhao ZJ, Zheng D, Zheng XL, Zheng X, Zhivotovsky B, Zhong Q, Zhou GZ, Zhou G, Zhou H, Zhou SF, Zhou XJ, Zhu H, Zhu H, Zhu WG, Zhu W, Zhu XF, Zhu Y, Zhuang SM, Zhuang X, Ziparo E, Zois CE, Zoladek T, Zong WX, Zorzano A, Zughaier SM 2016 Jan Autophagy 12 443

Neuronal ceroid lipofuscinoses

Nita DA, Mole SE, Minassian BA 2016 Epileptic Disorders 18 S73-S88

Progressive Myoclonus Epilepsy: The Gene-Empowered Era

Minassian BA, Striano P, Avanzini G 2016 Epileptic Disorders 18 S1-S2

FHF1 (FGF12) epileptic encephalopathy

Al-Mehmadi S, Splitt M, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA 2016 Neurology: Genetics 2

Everolimus does not prevent Lafora body formation in Murine Lafora disease

Mishra N, Wang P, Goldsmith D, Zhao X, Xue Y, Christians U, Minassian BA 2016 Neurology: Genetics 3

The history of progressive myoclonus epilepsies

Genton P, Striano P, Minassian BA 2016 Epileptic Disorders 18 S3-S10

Post-modern therapeutic approaches for progressive myoclonus epilepsy

Minassian BA 2016 Epileptic Disorders 18 S154-S158

Lafora disease

Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA 2016 Epileptic Disorders 18 S38-S62

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS, Mercimek-Mahmutoglu S 2015 Dec Molecular Genetics and Genomics 290 2163-2171

Clinical/scientific notes

Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM 2015 Dec Neurology: Genetics 1

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB 2015 Nov Journal of child neurology 30 1749-1756

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM 2015 Oct Brain 138 2859-2874

Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial Toxin

Auger A, Park M, Nitschke F, Minassian LM, Beilhartz GL, Minassian BA, Melnyk RA 2015 Aug Molecular Pharmaceutics 12 2962-2971

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA 2015 Jul Acta Neuropathologica Communications 3 44

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

DesRoches CL, Patel J, Wang P, Minassian B, Salomons GS, Marshall CR, Mercimek-Mahmutoglu S 2015 Jul Gene 565 187-191

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design

Sean Froese D, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, Von Delft F, Kakhlon O, Yue WW 2015 Jun Human molecular genetics 24 5667-5676

No cardiomyopathy in X-linked myopathy with excessive autophagy

Saraste A, Koskenvuo JW, Airaksinen J, Ramachandran N, Munteanu I, Udd B, Huovinen S, Kalimo H, Minassian BA 2015 Jun Neuromuscular Disorders 25 485-487

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 2015 May Epilepsia 56 707-716

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy

Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA 2015 Apr Neurology 84 1714-1716

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

Orhan Akman H, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA 2015 Apr JAMA neurology 72 441-445

Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis

Liba Z, Muthaffar O, Tang J, Minassian B, Halliday W, Branson H, Ann Yeh E 2015 Apr Neurology: Neuroimmunology and NeuroInflammation 2 e69

Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

Ruggieri A, Ramachandran N, Wang P, Haan E, Kneebone C, Manavis J, Morandi L, Moroni I, Blumbergs P, Mora M, Minassian BA 2015 Mar Neuromuscular Disorders 25 207-211

Autophagy in neuropathology

Minassian BA, Kalimo H 2015 Mar Acta Neuropathologica 129 333-335

Dimeric quaternary structure of human laforin

Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G 2015 Feb Journal of Biological Chemistry 290 4552-4559

X-linked myopathy with excessive autophagy: a failure of self-eating

Dowling JJ, Moore SA, Kalimo H, Minassian BA 2015 Feb Acta Neuropathologica 129 383-390

TWO DEFINITE CASES OF SUDDEN UNEXPECTED DEATH IN EPILEPSY IN A FAMILY WITH A DEPDC5 MUTATION

Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM 2015 Neurology: Genetics 1

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes

Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA 2014 Dec Pediatric Neurology 51 850-853

Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-Lõpez R, Franceschetti S, Aguglia U 2014 Dec Epilepsia 55 e129-e133

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA 2014 Nov Annals of Neurology 76 758-764

Late adult-onset of X-linked myopathy with excessive autophagy

Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA 2014 Jul Muscle and Nerve 50 138-144

Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma

Jones K, Minassian BA 2014 May Pediatric Neurology 50 522-524

Lafora hastaliǧi ve oksipital lob nöbetleri

Çalişkan D, Dündar NO, Karahan N, Bozkurt KK, Turnbull J, Minassian BA 2014 Apr Turkiye Klinikleri Pediatri 23 36-39

Over-expression of either MECP2-e1 or MECP2-e2 in neuronally differentiated cells results in different patterns of gene expression

Orlic-Milacic M, Kaufman L, Mikhailov A, Cheung AY, Mahmood H, Ellis J, Gianakopoulos PJ, Minassian BA, Vincent JB 2014 Apr PloS one 9

PTG protein depletion rescues malin-deficient Lafora disease in mouse

Turnbull J, Epp JR, Goldsmith D, Zhao X, Pencea N, Wang P, Frankland PW, Ackerley CA, Minassian BA 2014 Mar Annals of Neurology 75 442-446

Lafora's odyssey reaches a mysterious port of call

Minassian BA 2014 Mar Brain 137 646-648

The progressive myoclonus epilepsies

Minassian BA 2014 Jan Progress in Brain Research 213 113-122

Transition from glycogen to starch metabolism in archaeplastida

Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG 2014 Jan Trends in Plant Science 19 18-28

Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance

Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler AL, Yu WQ, Ivovic A, Naranian T, Israelian N, Draginov A, Piliguian M, Frankland PW, Wang P, Ackerley CA, Giacca A, Minassian BA 2013 Nov Journal of Biological Chemistry 288 34627-34637

Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons

Liu Y, Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA 2013 Aug Molecular Neurobiology 48 49-61

Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Pederson BA, Turnbull J, Epp JR, Weaver SA, Zhao X, Pencea N, Roach PJ, Frankland PW, Ackerley CA, Minassian BA 2013 Aug Annals of Neurology 74 297-300

Hyperphosphorylation of glucosyl c6 carbons and altered structure of glycogen in the neurodegenerative epilepsy lafora disease

Nitschke F, Wang P, Schmieder P, Girard JM, Awrey DE, Wang T, Israelian J, Zhao X, Turnbull J, Heydenreich M, Kleinpeter E, Steup M, Minassian BA 2013 May Cell Metabolism 17 756-767

Progressive myoclonus epilepsy

Girard JM, Turnbull J, Ramachandran N, Minassian BA 2013 May Handbook of Clinical Neurology 113 1731-1736

Neuronal ceroid lipofuscinoses

Chabrol B, Caillaud C, Minassian B 2013 May Handbook of Clinical Neurology 113 1701-1706

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA 2013 Mar Acta Neuropathologica 125 439-457

Brain dopamine-serotonin vesicular transport disease and its treatment

Rilstone JJ, Alkhater RA, Minassian BA 2013 Feb New England Journal of Medicine 368 543-550

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures

Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF 2012 Dec Clinical Genetics 82 540-545

Early-onset Lafora body disease

Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA 2012 Sep Brain 135 2684-2698

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy

Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA 2012 Sep Pediatric Neurology 47 205-208

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

Rilstone JJ, Coelho FM, Minassian BA, Andrade DM 2012 Aug Epilepsia 53 1421-1428

Increased laforin and laforin binding to glycogen underlie lafora body formation in malin-deficient lafora disease

Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA 2012 Jul Journal of Biological Chemistry 287 25650-25659

Clinical/scientific notes

Girard JM, Stone SS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang P, Zhao XC, Ackerley CA, Frankland PW, Minassian BA 2012 Jul Neurology 79 100-102

Glucose-induced beta cell dysfunction in vivo in rats: Link between oxidative stress and endoplasmic reticulum stress

Tang C, Koulajian K, Schuiki I, Zhang L, Desai T, Ivovic A, Wang P, Robson-Doucette C, Wheeler MB, Minassian B, Volchuk A, Giacca A 2012 May Diabetologia 55 1366-1379

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB 2012 Mar American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 159 B 210-216

Lgi2 truncation causes a remitting focal epilepsy in dogs

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H 2011 Jul PLoS genetics 7

Lafora bodies in skeletal muscle are fiber type specific(e-pub ahead of print)

Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA 2011 May Neurology 76 1674

PTG depletion removes lafora bodies and rescues the fatal epilepsy of lafora disease

Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA 2011 Apr PLoS genetics 7

Lafora disease: A case report, pathologic and genetic study

Harirchian MH, Esmailee Shandiz E, Turnbull J, Minassian BA, Shahsiah R 2011 Apr Indian Journal of Pathology and Microbiology 54 374-375

Gene defects in progressive myoclonus epilepsy

Serratosa JM, Minassian BA, Ganesh S 2010 Dec Epilepsia 51 75

Glycogen hyperphosphorylation underlies Lafora body formation

Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA 2010 Dec Annals of Neurology 68 925-933

Erratum to Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification [Cell, 137, (2009), 235-246]

Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA 2010 Sep Cell 142 984

22-year-old girl with status epilepticus and progressive neurological symptoms

Striano P, Ackerley CA, Cervasio M, Girard JM, Turnbull J, Del Basso-De Caro ML, Striano S, Zara F, Minassian BA 2009 Oct Brain Pathology 19 727-730

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: An effect of allelic variation in gene expression?

Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund AM, Roebrock K, Christensen E, Häberle J 2009 Sep Clinical Genetics 76 263-269

Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog

Webb AA, McMillan C, Cullen CL, Boston SE, Turnbull J, Minassian BA 2009 Sep Canadian Veterinary Journal 50 963-967

Mutation I810N in the α3 isoform of Na+,K +-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Schack VR, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC 2009 Aug Proceedings of the National Academy of Sciences of the United States of America 106 14085-14090

Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus

Andrade DM, Hamani C, Minassian BA 2009 Jul Expert Opinion on Pharmacotherapy 10 1549-1560

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

Ramachandran N, Girard JM, Turnbull J, Minassian BA 2009 May Epilepsia 50 29-36

Novel exon 1 mutations in MECP2 implicate isoform MeCP2-e1 in classical rett syndrome

Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB 2009 May American Journal of Medical Genetics, Part A 149 1019-1023

VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA 2009 Apr Cell 137 235-246

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE 2009 Mar Brain 132 810-819

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, DePaoli-Roach AA, Roach PJ 2008 Dec Journal of Biological Chemistry 283 33816-33825

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3β-dependent mechanisms

Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, Minassian BA, Liu Y, Zheng P 2008 Dec Molecular and cellular biology 28 7236-7244

Fine-mapping the gene for X-linked myopathy with excessive autophagy

Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA 2008 Sep Neurology 71 951-953

Erratam: Fine-mapping the gene for x-linked myopathy with excessive autophagy (Neurology (2008) 70 (2233-2240))

Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, Kissel JT, Minassian BA 2008 Sep Neurology 71 953

Thrombocytopathy and leukocytopathy in X-linked Myopathy with Excessive Autophagy (XMEA)

Ackerley CA, Ramachandran N, Munteanu I, Kalimo H, Minassian BA 2008 Aug Microscopy and Microanalysis 14 1524-1525

Unverricht-Lundborg Progressive Myoclonus Epilepsy in Oman

Santoshkumar B, Turnbull J, Minassian BA 2008 Apr Pediatric Neurology 38 252-255

Will my Rett syndrome patient walk, talk, and use her hands?

