G. Nicholson

N. Luquin, K. Williams, I. Blair, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

P. Schofield, G. Halliday, W. Brooks, 2008, BMC neurology.

Acetylcholine receptor antibody in the diagnosis of myasthenia gravis

L. Griffiths, J. Mcleod, G. Nicholson, 1983, The Medical journal of Australia.

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Nancy F. Hansen, J. Lupski, J. Mullikin, 2010, American journal of human genetics.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

M. Uesugi, M. Ryan, G. Nicholson, 2020, Scientific Reports.

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

A. Antonellis, S. Feely, G. Nicholson, 2022, bioRxiv.

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro

K. Williams, I. Blair, G. Nicholson, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

AGT and RH blood group polymorphisms affect blood pressure and lipids in Afro-Caribbeans

G. Nicholson, T. Wilson, C. Grim, 2004, Journal of Human Hypertension.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

Variants associated with Gaucher disease in multiple system atrophy

J. Trojanowski, S. Gilman, Y. Kuroiwa, 2015, Annals of clinical and translational neurology.

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.

M. Shoji, K. Hayasaka, G. Nicholson, 1999, The Tohoku journal of experimental medicine.

A study of platelet protein phosphorylation in duchenne muscular dystrophy Further evidence against the generalised membrane defect theory

J. Mcleod, G. Nicholson, J. Sugars, 1984, Journal of the Neurological Sciences.

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Í. Lopes-Cendes, S. Tsuji, A. Brice, 2001, American journal of human genetics.

Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies

G. Nicholson, L. D. Porto, Pon Ketheswaren, 2010, Journal of Clinical Neuroscience.

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

H. Shill, J. Growdon, S. Sherman, 2008, BMC medicine.

Calpain Inhibition Is Protective in Machado–Joseph Disease Zebrafish Due to Induction of Autophagy

Adam J. Svahn, T. Becker, S. Rinkwitz, 2017, The Journal of Neuroscience.

“Dancing feet dyskinesias”: A clue to parkin gene mutations

Mark Latt, V. Fung, C. Sue, 2012, Movement disorders : official journal of the Movement Disorder Society.

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

D. Chuang, M. Ryan, G. Nicholson, 2016, Neurobiology of Disease.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

K. Williams, I. Blair, G. Nicholson, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦

T. Hornemann, A. von Eckardstein, Anke Penno, 2010, The Journal of Biological Chemistry.

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Robert H. Brown, A. Fujiyama, A. Toyoda, 2013, American journal of human genetics.

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1

I. Blair, G. Nicholson, J. Atkin, 2019, Zebrafish.

Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells

I. Blair, G. Nicholson, J. Fifita, 2014, PloS one.

Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

J. Pollard, G. Nicholson, J. Spies, 2005, Brain : a journal of neurology.

Erratum: Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (Neuron (2017) 94(2) (322–336.e5)(S0896627317302386)(10.1016/j.neuron.2017.03.026))

W. Talbot, C. Shaw, S. Topp, 2017 .

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

S. Tsuji, V. Wong, A. Dürr, 2007, Archives of neurology.

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

M. Shy, Jun Li, G. Nicholson, 2007, Archives of neurology.

Carrier testing in families of isolated cases of duchenne muscular dystrophy Creatine kinase activities in female relatives of mothers with normal CK activity

G. Nicholson, J. Walton, R. Lane, 1981, Journal of the Neurological Sciences.

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy

G. Nicholson, J. Walton, M. Nicholson, 1979, Journal of the Neurological Sciences.

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis

Denis C. Bauer, L. Henden, M. Kiernan, 2021, Neurobiology of Aging.

The creatine kinase reference interval An assessment of intra- and inter-individual variation

J. Mcleod, G. Nicholson, M. Meerkin, 1985, Journal of the Neurological Sciences.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

K. Amunts, W. Maier, D. Timmann, 2017, Brain : a journal of neurology.

Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA.

