Publications by authors named "Garth A Nicholson"

Claim this Profile
P
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.
Bianca R Grosz, Melina Ellis, Shuchi Trivedi, Carolin Scriba, Marion Stoll, Garth A Nicholson

J Peripher Nerv Syst· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Kyrah M Thumbadoo, Laura R Nementzik, Molly E V Swanson, Birger V Dieriks, Michael Dragunow, Garth A Nicholson

Neurobiol Dis· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Kyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, Molly E V Swanson, Ji Hun Yoo, Garth A Nicholson

Brain· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl, Garth A Nicholson

Nat Commun· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Laura R Nementzik, Kyrah M Thumbadoo, Helen C Murray, David Gordon, Shu Yang, Garth A Nicholson

Brain Pathol· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.
Maxinne Watchon, Katherine J Robinson, Luan Luu, Yousun An, Kristy C Yuan, Garth A Nicholson

FASEB J· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Anthony N Cutrupi, Ramesh K Narayanan, Gonzalo Perez-Siles, Bianca R Grosz, Kaitao Lai, Garth A Nicholson

Brain· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identity-by-descent analysis of CMTX3 links three families through a common founder.
Lyndal Henden, Bianca R Grosz, Melina Ellis, Garth A Nicholson, Marina Kennerson

J Hum Genet· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl, Garth A Nicholson

Nat Commun· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Bianca R Grosz, Igor Stevanovski, Sara Negri, Melina Ellis, Stephanie Barnes, Garth A Nicholson

J Peripher Nerv Syst· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Eppie M Yiu, Paula Bray, Jonathan Baets, Steven K Baker, Nina Barisic, Garth A Nicholson

J Neurol Neurosurg Psychiatry· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Wouter van Rheenen, Rick A A van der Spek, Mark K Bakker, Joke J F A van Vugt, Paul J Hop, Garth A Nicholson

Nat Genet· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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 model.
Ramesh K Narayanan, Megan H Brewer, Gonzalo Perez-Siles, Melina Ellis, Carolyn Ly, Garth A Nicholson

Hum Mol Genet· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Wouter van Rheenen, Rick A A van der Spek, Mark K Bakker, Joke J F A van Vugt, Paul J Hop, Garth A Nicholson

Nat Genet· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.
Fangzhi Frank Jia, Alexander P Drew, Garth Alexander Nicholson, Alastair Corbett, Kishore Raj Kumar

Neuromuscul Disord· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Garth A Nicholson

JAMA Neurol· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo.
Maxinne Watchon, Luan Luu, Katherine J Robinson, Kristy C Yuan, Alana De Luca, Garth A Nicholson

Mol Brain· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Bianca R Grosz, John Svaren, Gonzalo Perez-Siles, Garth A Nicholson, Marina L Kennerson

Neurogenetics· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.
Sandrine Chan Moi Fat, Emily P McCann, Kelly L Williams, Lyndal Henden, Natalie A Twine, Garth A Nicholson

Neurobiol Aging· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kishore R Kumar, Andrea Cortese, Susan E Tomlinson, Stephanie Efthymiou, Melina Ellis, Garth A Nicholson

Brain· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.
Alfredo Iacoangeli, Tian Lin, Ahmad Al Khleifat, Ashley R Jones, Sarah Opie-Martin, Garth A Nicholson

Cell Rep· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations.
Anna Konopka, Donna R Whelan, Md Shafi Jamali, Emma Perri, Hamideh Shahheydari, Garth A Nicholson

Mol Neurodegener· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identity by descent analysis identifies founder events and links familial and sporadic ALS cases.
Lyndal Henden, Natalie A Twine, Piotr Szul, Emily P McCann, Garth A Nicholson

NPJ Genom Med· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.
Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V Bourassa, Hélène Catoire, Garth A Nicholson

Aging (Albany NY)· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis