Garth A Nicholson - JoVE Visualize

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Human Molecular Genetics|August 13, 2021

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans modelRamesh K Narayanan, Megan H Brewer, Gonzalo Perez-Siles, et al.

Neurobiology of Disease|June 28, 2003

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutantMelanie A Knight, Marina L Kennerson, Richard J Anney, et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 9, 2017

Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of AutophagyMaxinne Watchon, Kristy C Yuan, Nick Mackovski, et al.

Neuromuscular Disorders : NMD|September 5, 2002

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyJennifer L Dawkins, Sonal Brahmbhatt, Michaela Auer-Grumbach, et al.

Clinical Chemistry|May 9, 2009

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, et al.

Neurobiology of Disease|July 9, 2016

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationGonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, et al.

Brain : a Journal of Neurology|November 29, 2005

Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24Penelope J Spring, Cindy Kok, Garth A Nicholson, et al.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 23, 2024

Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3Maxinne Watchon, Katherine J Robinson, Luan Luu, et al.

Neurobiology of Aging|September 10, 2015

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originKelly L Williams, Emily P McCann, Jennifer A Fifita, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|December 8, 2009

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysisIan P Blair, Kelly L Williams, Sadaf T Warraich, et al.

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Showing results (41-50 of 100) with videos related to

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Pageof 10

Human Molecular Genetics|August 13, 2021

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans modelRamesh K Narayanan, Megan H Brewer, Gonzalo Perez-Siles, et al.

Neurobiology of Disease|June 28, 2003

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutantMelanie A Knight, Marina L Kennerson, Richard J Anney, et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 9, 2017

Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of AutophagyMaxinne Watchon, Kristy C Yuan, Nick Mackovski, et al.

Neuromuscular Disorders : NMD|September 5, 2002

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyJennifer L Dawkins, Sonal Brahmbhatt, Michaela Auer-Grumbach, et al.

Clinical Chemistry|May 9, 2009

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, et al.

Neurobiology of Disease|July 9, 2016

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationGonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, et al.

Brain : a Journal of Neurology|November 29, 2005

Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24Penelope J Spring, Cindy Kok, Garth A Nicholson, et al.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 23, 2024

Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3Maxinne Watchon, Katherine J Robinson, Luan Luu, et al.

Neurobiology of Aging|September 10, 2015

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originKelly L Williams, Emily P McCann, Jennifer A Fifita, et al.

Journal of Neurology, Neurosurgery, and Psychiatry|December 8, 2009

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysisIan P Blair, Kelly L Williams, Sadaf T Warraich, et al.

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