I. Blair, G. Nicholson, J. Dawkins, 1997, Cytogenetics and cell genetics.

Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

B. Neumann, M. Uesugi, Ramesh K. Narayanan, 2022, bioRxiv.

The dominantly inherited motor and sensory neuropathies: Clinical and molecular advances

G. Nicholson, 2006, Muscle & nerve.

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.

H. Hartung, K. Verhoeven, V. Timmerman, 2003, Archives of neurology.

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

S. Brahmbhatt, I. Blair, G. Nicholson, 2001, American journal of human genetics.

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

G. Rouleau, K. Williams, I. Blair, 2012, Neurobiology of Aging.

Intermediate forms of Charcot-Marie-Tooth neuropathy

S. Myers, G. Nicholson, 2006, NeuroMolecular Medicine.

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.

S. Myers, G. Nicholson, 2006, Neuromolecular medicine.

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.

M. Shy, G. Nicholson, J. Garbern, 2009, Advances in experimental medicine and biology.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

G. Nicholson, M. Kennerson, A. Cutrupi, 2018, Molecular genetics & genomic medicine.

Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)

A. Cherryson, G. Nicholson, M. Kennerson, 1994 .

Single test for two hereditary neuropathies, CMT1A and HNPP.

I. Blair, G. Nicholson, M. Kennerson, 1995, Clinical Chemistry.

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

I. Blair, G. Nicholson, M. Kennerson, 1995, Clinical chemistry.

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features

I. Blair, G. Nicholson, Katharine Y. Zhang, 2015, Neurotoxicity Research.

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

M. Molloy, K. Williams, I. Blair, 2017, Human molecular genetics.

Re‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

K. Mathews, A. Antonellis, G. Nicholson, 2013, Muscle & nerve.

REPORTS RE-ANALYSIS OF AN ORIGINAL CMTX 3 FAMILY USING EXOME SEQUENCING IDENTIFIES A KNOWN BSCL 2 MUTATION

K. Mathews, A. Antonellis, G. Nicholson, 2013 .

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

B. Schlotter-Weigel, L. Schöls, T. Pieber, 2007, Journal of the Neurological Sciences.

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

Adam J. Svahn, I. Blair, G. Nicholson, 2018, Biology Open.

CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY: ASSESSMENT OF THE EFFECT OF AGE ON DETECTION-RATE WITH SERUM-CREATINE-KINASE-ACTIVITY

G. Nicholson, J. Walton, D. Gardner‐Medwin, 1979, The Lancet.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Hereditary Sensory Neuropathy Type IA

G. Nicholson, 2015 .

Hereditary sensory neuropathy type 1 in a Portuguese family—electrodiagnostic and autonomic nervous system studies

M. Carvalho, G. Nicholson, R. Geraldes, 2004, Journal of the Neurological Sciences.

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

S. Tisch, S. Efthymiou, H. Houlden, 2020, Brain : a journal of neurology.

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

M. Verheijen, G. Lemke, G. Nicholson, 2003, Neurogenetics.

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

A. Mes-Masson, B. Brais, H. Van Esch, 2011, American journal of human genetics.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

H. Horvitz, Robert H. Brown, R. Orrell, 1996, Neuromuscular Disorders.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

M. Marshall, E. Duncan, D. Rowe, 2015, Neurobiology of Aging.

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

K. Williams, I. Blair, G. Nicholson, 2013, Neurobiology of Aging.

A family with 2 X‐linked disorders: Charcot‐Marie‐Tooth disease and hemophilia A

M. Ryan, G. Nicholson, A. Ahmad-Annuar, 2012, Muscle & nerve.

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

S. Tsuji, V. Wong, G. Stevanin, 2012, Archives of neurology.

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

I. Blair, G. Nicholson, A. Drew, 2011, Current molecular medicine.

X-linked CMT: genes and gene loci in an Australian cohort

G. Nicholson, M. Kennerson, P. Polly, 2010, neurogenetics.

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations

J. Pollard, J. Vallat, M. Ryan, 2008, Journal of neuropathology and experimental neurology.

Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry

M. Ryan, G. Nicholson, J. Burns, 2007, Neuromuscular Disorders.

Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings

S. Love, S. Lhatoo, G. Nicholson, 2006, Clinical Neurology and Neurosurgery.

Dominant congenital non progressive motor neuron disorder

M. Ryan, G. Nicholson, R. Ouvrier, 2006 .

Hypoxia Causes Aggregation of Serine Palmitoyltransferase followed by Non-Apoptotic Death of Human Lymphocytes

