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Garth A. Nicholson

Garth A. Nicholson

D-Index & Metrics

Genetics

D-Index
85
Citations
28617
World Ranking
1304
National Ranking
42

Medicine

D-Index
86
Citations
29497
World Ranking
14056
National Ranking
463

Overview

Garth A. Nicholson is affiliated with the University of Sydney in Australia, contributing to research at the intersection of biochemistry, genetics, molecular biology, and neuroscience. Their work spans multiple subfields, notably neurology, molecular biology, cellular and molecular neuroscience, genetics, and cell biology.

Their research primarily focuses on topics related to amyotrophic lateral sclerosis (ALS) and other neurodegenerative and hereditary neurological disorders. Central themes in their work include:

  • Amyotrophic Lateral Sclerosis Research
  • Genetic Neurodegenerative Diseases
  • Hereditary Neurological Disorders
  • Neurogenetic and Muscular Disorders Research
  • Neurological Diseases and Metabolism
  • Mitochondrial Function and Pathology
  • RNA Research and Splicing

The scientist has published extensively in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Brain
  • Nature Communications
  • Journal of the Peripheral Nervous System
  • npj Genomic Medicine

Among their recent publications are:

  • "Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations," 2020, Molecular Neurodegeneration
  • "Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders," 2021, Genome biology
  • "CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis," 2020, Brain
  • "Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis," 2020, Neuron
  • "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis," 2021, JAMA Neurology

Frequent collaborators include:

  • Ian P. Blair
  • Kelly L. Williams
  • Marina Kennerson
  • Melina Ellis
  • Pamela J. Shaw

Their research contributions reflect a strong emphasis on the genetic and molecular mechanisms underlying neurodegenerative diseases, with particular attention to ALS and related disorders. This work contributes to understanding the biological pathways implicated in these conditions, spanning mitochondrial function, RNA splicing, and hereditary neurological disorder pathways.

Best Publications

  • TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

    Jemeen Sreedharan;Ian P. Blair;Vineeta B. Tripathi;Xun Hu

  • Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

    Caroline Vance;Boris Rogelj;Tibor Hortobágyi;Kurt J. De Vos

  • DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

    Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin

  • Controversies and priorities in amyotrophic lateral sclerosis

    Martin R Turner;Orla Hardiman;Michael Benatar;Benjamin R Brooks

  • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

    T Siddique;D A Figlewicz;D A Figlewicz;M A Pericak-Vance;J L Haines

  • Mutations in SPTLC1 , encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

    Jennifer L. Dawkins;Dennis J. Hulme;Sonal B. Brahmbhatt;Michaela Auer-Grumbach

  • Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

    Steve Vucic;Garth A. Nicholson;Matthew C. Kiernan

  • A yeast functional screen predicts new candidate ALS disease genes

    Julien Couthouis;Michael P. Hart;James Shorter;Mariely DeJesus-Hernandez

  • Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

    Jun Mitsui;Takashi Matsukawa;Hiroyuki Ishiura;Yoko Fukuda;Yoko Fukuda

  • Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

    Christopher J. Klein;Maria Victoria Botuyan;Yanhong Wu;Christopher J. Ward

  • Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

    B N Smith;N Ticozzi;C Fallini;A S Gkazi

  • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

    Stephan Züchner;Stephan Züchner;Maher Noureddine;Marina Kennerson;Kristien Verhoeven

  • Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

    Anke Penno;Anke Penno;Mary M. Reilly;Henry Houlden;Matilde Laura

  • The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

    L. J. Valentijn;P. A. Bolhuis;I. Zorn;J. E. Hoogendijk

  • Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr α-synuclein mutation

    Paul J. Spira;David M. Sharpe;Glenda Halliday;Julie Cavanagh

  • Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

    Julien Couthouis;Michael P. Hart;Michael P. Hart;Renske Erion;Oliver D. King

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

  • Supporting Online Material for Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

    Caroline Vance;Boris Rogelj;Tibor Hortobágyi;Kurt J. De Vos

Frequent Co-Authors

Ian P. Blair
Ian P. Blair Macquarie University
Matthew C. Kiernan
Matthew C. Kiernan Royal Prince Alfred Hospital
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Lyn R. Griffiths
Lyn R. Griffiths Queensland University of Technology
Stephan Züchner
Stephan Züchner University of Miami
Christopher Shaw
Christopher Shaw King's College London
John B.J. Kwok
John B.J. Kwok University of Sydney
Ammar Al-Chalabi
Ammar Al-Chalabi King's College London
Vincent Timmerman
Vincent Timmerman University of Antwerp
Patrick A. Dion
Patrick A. Dion Montreal Neurological Institute and Hospital

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