Publications

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

RNAi-Induced Expression of Paternal UBE3A

A Head-to-Head Comparison of AAV9 Biodistribution in Mice: Routes of Administration and Age Dependence

Mechanisms of Adeno-Associated Virus Serotype 9 Vector Characterization and Quality Control through Solid-State Nanopores

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

Should patients with pre-existing anti-AAV antibodies be excluded from receiving intrathecally delivered AAV vectors?

Plasmonic Nanopore Sensing to Probe the DNA Loading Status of Adeno-Associated Viruses

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN)

Exploration of a DDX3X Gene Supplementation Therapy Including Expanded Characterization and Novel Findings of Sleep Disturbances in Ddx3x Haploinsufficient Mice

Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity

Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis II

Lumbar Intrathecal Injection of Gene Therapy Vectors for Central Nervous System Targeting in Mice and Rats

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity

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

Direct Vagus Nerve Injection Protocol For Rats

AAV9/SLC6A1 gene therapy rescues abnormal EEG patterns and cognitive behavioral deficiencies in Slc6a1–/– mice

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy

RNAi Knockdown of EHMT2 in Maternal Expression of Prader–Willi Syndrome Genes

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

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

Intrathecal Gene Therapy for Giant Axonal Neuropathy

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study

Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders

The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome

AAV-based in vivo gene therapy for neurological disorders

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis

SMRT Sequencing Enables High-Throughput Identification of Novel AAVs from Capsid Shuffling and Directed Evolution

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease

CNS-dominant human FMRP isoform rescues seizures, fear, and sleep abnormalities in Fmr1-KO mice

Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease

Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector

AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease

Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome

Ethical challenges for a new generation of early-phase pediatric gene therapy trials

Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice

Giant axonal neuropathy: Cross-sectional analysis of a large natural history cohort

Investigating immune responses to the scaav9-hexm gene therapy treatment in tay–sachs disease and sandhoff disease mouse models

AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease

Knockout of the cmp–sialic acid transporter slc35a1 in human cell lines increases transduction efficiency of adeno‐associated virus 9: Implications for gene therapy potency assays

Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease

Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation

Current Clinical Applications of In Vivo Gene Therapy with AAVs

Viral-based rodent and nonhuman primate models of multiple system atrophy: Fidelity to the human disease

Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

Krabbe disease successfully treated via monotherapy of intrathecal gene therapy

Comparison of high-dose intracisterna magna and lumbar puncture intrathecal delivery of AAV9 in mice to treat neuropathies

Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

Advancing the pathologic phenotype of giant axonal neuropathy: Early involvement of the ocular lens

Optical coherence tomography features in brothers with aspartylglucosaminuria

Correction: Sustained AAV9-mediated expression of a non-self protein in the CNS of non-human primates after immunomodulation (PLoS ONE (2018) 13:6 (e0198154) DOI: 10.1371/journal.pone.0198154)

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

Sustained AAV9-mediated expression of a non-self protein in the CNS of non-human primates after immunomodulation

Recent progress and considerations for AAV gene therapies targeting the central nervous system

Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy

Improved MECP2 Gene Therapy Extends the Survival of MeCP2-Null Mice without Apparent Toxicity after Intracisternal Delivery

Novel oligodendroglial alpha synuclein viral vector models of multiple system atrophy: studies in rodents and nonhuman primates

Development of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett Syndrome

Functional analysis of the Ser149/Thr149 variants of human aspartylglucosaminidase and optimization of the coding sequence for protein production

Recent endeavors in MECP2 gene transfer for gene therapy of Rett Syndrome

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase

Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: Implications for human disease (Clin Auton Res, (2016), 26, (307-313), 10.1007/s10286-016-0365-7)

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria

Immunological considerations for treating globoid cell leukodystrophy

Characterization of a novel adeno-associated viral vector with preferential oligodendrocyte tropism

Intrathecal administration of AAV/GALC vectors in 10–11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant

Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice

Insights into the Pathogenesis and Treatment of Krabbe Disease

Timing of Gene Therapy Interventions: The Earlier, the Better

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Rett Syndrome: Crossing the Threshold to Clinical Translation

ScAAVIL-1ra dosing trial in a large animal model and validation of long-term expression with repeat administration for osteoarthritis therapy

Viral vectors for CNS disorders

Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin

A brief review of recent Charcot-Marie-Tooth research and priorities

Viral expression cassette elements to enhance transgene target specificity and expression in gene therapy

Methods for gene transfer to the central nervous system

Clinical applications involving CNS gene transfer

Perspectives in using gene therapy for lysosomal storage diseases

Erratum: Progress in gene therapy for neurological disorders (Nature Reviews Neurology (2013) 9 (277-291) DOI: 10.1038/nrneurol.2013.56)

Gene therapy and neurodevelopmental disorders

Progress in gene therapy for neurological disorders

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

In Cellulo Examination of a Beta-Alpha Hybrid Construct of Beta-Hexosaminidase A Subunits, Reported to Interact with the GM2 Activator Protein and Hydrolyze GM2 Ganglioside

Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice

Optimization of scAAVIL-1ra in vitro and in vivo to deliver high levels of therapeutic protein for treatment of osteoarthritis

Recent gene therapy advancements for neurological diseases

Viral vectors for gene delivery to the central nervous system

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

Phase 1 gene therapy for duchenne muscular dystrophy using a translational optimized AAV vector

Production of recombinant adeno-associated viral vectors and use in in vitro and in vivo administration

Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors

Comparison of adeno-associated viral vector serotypes for spinal cord and motor neuron gene delivery

Combination therapy utilizing shRNA knockdown and an optimized resistant transgene for rescue of diseases caused by misfolded proteins

Preclinical differences of intravascular aav9 delivery to neurons and glia: A comparative study of adult mice and nonhuman primates

Dystrophin immunity in Duchenne's muscular dystrophy

Viral vectors and delivery strategies for CNS gene therapy

Transient demyelination increases the efficiency of retrograde AAV transduction

Erratum: Corrigendum to "Directed Evolution of a Novel Adeno-associated Virus (AAV) Vector That Crosses the Seizure-compromised Blood-Brain Barrier (BBB)" (Molecular Therapy (2010) 18 (570-578) 10.1038/mt.2009.292)

Directed evolution of a novel adeno-associated virus (AAV) vector that crosses the seizure-compromised blood-brain barrier (BBB)

Reducing the risk of Adeno-Associated Virus (AAV) vector mobilization with AAV type 5 vectors

Optimizing gene delivery vectors for the treatment of heart disease

Discrete functional elements required for initiation activity of the Chinese hamster dihydrofolate reductase origin beta at ectopic chromosomal sites

An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene

Containment of herbicide resistance through genetic engineering of the chloroplast genome