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
9
60
1881-1894
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 71 247-257MYORG 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 1 6 106-113
Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA
2019 Feb
Epileptic Disord
1
21
30-41
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 Ann Clin Transl Neurol 4 6 807-811
Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JPY, Vilaplana F, Minassian BA, Nitschke F,
2019 04
Cell Rep
5
27
1334-1344.e6
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 P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A,
2019
NPJ Genom Med
4
31
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, Hancárová 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 MEH, Smol T, Shur N, Shelihan I, Šterbová 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 2018 Sep Genet. Med.Lafora Disease: A Review of Molecular Mechanisms and Pathology.
Verhalen B, Arnold S, Minassian BA 2018 Oct NeuropediatricsExtraneurological sparing in long-lived typical Lafora disease.
Goldsmith D, Minassian BA 2018 Jun Epilepsia Open 2 3 295-298Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.
Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA 2018 Jun 3 4 e242Ocular 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 B, 2018 Jul Neurology 3 91 137-139Lafora disease offers a unique window into neuronal glycogen metabolism.
Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa J 2018 Feb J. Biol. Chem.PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Alkhater RA, Scherer SW, Minassian BA, Walker S 2018 Dec 12 5 1617-1621Optical coherence tomography features in brothers with aspartylglucosaminuria.
Goodspeed K, Harder L, Hughes S, Conger D, Taravella J, Gray SJ, Minassian B 2018 Dec Ann Clin Transl Neurol 12 5 1622-1626
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA
2018 Aug
Nat Rev Neurol
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 Genet. 4 14 e1007285
Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW,
2018 03
G3 (Bethesda)
4
8
1115-1118
Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K
2018
Front Pediatr
6
424
Ahonen S, Seath I, Rusbridge C, Holt S, Key G, Wang T, Wang P, Minassian BA
2018
Canine Genet Epidemiol
5
2
Understanding the brain one amino acid at a time - The case of the FHF1 R52H encephalopathy.
Minassian BA 2017 Sep Eur. J. Paediatr. Neurol. 5 21 699-700Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA 2017 Oct Neurol Genet 5 3 e189High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
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, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL 2017 Nov Am. J. Hum. Genet. 5 101 664-685Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J 2017 May Genome Med 1 9 49Abnormal 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 May EMBO Mol Med
Dad R, Malik U, Javed A, Minassian BA, Hassan MJ
2017 May
Gene
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
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 Jun Neurol Genet 3 3 e148Febrile 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 Jun Neurol Genet 3 3 e156
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 Jul
Epilepsia
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 2017 Feb Neurol Genet 1 3 e127Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.
Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C 2017 Dec Neurol Genet 6 3 e199
Solemsky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O
2017 Aug
Biochem. J.
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F 2017 Aug Int J Mol Sci 8 18Update on pharmacological treatment of Progressive Myoclonus Epilepsies.
Ferlazzo E, Trenite DK, de Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, Minassian BA 2017 Aug Curr. Pharm. Des.
Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C
2017
PLoS ONE
8
12
e0182024
Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.
Ackerley CA, Cooper MA, Munoz DG, Minassian BA 2016 Sep Neurology 13 87 1417-9Efficacy and tolerability of perampanel in ten patients with Lafora disease.
Goldsmith D, Minassian BA 2016 Sep Epilepsy Behav 62 132-5
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
2016 Sep
Epileptic Disord
S2
18
38-62
Minassian BA, Striano P, Avanzini G
2016 Sep
Epileptic Disord
S2
18
1-2
Post-modern therapeutic approaches for progressive myoclonus epilepsy.
Minassian BA 2016 Sep Epileptic Disord S2 18 154-158
Nita DA, Mole SE, Minassian BA
2016 Sep
Epileptic Disord
S2
18
73-88
Genton P, Striano P, Minassian BA
2016 Sep
Epileptic Disord
S2
18
3-10
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA 2016 Oct Neuromuscul. Disord.
Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V
2016 Nov
J Small Anim Pract
11
57
650-652
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.
Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA 2016 Feb Neurol Genet 1 2 e43
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 Dec
Neurol Genet
6
2
e115
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 Am. J. Hum. Genet. 6 99 1359-1367De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
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 2016 Dec J. Med. Genet. 12 53 850-858
Froese DS, 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 Oct
Hum. Mol. Genet.
20
24
5667-76
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 Pt 10 138 2859-74
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
J. Child Neurol.
13
30
1749-56
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 5 56 707-16
Minassian BA, Kalimo H
2015 Mar
Acta Neuropathol.
