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Gene therapy for neurologic disorders

Neurotherapeutics, 2024-07, Vol.21 (4), p.e00453, Article e00453

2024

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Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

Brain pathology (Zurich, Switzerland), 2010-11, Vol.20 (6), p.1069-1076

2010

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C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

Annals of neurology, 2014-07, Vol.76 (1), p.120-133

2014

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Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Molecular therapy. Nucleic acids, 2024-09, Vol.35 (3), p.102291, Article 102291

2024

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Emerging mechanisms of molecular pathology in ALS

The Journal of clinical investigation, 2015-05, Vol.125 (5), p.1767-1779

2015

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Amyotrophic lateral sclerosis: Problems and prospects

Annals of neurology, 2013-09, Vol.74 (3), p.309-316

2013

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Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

Cell reports (Cambridge), 2014-04, Vol.7 (1), p.1-11

2014

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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

Nature neuroscience, 2010-11, Vol.13 (11), p.1396-1403

2010

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Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model

Annals of neurology, 2016-04, Vol.79 (4), p.687-700

2016

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Dysferlin overexpression in skeletal muscle produces a progressive myopathy

Annals of neurology, 2010-03, Vol.67 (3), p.384-393

2010

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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Nature medicine, 2012-09, Vol.18 (9), p.1418-1422

2012

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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

The Journal of biological chemistry, 2010-04, Vol.285 (15), p.11178-11187

2010

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Axonal Transport Defects in Neurodegenerative Diseases

The Journal of neuroscience, 2009-10, Vol.29 (41), p.12776-12786

2009

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A yeast model of FUS/TLS-dependent cytotoxicity

PLoS biology, 2011-04, Vol.9 (4), p.e1001052-e1001052

2011

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Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5139-5152

2023

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Neonatal Neuronal Circuitry Shows Hyperexcitable Disturbance in a Mouse Model of the Adult-Onset Neurodegenerative Disease Amyotrophic Lateral Sclerosis

The Journal of neuroscience, 2008-10, Vol.28 (43), p.10864-10874

2008

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Nature genetics, 2006-04, Vol.38 (4), p.411-413

2006

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Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons

International journal of molecular sciences, 2022-12, Vol.23 (24), p.16013

2022

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Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS

PLoS biology, 2024-01, Vol.22 (1), p.e3002462, Article e3002462

2024

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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.102-108

2013

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Natural history and biomarkers in hereditary sensory neuropathy type 1

Muscle & nerve, 2015-04, Vol.51 (4), p.489-495

2015

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Genetic ablation of Sarm1 attenuates expression and mislocalization of phosphorylated TDP-43 after mouse repetitive traumatic brain injury

Acta neuropathologica communications, 2023-12, Vol.11 (1), p.206-16, Article 206

2023

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Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

The Journal of biological chemistry, 2003-12, Vol.278 (50), p.50466-50473

2003

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Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery

JCI insight, 2023-05, Vol.8 (9)

2023

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Gene therapy for neurologic disorders

Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Emerging mechanisms of molecular pathology in ALS

Amyotrophic lateral sclerosis: Problems and prospects

Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model

Dysferlin overexpression in skeletal muscle produces a progressive myopathy

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Axonal Transport Defects in Neurodegenerative Diseases

A yeast model of FUS/TLS-dependent cytotoxicity

Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice

Neonatal Neuronal Circuitry Shows Hyperexcitable Disturbance in a Mouse Model of the Adult-Onset Neurodegenerative Disease Amyotrophic Lateral Sclerosis

Debamestrocel multimodal effects on biomarker pathways in amyotrophic lateral sclerosis are linked to clinical outcomes

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons

Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Natural history and biomarkers in hereditary sensory neuropathy type 1

Genetic ablation of Sarm1 attenuates expression and mislocalization of phosphorylated TDP-43 after mouse repetitive traumatic brain injury

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery

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