I. Dedova, G. Nicholson, V. N. Dedov, 2004, Cell cycle.

Equilibrium Between Cell Division and Apoptosis in Immortal Cells as an Alternative to the G1 Restriction Mechanism in Mammalian Cells

I. Dedova, G. Nicholson, V. N. Dedov, 2004, Cell cycle.

Inhibition of topoisomerase II overrides the G2/M check points of the cell cycle in EBV-lymphocytes

I. Dedova, G. Nicholson, V. N. Dedov, 2003, Apoptosis.

Peripheral neuropathies of infancy.

J. Pollard, G. Nicholson, J. Wilmshurst, 2003, Developmental medicine and child neurology.

A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR.

G. Nicholson, T. Kaiser, M. Kennerson, 2003, Genetic testing.

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

S. Brahmbhatt, H. Hartung, K. Verhoeven, 2002, Neuromuscular Disorders.

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

H. Hakonarson, Cecilia Kim, J. Trojanowski, 2012, Human molecular genetics.

Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I.

L. Griffiths, J. Mcleod, G. Nicholson, 1988, American journal of human genetics.

GDAP1 mutations in CMT4: axonal and demyelinating phenotypes?: The exception "proves the rule".

G. Nicholson, R. Ouvrier, 2002, Neurology.

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

C. Shaw, C. Vance, K. Williams, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

K. Williams, I. Blair, G. Nicholson, 2012, Neurobiology of Aging.

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

M. Molloy, K. Williams, I. Blair, 2017, Human molecular genetics.

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Denis C. Bauer, L. Henden, M. Kiernan, 2020, npj Genomic Medicine.

IBD analysis of Australian amyotrophic lateral sclerosis SOD1-mutation carriers identifies five founder events and links sporadic cases to existing ALS families

Denis C. Bauer, L. Henden, M. Kiernan, 2019, bioRxiv.

Comparison of diagnostic tests in myasthenia gravis.

L. Griffiths, J. Mcleod, G. Nicholson, 1983, Clinical and experimental neurology.

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer’s Disease and Frontotemporal Dementia Disease Modeling

A. Hewitt, A. Pébay, M. Cabral-da-Silva, 2020, Cells.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Denis C. Bauer, K. Williams, I. Blair, 2015, Neurobiology of Aging.

Biomarkers of disease in a case of familial lower motor neuron ALS

A. Pettitt, S. Rose, K. Pannek, 2010, Amyotrophic Lateral Sclerosis.

The B subunit of coagulation factor XIII is linked to renin and the Duffy blood group to alpha-spectrin on human chromosome 1.

B. Morris, L. Griffiths, J. Mcleod, 1989, Human Heredity.

A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative Disease.

G. Nicholson, R. Chung, T. Hall, 2017, Zebrafish.

Carrier detection in X-linked diseases

G. Nicholson, 1979, Trends in Neurosciences.

CARRIER DETECTION IN HÆMOPHILIA

G. Nicholson, 1978, The Lancet.

A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease

R. Martins, P. Schofield, C. Broeckhoven, 1995, Neuroscience Letters.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

Clinical Study The MFN 2 V 705 I Variant Is Not a Disease-CausingMutation : A Segregation Analysis in a CMT 2 Family

G. Nicholson, M. Kennerson, S. Reddel, 2015 .

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

G. Nicholson, M. Kennerson, S. Reddel, 2012, Journal of neurodegenerative diseases.

An evaluation of lymphocyte capping in Duchenne muscular dystrophy

G. Nicholson, J. Sugars, 1982, Journal of Neurological Sciences.

Plasma creatine kinase isoenzymes in the Bar Harbor dystrophic mouse

G. Nicholson, E. Matheson, 1981, Journal of the Neurological Sciences.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR.