3
129
333-5
X-linked myopathy with excessive autophagy: a failure of self-eating.
Dowling JJ, Moore SA, Kalimo H, Minassian BA 2015 Mar Acta Neuropathol. 3 129 383-90Non-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 Neuromuscul. Disord. 3 25 207-11No 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 Neuromuscul. Disord. 6 25 485-7
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 Neuropathol Commun
3
44
Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G
2015 Feb
J. Biol. Chem.
8
290
4552-9
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 Dec Neurol Genet 4 1 e28Efficient 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 Mol. Pharm. 8 12 2962-71Congenital 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 16 84 1714-6
Akman HO, 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 Neurol
4
72
441-5
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 Ann. Neurol. 5 76 758-64Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma.
Jones K, Minassian BA 2014 May Pediatr. Neurol. 5 50 522-4PTG 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 Ann. Neurol. 3 75 442-6
Minassian BA
2014 Mar
Brain
Pt 3
137
646-8
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 Nerve 1 50 138-44Transition from glycogen to starch metabolism in Archaeplastida.
Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG 2014 Jan Trends Plant Sci. 1 19 18-28Mild 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-López R, Franceschetti S, Aguglia U 2014 Dec Epilepsia 12 55 e129-33
Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA
2014 Dec
Pediatr. Neurol.
6
51
850-3
Orlic-Milacic M, Kaufman L, Mikhailov A, Cheung AY, Mahmood H, Ellis J, Gianakopoulos PJ, Minassian BA, Vincent JB
2014
PLoS ONE
4
9
e91742
Minassian BA
2014
Prog. Brain Res.
213
113-22
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
J. Biol. Chem.
48
288
34627-37
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 Metab.
5
17
756-67
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 Neuropathol. 3 125 439-57Brain dopamine-serotonin vesicular transport disease and its treatment.
Rilstone JJ, Alkhater RA, Minassian BA 2013 Feb N. Engl. J. Med. 6 368 543-50Inhibiting 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 Ann. Neurol. 2 74 297-300
Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y
2013 Aug
Mol. Neurobiol.
1
48
49-61
Girard JM, Turnbull J, Ramachandran N, Minassian BA
2013
Handb Clin Neurol
113
1731-6
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
Pt 9
135
2684-98
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 Pediatr. Neurol. 3 47 205-8
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
Am. J. Med. Genet. B Neuropsychiatr. Genet.
2
159B
210-6
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
J. Biol. Chem.
30
287
25650-9
Phosphorylation prevents polyglucosan transport in Lafora disease.
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 1 79 100-2
Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF
2012 Dec
Clin. Genet.
6
82
540-5
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
Rilstone JJ, Coelho FM, Minassian BA, Andrade DM 2012 Aug Epilepsia 8 53 1421-8
Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA
2011 May
Neurology
19
76
1674-6
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 Genet.
7
7
e1002194
Lafora disease: a case report, pathologic and genetic study.
Harirchian MH, Shandiz EE, Turnbull J, Minassian BA, Shahsiah R 2011 Apr-Jun Indian J Pathol Microbiol 2 54 374-5PTG 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 Genet. 4 7 e1002037Glycogen 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 Ann. Neurol. 6 68 925-33Lafora 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 Can. Vet. J. 9 50 963-722-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 Pathol. 4 19 727-30The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
Ramachandran N, Girard JM, Turnbull J, Minassian BA 2009 May Epilepsia 50 Suppl 5 29-36Mutations 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 Pt 3 132 810-9Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus.
Andrade DM, Hamani C, Minassian BA 2009 Jul Expert Opin Pharmacother 10 10 1549-60
Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC
2009 Aug
Proc. Natl. Acad. Sci. U.S.A.
33
106
14085-90
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 12 71 951-3Lafora 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 J. Child Neurol. 2 23 240-2Typical 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 Nat Clin Pract Neurol 2 4 106-11Abnormal 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 J. Biol. Chem. 49 283 33816-25
Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, Minassian BA, Liu Y, Zheng P
2008 Dec
Mol. Cell. Biol.
23
28
7236-44
Will my Rett syndrome patient walk, talk, and use her hands?
Zhang Y, Minassian BA 2008 Apr Neurology 16 70 1302-3
Santoshkumar B, Turnbull J, Minassian BA
2008 Apr
Pediatr. Neurol.