Zhang Y, Minassian BA 2008 Apr Neurology 70 1302-1303

Lafora progressive myoclonus epilepsy: Disease course homogeneity in a genetic isolate

Turnbull J, Kumar S, Ren ZP, Muralitharan S, Naranian T, Ackerley CA, Minassian BA 2008 Feb Journal of child neurology 23 240-242

Typical progression of myoclonic epilepsy of the Lafora type: A case report

Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA 2008 Feb Nature Clinical Practice Neurology 4 106-111

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, DePaoli-Roach AA, Roach PJ 2007 Dec Proceedings of the National Academy of Sciences of the United States of America 104 19262-19266

Erratum: Sequence variants within exon 1 of MECP2 occur in females with mental retardation. (American Journal of Medical Genetics; Part B: Neuropsychiatric Genetics (2007) 144B, (355-360))

Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA, Vincent JB 2007 Oct American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 144 969

Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: A report of two cases

O'Shea AM, Wilson GJ, Ling SC, Minassian BA, Turnbull J, Cutz E 2007 Sep Pediatric and Developmental Pathology 10 351-357

Lafora disease, seizures and sugars

Andrade DM, Turnbull J, Minassian BA 2007 Jul Acta Myologica 26 83-86

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE 2007 Jul American Journal of Human Genetics 81 136-146

Genetics of epilepsies

Andrade DM, Minassian BA 2007 Jun Expert review of neurotherapeutics 7 727-734

Sequence variants within exon 1 of MECP2 occur in females with mental retardation

Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivistava AK, Minassian BA, Vincent JB 2007 Apr American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 144 355-360

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Franceschetti S, Zara F, Minassian BA 2007 Mar Neurology 68 996-1001

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E 2007 Feb Journal of medical genetics 44 e56

Erratum: Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: Study of a cohort of Israeli patients (Journal of Medical Genetics (2006) 43, (e56))

Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E 2007 Feb Journal of medical genetics 44 147

Glycogen metabolism in tissues from a mouse model of Lafora disease

Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ 2007 Jan Archives of Biochemistry and Biophysics 457 264-269

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E 2006 Dec Journal of medical genetics 43 e56

Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?

Andrade DM, Scherer SW, Minassian BA 2006 Nov Epilepsy Research 72 75-79

Animal models of lafora disease

Ackerley CA, Minassian BA 2006 Aug Microscopy and Microanalysis 12 12-13

Demystifying vaccination-associated encephalopathy

Sell E, Minassian BA 2006 Jun Lancet Neurology 5 465-466

Clinical and genetic findings in 26 Italian patients with Lafora disease

Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F 2006 Mar Epilepsia 47 640-643

What intractability information is there in the type of generalized seizure?

Mohamed IS, Minassian BA 2006 Advances in neurology 97 141-147

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.

Lohi H, Chan EM, Scherer SW, Minassian BA 2006 Advances in neurology 97 399-415

Starch-like polyglucosan formation in neuronal dendrites in the Lafora form of human epilepsy: A theory of pathogenesis

Lohi HT, Minassian BA 2005 Dec Biologia - Section Cellular and Molecular Biology 60 123-129

Inherited occipital hypoplasia/syringomyelia in the cavalier king charles spaniel: Experiences in setting up a worldwide DNA collection

Rusbridge C, Knowler P, Rouleau GA, Minassian BA, Rothuizen J 2005 Nov Journal of Heredity 96 745-749

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA 2005 Oct Human mutation 26 397

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA 2005 Sep Human molecular genetics 14 2727-2736

Sacred disease secrets revealed: The genetics of human epilepsy

Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA 2005 Sep Human molecular genetics 14 2491-2500

Clinical stringency greatly improves mutation detection in Rett syndrome

Gauthier J, De Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St.-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA 2005 Aug Canadian Journal of Neurological Sciences 32 321-326

Nonepileptic visual hallucinations in Lafora disease

Andrade DM, Del Campo JM, Moro E, Minassian BA, Wennberg RA 2005 Apr Neurology 64 1311-1312

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy

Munteanu I, Ackerley CA, Mnatzakanian GN, Kissel JT, Minassian BA 2005 Mar Neurology 64 927-928

Startle-induced seizures associated with infantile hemiplegia: Implication of the supplementary motor area

Nolan MA, Otsubo H, Iida K, Minassian BA 2005 Mar Epileptic Disorders 7 49-52

Expanded repeat in canine epilepsy

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA 2005 Jan Science 307 81

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Chan EM, Andrade DM, Franceschetti S, Minassian B 2005 Advances in neurology 95 47-57