G. Nicholson, R. A. Poropat, R. Poropat, 1998, Clinical chemistry.

Axonal excitability in X-linked dominant Charcot Marie Tooth disease

D. Burke, G. Nicholson, M. Kennerson, 2014, Clinical Neurophysiology.

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

V. Timmerman, E. Nelis, G. Nicholson, 2007, Clinical chemistry.

Radioimmunoassay of creatine kinase Studies on the skeletal muscle and cardiac muscle enzyme (MM and MB isoenzymes) in serum and neuromuscular tissues

W. O'Sullivan, G. Nicholson, 1978, Journal of the Neurological Sciences.

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Timothy A. Miller, A. Al-Chalabi, C. Shaw, 2022, Nature Communications.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.

Machado-Joseph disease in east Arnhem Land, Australia

G. Nicholson, A. Cohen, K. Dempsey, 1996, Neurology.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Timothy A. Miller, R. Dobson, A. Al-Chalabi, 2022, bioRxiv.

Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis

A. Chiò, M. Kiernan, G. Nicholson, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Danqing Zhu, Stephan Züchner, M. Pericak-Vance, 2005, Nature Genetics.

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming.

C. Stevens, M. Cabral-da-Silva, Martin Engel, 2019, Stem cell research.

Effect of neural activity on skeletal muscle phosphoproteins

J. Mcleod, G. Nicholson, S. Hawkins, 1990, Muscle & nerve.

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.

R. Williamson, M. Delatycki, N. Nassif, 1998, Journal of medical genetics.

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.

T. Gillis, M. MacDonald, H. Shill, 2006, Archives of neurology.

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

Ashley R. Jones, N. Wray, R. Dobson, 2020, Cell reports.

A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2014 .

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

I. Scheffer, S. Berkovic, G. Nicholson, 1994, Archives of neurology.

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Denis C. Bauer, Timothy J. Peters, S. Clark, 2019, Scientific Reports.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

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

Elizabeth J. Atkinson, Douglas C. Wallace, Sumit Middha, 2011, Nature Genetics.

Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat.

N. Nassif, G. Nicholson, M. Kennerson, 1998, Genomics.

Exome sequencing to identify de novo mutations in sporadic ALS trios

G. Crabtree, O. King, J. Glass, 2013, Nature Neuroscience.

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

S. Züchner, D. Chuang, M. Delatycki, 2013, Human molecular genetics.

Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation

F. Baas, L. Valentijn, G. Nicholson, 1995, Human mutation.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Annelot M. Dekker, N. Wray, A. McRae, 2022, Science Translational Medicine.

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

R. Marioni, P. Visscher, N. Wray, 2021, Genome biology.

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

T. Ferguson, T. Bird, S. Kaler, 2010, American journal of human genetics.

Haplotypes and gene expression implicate the MAPT region for Parkinson disease

H. Shill, J. Growdon, S. Sherman, 2008, Neurology.

Tau haplotypes regulate transcription and are associated with Parkinson's disease

Erdahl T. Teber, P. Schofield, P. Silburn, 2004, Annals of neurology.

Molecular dissection of genetic diseases of brain and muscle

G. Nicholson, 1993, The Medical journal of Australia.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

M. Kiernan, K. Williams, I. Blair, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2008, Science.

Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

M. Z. Cader, H. Sutherland, N. Maksemous, 2019, Cephalalgia Reports.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

M. Uesugi, M. Ryan, G. Nicholson, 2020, Scientific Reports.

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

M. Uesugi, C. Speck-Martins, G. Nicholson, 2020, Disease Models & Mechanisms.

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

R. Anney, E. Storey, G. Nicholson, 2003, Neurobiology of Disease.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

S. Zuchner, M. Menezes, M. Ryan, 2016, PLoS genetics.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

Inherited Neuropathies

M. Kiernan, G. Nicholson, S. Vucic, 2019, Seminars in Neurology.

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

Denis C. Bauer, D. Rowe, K. Williams, 2017, Neurodegenerative Diseases.