4
38
252-5
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-Oct Pediatr. Dev. Pathol. 5 10 351-7Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA 2007 Mar Neurology 13 68 996-1001
Andrade DM, Minassian BA
2007 Jun
Expert Rev Neurother
6
7
727-34
Andrade DM, Turnbull J, Minassian BA
2007 Jul
Acta Myol
1
26
83-6
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 Am. J. Hum. Genet. 1 81 136-46Glycogen 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 Arch. Biochem. Biophys. 2 457 264-9
Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E
2007 Feb
J. Med. Genet.
2
44
e56
Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ
2007 Dec
Proc. Natl. Acad. Sci. U.S.A.
49
104
19262-6
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, Srivastava AK, Srivistava AK, Minassian BA, Vincent JB 2007 Apr Am. J. Med. Genet. B Neuropsychiatr. Genet. 3 144B 355-60
Andrade DM, Scherer SW, Minassian BA
2006 Nov
Epilepsy Res.
1
72
75-9
Sell E, Minassian BA
2006 Jun
Lancet Neurol
6
5
465-6
Lohi H, Chan EM, Scherer SW, Minassian BA
2006
Adv Neurol
97
399-415
What intractability information is there in the type of generalized seizure?
Mohamed IS, Minassian BA 2006 Adv Neurol 97 141-7Novel 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 Hum. Mol. Genet. 18 14 2727-36Sacred 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 Oct Hum. Mol. Genet. 14 Spec No. 2 2491-2500Lafora 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 Hum. Mutat. 4 26 397Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.
Munteanu I, Ackerley CA, Mnatzakanian GN, Kissel JT, Minassian BA 2005 Mar Neurology 5 64 927-8
Nolan MA, Otsubo H, Iida K, Minassian BA
2005 Mar
Epileptic Disord
1
7
49-52
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
5706
307
81
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 Can J Neurol Sci 3 32 321-6
Andrade DM, del Campo JM, Moro E, Minassian BA, Wennberg RA
2005 Apr
Neurology
7
64
1311-2
Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA
2004 Jun
Hum. Mol. Genet.
11
13
1117-29
Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA
2004 Feb
Hum. Mutat.
2
23
170-6
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 3 63 565-7
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
Nat. Genet.
4
36
339-41
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 J. Med. Genet. 9 40 671-5
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
Nat. Genet.
2
35
125-7
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
5620
300
767-72
Ianzano L, Zhao XC, Minassian BA, Scherer SW
2003 Jun
Genomics
6
81
579-87
Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S
2003 Jul
J. Child Neurol.
7
18
499-501
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 11 61 1611-4Electrophysiological 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 May Ann. Neurol. 5 51 648-52
Kozer E, Parvez S, Minassian BA, Kobayashi J, Verjee Z, Koren G
2002 Jun
Ther Drug Monit
3
24
386-9
Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM
2002 Dec
J. Neuropathol. Exp. Neurol.
12
61
1085-91
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 4 59 596-601Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
Minassian BA 2002 Adv Neurol 89 199-210Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
Minassian BA 2001 Jul Pediatr. Neurol. 1 25 21-9Laforin 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 Feb Ann. Neurol. 2 49 271-5Cyclosporine A neurotoxicity in a patient with idiopathic renal magnesium wasting.
Al-Rasheed AK, Blaser SI, Minassian BA, Benson L, Weiss SK 2000 Oct Pediatr. Neurol. 4 23 353-6X-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 May Ann. Neurol. 5 47 666-9Identification of new and common mutations in the EPM2A gene in Lafora disease.
Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW 2000 Jan Neurology 2 54 488-90Mutation 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 Aug Neurology 3 55 341-6
Minassian BA, Otsubo H, Weiss S, Elliott I, Rutka JT, Snead OC
1999 Oct
Ann. Neurol.
4
46
627-33
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 Feb Ann. Neurol. 2 45 262-5
Lalande M, Minassian BA, DeLorey TM, Olsen RW
1999
Adv Neurol
79
421-9
DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, Asatourian A, Fanselow MS, Delgado-Escueta A, Ellison GD, Olsen RW
1998 Oct
J. Neurosci.
20
18
8505-14
Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW
1998 Oct
Nat. Genet.
2
20
171-4
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 Ann. Neurol. 4 43 485-93
Sainz J, Minassian BA, Serratosa JM, Gee MN, Sakamoto LM, Iranmanesh R, Bohlega S, Baumann RJ, Ryan S, Sparkes RS, Delgado-Escueta AV
1997 Nov
Am. J. Hum. Genet.
5
61
1205-9
Minassian BA, Sainz J, Delgado-Escueta AV
1995-1996
Clin. Neurosci.
4
3
223-35