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus

Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA 2004 Aug Neurology 63 565-567

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA 2004 Jun Human molecular genetics 13 1117-1129

Erratum: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (Native Genetics (2004) 36 (339-341))

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA 2004 May Nature genetics 36 540

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA 2004 Apr Nature genetics 36 339-341

Loss of Function of the Cytoplasmic Isoform of the Protein Laforin (EPM2A) Causes Lafora Progressive Myoclonus Epilepsy

Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA 2004 Human mutation 23 170-176

Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA 2003 Dec Neurology 61 1611-1614

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW 2003 Oct Nature genetics 35 125-127

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22

Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA 2003 Sep Journal of medical genetics 40 671-675

Unusual presentation of Lafora's disease

Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S 2003 Jul Journal of child neurology 18 499-501

Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product

Ianzano L, Zhao XC, Minassian BA, Scherer SW 2003 Jun Genomics 81 579-587

Human chromosome 7: DNA sequence and biology

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC 2003 May Science 300 767-772

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

Teixeira CA, Espinola J, Huo L, Kohlschütter J, Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM 2003 Human mutation 21 502-508

Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease

Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM 2002 Dec Journal of neuropathology and experimental neurology 61 1085-1091

Narrowing in on the causative defect of an intriguing X-Linked myopathy with excessive autophagy

Minassian BA, Aiyar R, Alic S, Banwell B, Villanova M, Fardeau M, Mandell JW, Juel VC, Rafii M, Auranen M, Kalimo H 2002 Aug Neurology 59 596-601

How high can we go with phenytoin?

Kozer E, Parvez S, Minassian BA, Kobayashi J, Verjee Z, Koren G 2002 Therapeutic Drug Monitoring 24 386-389

Electrophysiological findings in X-linked myopathy with excessive autophagy

Jääskeläinen SK, Juel VC, Udd B, Villanova M, Liguori R, Minassian BA, Falck B, Niemi P, Kalimo H 2002 Annals of Neurology 51 648-652

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian BA 2002 Advances in neurology 89 199-210

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW 2001 Annals of Neurology 49 271-275

Lafora's disease: Towards a clinical, pathologic, and molecular synthesis

Minassian BA 2001 Pediatric Neurology 25 21-29

Identification of new and common mutations in the EPM2A gene in Lafora disease

Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW 2000 Jan Neurology 54 488-490

X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA 2000 Annals of Neurology 47 666-669

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW 2000 Neurology 55 341-346

Cyclosporine A neurotoxicity in a patient with idiopathic renal magnesium wasting

Al-Rasheed AK, Blaser SI, Minassian BA, Benson L, Weiss SK 2000 Pediatric Neurology 23 353-356

Parental imprinting and Angelman syndrome.

Lalande M, Minassian BA, DeLorey TM, Olsen RW 1999 Advances in neurology 79 421-429

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV 1999 Annals of Neurology 45 262-265

Magnetoencephalographic localization in pediatric epilepsy surgery: Comparison with invasive intracranial electroencephalography

Minassian BA, Otsubo H, Weiss S, Elliott I, Rutka JT, Snead OC 1999 Annals of Neurology 46 627-633

Mice lacking the β3 subunit of the GABA(A) receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome

DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, Asatourian A, Fanselow MS, Delgado-Escueta A, Ellison GD, Olsen RW 1998 Oct Journal of Neuroscience 18 8505-8514

Angelman syndrome: Correlations between epilepsy phenotypes and genotypes

Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV 1998 Apr Annals of Neurology 43 485-493

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Minassian BA, Lee Jeffrey R, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Carter Snead O, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW 1998 Nature genetics 20 171-174

Lafora progressive myoclonus epilepsy: Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]

Sainz J, Minassian BA, Serratosa JM, Gee MN, Sakamoto LM, Iranmanesh R, Bohlega S, Baumann RJ, Ryan S, Sparkes RS, Delgado-Escueta AV 1997 American Journal of Human Genetics 61 1205-1209