The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia

D. Rowe, K. Williams, I. Blair, 2017, Clinical genetics.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features

I. Blair, G. Nicholson, Katharine Y. Zhang, 2015, Neurotoxicity Research.

Pathophysiological insights into ALS with C9ORF72 expansions

M. Kiernan, K. Williams, I. Blair, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

A yeast functional screen predicts new candidate ALS disease genes

J. Trojanowski, R. Kalb, D. Dickson, 2011, Proceedings of the National Academy of Sciences.

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

P. Visscher, N. Wray, A. McRae, 2021, European Journal of Human Genetics.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

G. Guillemin, G. Nicholson, Karen Doggett, 2016, Biology Open.

The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.

N. Nassif, G. Nicholson, M. Kennerson, 1997, Genomics.

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

D. Housman, F. Baas, V. Stanton, 1992, Nature Genetics.

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

S. Robertson, E. Storey, G. Nicholson, 2001, American journal of human genetics.

Association study on glutathione S‐transferase omega 1 and 2 and familial ALS

J. Powell, C. Shaw, P. Andersen, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

N. Tachi, K. Hayasaka, G. Nicholson, 1993, Nature Genetics.

Treatment with sodium butyrate has therapeutic benefits for Machado-Joseph disease through the induction of autophagy

G. Nicholson, Albert S Lee, F. Cheng, 2021 .

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

T. Hornemann, Anke Penno, V. Timmerman, 2009, neurogenetics.

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells.

I. Dedova, A. Merrill, G. Nicholson, 2004, Biochimica et biophysica acta.

A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

J. Pollard, G. Nicholson, A. Ing, 2003, American journal of human genetics.

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

S. Brahmbhatt, G. Nicholson, M. Auer-Grumbach, 2001, Nature Genetics.

The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3

A. Cherryson, I. Blair, G. Nicholson, 1996, Nature Genetics.

BMC Medicine

Christine Klein, Karen Ostergaard, Stuart, 2006 .

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

K. Boycott, M. Tétreault, J. Majewski, 2015, Human molecular genetics.

Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr α‐synuclein mutation

Glenda M. Halliday, G. Halliday, G. Nicholson, 2001 .

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

A. Antonellis, G. Nicholson, M. Kennerson, 2008, neurogenetics.

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

J. Pollard, G. Nicholson, R. Ouvrier, 2000, Journal of neurology, neurosurgery, and psychiatry.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

U. Suter, K. Zerres, S. Rudnik-Schöneborn, 2007, American journal of human genetics.

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

M. Pericak-Vance, J. Vance, W. Hung, 1989, Experimental Neurology.

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

E. Storey, M. Delatycki, J. Schoumans, 2009, Clinical chemistry.

Charcot‐Marie‐Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and Connexin32 mutations (CMTX1)

J. Pollard, G. Nicholson, R. Ouvrier, 1998, Muscle & nerve.

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

A. Antonellis, G. Nicholson, B. Grosz, 2019, Scientific Reports.

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Hanns Lochmüller, Thomas Voit, P K Thomas, 2003, Human mutation.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

P. Tsai, Yi-Chung Lee, S. Züchner, 2017, Brain : a journal of neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.

B. Keats, D. Barker, D. Ross, 1992, American journal of medical genetics.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

L. Biesecker, G. Coppola, M. Meisler, 2011, Brain : a journal of neurology.

Peripheral neuropathies of infancy

J. Pollard, G. Nicholson, J. Wilmshurst, 2003 .

Advances in the genetics of hereditary hypertrophic neuropathy in childhood

G. Nicholson, R. Ouvrier, 1995, Brain and Development.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Mutation Testing in Charcot‐Marie‐Tooth Neuropathy

G. Nicholson, 1999, Annals of the New York Academy of Sciences.

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

Denis C. Bauer, J. Hodges, G. Halliday, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2012, Human mutation.

