M. Kennerson

发表

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy

I. Deveson, G. Nicholson, S. Vucic, 2022, Journal of the peripheral nervous system : JPNS.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

S. Züchner, E. Storey, K. Claeys, 2009, Brain : a journal of neurology.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

John W Griffin, Imke Puls, K. Fischbeck, 2004, American journal of human genetics.

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

F. Baas, J. Mcleod, J. Pollard, 1994, Nature Genetics.

A new autosomal dominant pure cerebellar ataxia

E. Storey, G. Nicholson, S. Forrest, 2001, Neurology.

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

M. de Carvalho, M. Reilly, M. Kiernan, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re‐oxygenation injury

P. A. Lay, B. Lai, P. Witting, 2009, Journal of neurochemistry.

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.

CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation

P. Hogarth, M. Kennerson, F. Kupresanin, 2019, Molecular oncology.

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

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

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

J. M. Matamala, M. Kiernan, N. Simon, 2017, Clinical Neurophysiology.

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.

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

M. Kennerson, Karuppiah Thilakavathy, Nahid Tavana, 2021, Endokrynologia Polska.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

K. Fischbeck, M. Zeviani, L. Biesecker, 2012, American journal of human genetics.

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.

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

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

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.

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 .

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

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

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochański, I. Hausmanowa-Petrusewicz, M. Kennerson, 2005, 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.

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

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

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

K. Flanigan, J. Dowling, B. Ilkovski, 2010, Neuromuscular Disorders.

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

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

G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy

S. Züchner, K. Claeys, J. Martín, 2006, Neuromuscular Disorders.

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.

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

V. Timmerman, A. Jordanova, I. Litvinenko, 2015, Human mutation.

Charcot–Marie–Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations

S. Züchner, M. Kennerson, J. Vance, 2005, Neurology.

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

L. Yeates, C. Semsarian, J. Ingles, 2010, Journal of the American College of Cardiology.

Poster presentations

I. Hickie, J. Douwes, M. Palaniswami, 2007, International Journal of Antimicrobial Agents.

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.

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.

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.

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

Kaitao Lai, M. Kennerson, Karuppiah Thilakavathy, 2022, Italian Journal of Pediatrics.

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.

Genome-Wide Analysis Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A

L. Yeates, C. Semsarian, J. Ingles, 2011 .

P Hypertrophic Cardiomyopathy Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

L. Yeates, C. Semsarian, J. Ingles, 2022 .

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of autism associated gene Zmynd11 prior to onset of motor symptoms

M. Mangelsdorf, Ashokkumar Balasubramaniem, Ramesh K. Narayanan, 2022, bioRxiv.

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.

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.

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.

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome

M. Kennerson, Alexandra Boyling, G. Perez-Siles, 2022, Frontiers in Genetics.

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.

Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS)

A. Ahmad-Annuar, M. Ellis, M. Kennerson, 2021, Neurobiology of Aging.

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

F. García-García, S. Pascual-Pascual, E. Hedlund, 2019, Human molecular genetics.

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

M. Shy, S. Feely, J. Garbern, 2009, Neurology.

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.

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.

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

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

A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma

Jordan F Hastings, David R. Croucher, D. Croucher, 2021, eLife.

A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma

Jordan F Hastings, David R. Croucher, D. Croucher, 2021, eLife.

Resistance to platinum chemotherapy in lung adenocarcinoma is driven by a non-genetic, cell-cycle dependent mechanism

Jordan F Hastings, David R. Croucher, D. Croucher, 2020, bioRxiv.

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.

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.

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

M. Devoto, D. Lazarević, S. Scherer, 2022, European journal of neurology.

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.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

A. Ashe, S. Vucic, B. Grosz, 2022, Frontiers in Genetics.

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.

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.

Predicting the Impact of PHEX, FGF23 and DMP1 Gene Variants Found in Malaysian Malay Patients with Hypophosphataemic Rickets Through In Silico Analysis of Protein Function and mRNA Secondary Structure

M. Kennerson, Karuppiah Thilakavathy, N. N. Razali, 2019, Journal of Biochemistry, Microbiology and Biotechnology.

CMT with pyramidal features

S. Vucic, M. Kennerson, G. Nicholson, 2003, Neurology.

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.

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

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

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

V. Fung, S. Tisch, M. Kurian, 2022, Molecular genetics & genomic medicine.

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.

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

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

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Ira W. Deveson, G. Ravenscroft, N. Laing, 2021, medRxiv.

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

Yi-Chung Lee, N. Matsumoto, Y. Liao, 2021, Neurology.

YB-1 Knockdown Inhibits the Proliferation of Mesothelioma Cells through Multiple Mechanisms

G. Reid, M. Grusch, A. Burgess, 2020, Cancers.

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

W. A. Wan Sulaiman, F. Hoo, M. Kennerson, 2023, Frontiers in Genetics.

X‐linked Charcot‐Marie‐Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Byung-Ok Choi, Y. Hong, Anna H. Siddell, 2016, Journal of the peripheral nervous system : JPNS.

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.

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.

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

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

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.

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.

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

M. Kennerson, Jin He, Jing Zhang, 2022, Annals of neurology.

Modafinil effects during acute continuous positive airway pressure withdrawal: a randomized crossover double-blind placebo-controlled trial.

N. Rogers, N. Marshall, Peter Y. Liu, 2010, American Journal of Respiratory and Critical Care Medicine.

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.

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

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

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

S. Kaler, J. Garbern, M. Kennerson, 2012, Human molecular genetics.

Determinants of serum-induced SIRT1 expression in older men: the CHAMP study.

F. Blyth, R. Cumming, V. Naganathan, 2011, The journals of gerontology. Series A, Biological sciences and medical sciences.

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

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

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

P. Panegyres, Ramesh K. Narayanan, M. Kennerson, 2023, Cerebellum.

SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study

F. Blyth, R. Cumming, V. Naganathan, 2017, The journals of gerontology. Series A, Biological sciences and medical sciences.

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.

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.

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

B. Neumann, A. Burgess, Ramesh K. Narayanan, 2021, Human Molecular Genetics.

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms

M. Mangelsdorf, Ramesh K. Narayanan, S. Vucic, 2023, microPublication biology.

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.

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

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

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

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

Genetic analysis of failed male puberty using whole exome sequencing

David Handelsman, M. Kennerson, M. Akram, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

Disruption of the PAR3/INSC/LGN complex causes microtubule instability and peripheral neuropathy

Yi-Chung Lee, Chih-Chiang Chan, M. Kennerson, 2023, medRxiv.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.