Publications by authors named "Garth Nicholson"

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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

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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

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C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD.
Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Garth Nicholson

Mol Neurobiol· December 2024

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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

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Garth Nicholson

Nat Commun· October 2024

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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

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Garth Nicholson

Nat Commun· July 2024

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A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Bianca R Grosz, Jevin M Parmar, Melina Ellis, Samantha Bryen, Cas Simons, Garth Nicholson

J Peripher Nerv Syst· June 2024

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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

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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

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A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Rebecca Meyer-Schuman, Sheila Marte, Tyler J Smith, Shawna M E Feely, Marina Kennerson, Garth Nicholson

Hum Mol Genet· June 2023

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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

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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

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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

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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

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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

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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

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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Paul J Hop, Ramona A J Zwamborn, Eilis Hannon, Gemma L Shireby, Marta F Nabais, Garth Nicholson

Sci Transl Med· February 2022

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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

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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

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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

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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

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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

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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

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