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

R. Williamson, M. Delatycki, N. Nassif, 1998, Neurogenetics.

Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

J. Svaren, G. Nicholson, B. Grosz, 2021, neurogenetics.

Evidence for an X-linked genetic component in familial typical migraine.

D. Nyholt, L. Griffiths, G. Nicholson, 1998, Human molecular genetics.

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Shankaracharya, J. Hodges, J. Fullerton, 2020, Brain : a journal of neurology.

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Z. Hořejší, I. Blair, G. Nicholson, 2020, Molecular neurodegeneration.

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

T. Roscioli, M. Farrar, G. Nicholson, 2016, Neurology.

BIO016295 359..366

G. Guillemin, G. Nicholson, Karen Doggett, 2016 .

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Denis C. Bauer, Timothy J. Peters, S. Clark, 2019, Scientific Reports.

A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma.

I. Blair, G. Nicholson, J. Dawkins, 1998, Genomics.

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

M. Kiernan, G. Nicholson, S. Vucic, 2008, Brain : a journal of neurology.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

S. Züchner, C. Speck-Martins, G. Nicholson, 2016, Metallomics : integrated biometal science.

Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis.

M. Kiernan, G. Nicholson, S. Vucic, 2015, JAMA neurology.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Isolation and use of chromosome 1 probes for linkage studies on Charcot‐Marie‐Tooth disease

T. Mohandas, L. Griffiths, D. Callen, 1990, Annals of human genetics.

Apolipoprotein E genotyping in Alzheimer's disease in an Australian sample.

W. Brooks, G. Broe, G. Nicholson, 1996, Australian and New Zealand journal of medicine.

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

K. Fischbeck, E. Green, M. Dalakas, 2005, Brain : a journal of neurology.

Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: A reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients

E. Bellone, G. Mancardi, A. Schenone, 1996, Neuroscience Letters.

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2

G. Nicholson, M. Kennerson, A. Cutrupi, 2016, Human Genetics.

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss

S. Lincoln, J. Kwok, T. Bird, 2013, Neurology.

G. Nicholson, G. Nicholson, 1993 .

Identity-by-descent analysis of CMTX3 links three families through a common founder

L. Henden, K. Williams, G. Nicholson, 2022, Journal of Human Genetics.

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

G. Nicholson, A. Ahmad-Annuar, M. Kennerson, 2015, Molecular genetics & genomic medicine.

Proof of genetic heterogeneity in X-linked Charcot–Marie–Tooth disease

G. Nicholson, M. Kennerson, S. Reddel, 2006, Neurology.

Decreased A23187-induced chemiluminescence in Duchenne muscular dystrophy granulocytes

G. Nicholson, J. Sugars, Garth A. Nicholson, 1982, Journal of the Neurological Sciences.

Detection of preclinical motor neurone loss in SOD1 mutation carriers using motor unit number estimation

G. Nicholson, A Aggarwal, G Nicholson, 2002, Journal of neurology, neurosurgery, and psychiatry.

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis.

J. Kril, C. Yiannikas, M. Kiernan, 2015, JAMA neurology.

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies

G. Nicholson, A. Ahmad-Annuar, M. Kennerson, 2014, neurogenetics.

Heterogeneity evidence and linkage studies on Charcot‐Marie‐Tooth disease

L. Griffiths, D. Ross, G. Nicholson, 1989, Neurology.

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

Emma L. Scotter, I. Blair, G. Nicholson, 2023, bioRxiv.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Clinical and genetic study of Friedreich ataxia in an Australian population.

