Publications

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

Intrathecal Gene Therapy for Giant Axonal Neuropathy.

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

AAV-based in vivo gene therapy for neurological disorders.

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

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

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

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

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

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

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

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.

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

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.

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

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

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.

Giant axonal neuropathy: cross sectional analysis of a large natural history cohort.

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

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

Comparative outcome analysis of osseointegrated reconstruction and replantation for digital amputations.

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

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.

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.

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.

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

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy.

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

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

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.

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

Recent endeavors in MECP2 gene transfer for gene therapy of Rett syndrome.

Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.

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.

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

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.

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

Insights into the Pathogenesis and Treatment of Krabbe Disease.

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

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

Rett Syndrome: Crossing the Threshold to Clinical Translation.

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

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

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

Immunological considerations for treating globoid cell leukodystrophy.

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

Timing of Gene Therapy Interventions: The Earlier, the Better.

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

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

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

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

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

Methods for gene transfer to the central nervous system.

Clinical applications involving CNS gene transfer.

Progress in gene therapy for neurological disorders.

Gene therapy and neurodevelopmental disorders.

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.

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

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.

Viral vectors for gene delivery to the central nervous system.

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

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.

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

Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates.

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

Viral vectors and delivery strategies for CNS gene therapy.

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

Transient demyelination increases the efficiency of retrograde AAV transduction.

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.