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Journal of Neurology
|
December 15, 2012
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
Grant Guthrie, Gerald Pfeffer, Maura Bailie, et al.
Life Science Alliance
|
March 13, 2023
A protocol for single nucleus RNA-seq from frozen skeletal muscle
Tyler Gb Soule, Carly S Pontifex, Nicole Rosin, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
January 4, 2014
Titinopathy in a Canadian family sharing the British founder haplotype
Gerald Pfeffer, Jeffrey T Joseph, A Micheil Innes, et al.
Frontiers in Genetics
|
February 11, 2022
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
Tatiana Maroilley, Nicola A M Wright, Catherine Diao, et al.
F1000Research
|
January 26, 2024
Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing loss
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 12, 2012
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
Gerald Pfeffer, Emma L Blakely, Charlotte L Alston, et al.
Neurology. Genetics
|
July 12, 2021
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect
Jamie N Leckie, Matthew M Joel, Kristina Martens, et al.
Life Science Alliance
|
April 2, 2025
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, et al.
Brain : a Journal of Neurology
|
September 6, 2024
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis
Rachel J Sharkey, Filomeno Cortese, Bradley G Goodyear, et al.
Neurology
|
February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxia
Gerald Pfeffer, Angela Pyle, Helen Griffin, et al.
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of 10
Search research articles
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Showing results (51-60 of 93) with videos related to
Sort By:
Page
of 10
Journal of Neurology
|
December 15, 2012
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
Grant Guthrie, Gerald Pfeffer, Maura Bailie, et al.
Life Science Alliance
|
March 13, 2023
A protocol for single nucleus RNA-seq from frozen skeletal muscle
Tyler Gb Soule, Carly S Pontifex, Nicole Rosin, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
January 4, 2014
Titinopathy in a Canadian family sharing the British founder haplotype
Gerald Pfeffer, Jeffrey T Joseph, A Micheil Innes, et al.
Frontiers in Genetics
|
February 11, 2022
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia
Tatiana Maroilley, Nicola A M Wright, Catherine Diao, et al.
F1000Research
|
January 26, 2024
Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing loss
Govinda Sharma, Mashiat Zaman, Rasha Sabouny, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 12, 2012
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
Gerald Pfeffer, Emma L Blakely, Charlotte L Alston, et al.
Neurology. Genetics
|
July 12, 2021
Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect
Jamie N Leckie, Matthew M Joel, Kristina Martens, et al.
Life Science Alliance
|
April 2, 2025
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, et al.
Brain : a Journal of Neurology
|
September 6, 2024
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis
Rachel J Sharkey, Filomeno Cortese, Bradley G Goodyear, et al.
Neurology
|
February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxia
Gerald Pfeffer, Angela Pyle, Helen Griffin, et al.
Page
of 10