E. Storey, R. Williamson, M. Delatycki, 1999, American journal of medical genetics.

Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia-3

G. Nicholson, Albert Lee, F. Cheng, 2023, bioRxiv.

Variable phenotype of Alzheimer's disease with spastic paraparesis

C. Masters, P. Schofield, J. Kril, 2001, Journal of neurochemistry.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Í. Lopes-Cendes, G. Rouleau, O. Riess, 2019, bioRxiv.

Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo

G. Guillemin, G. Nicholson, R. Chung, 2021, bioRxiv.

Motor cortical dysfunction develops in spinocerebellar ataxia type 3

M. Kiernan, M. Farrar, G. Nicholson, 2016, Clinical Neurophysiology.

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

I. Blair, G. Nicholson, M. Kennerson, 2007, Human Genetics.

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.

Denis C. Bauer, L. Henden, M. Kiernan, 2020, NPJ genomic medicine.

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age

H. Shill, J. Growdon, D. Burn, 2006, Neurology.

Is there acetylcholine receptor in human thymus?

G. Nicholson, S. Appel, 1977, Journal of the Neurological Sciences.

Use ofWhole-Exome Sequencing for Diagnosis of Limb-GirdleMuscular Dystrophy Outcomes and Lessons Learned

D. MacArthur, M. Lek, L. Waddell, 2015 .

Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.

S. Myers, R. Boadle, G. Nicholson, 2014, DNA and cell biology.

Normal complement of motor units in asymptomatic familial (SOD1 mutation) amyotrophic lateral sclerosis carriers

G. Nicholson, A. Aggarwal, 2001, Journal of neurology, neurosurgery, and psychiatry.

Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias

T. Hornemann, C. Sue, C. Yiannikas, 2019, Journal of the peripheral nervous system : JPNS.

Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

S. Myers, G. Nicholson, M. Kennerson, 2004, Neurogenetics.

Hereditary Sensory Neuropathy

S. Myers, G. Nicholson, 2006 .

A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

G. Nicholson, M. Ellis, M. Kennerson, 2018, Brain : a journal of neurology.

BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study

H. Shill, S. Sherman, D. Burn, 2005, Neurology.

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

Kelly L. Williams, Ian P. Blair, Shu Yang, 2012, Neurobiology of Aging.

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study

T. Gillis, J. Mysore, M. MacDonald, 2008, Movement disorders : official journal of the Movement Disorder Society.

Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion

G. Nicholson, Anthony Leslie, D. Zhu, 2002, Movement disorders : official journal of the Movement Disorder Society.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

S. Züchner, M. Menezes, M. Ryan, 2018, Neurology.

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.

M. Mackay, M. Ryan, G. Nicholson, 2017, Seminars in pediatric neurology.

MORC2 mutations cause axonal Charcot–Marie–Tooth disease with pyramidal signs

A. Pestronk, S. Zuchner, A. Connolly, 2016, Annals of neurology.

Screening for Duchenne muscular dystrophy.

A. Roses, C. Roe, G. Nicholson, 1977, Pediatrics.

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

J. Haines, M. Pericak-Vance, H. Horvitz, 1991, The New England journal of medicine.

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

G. Nicholson, A. Ahmad-Annuar, M. Kennerson, 2016, Clinical genetics.

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G. Guillemin, G. Nicholson, Karen Doggett, 2016 .

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

H. Hartung, V. Timmerman, B. Plecko, 2002, Brain : a journal of neurology.

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

R. Marioni, P. Visscher, N. Wray, 2021, Genome Biology.

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

H. Hakonarson, Cecilia Kim, J. Trojanowski, 2012, Human molecular genetics.

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.

Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia

Emma L. Scotter, I. Blair, G. Nicholson, 2023, bioRxiv.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

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

Annelot M. Dekker, Raymond D. Schellevis, Ashley R. Jones, 2016, Nature Genetics.

Skeletal muscle phosphoproteins: Muscle-specific basal and cAMP-dependent phosphoprotein profiles

G. Nicholson, J. McLeod, L. Luey, 1986, Experimental Neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.