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Author Details

James M Polke
National Hospital for Neurology and Neurosurgery
2005
75
29
PMIDPaper TitleJournal TitlePublished Year
37772343Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.Eur J Neurol2024
36376020Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry2023
38002249Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.Biomolecules2023
37642407Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.Expert Rev Mol Diagn2023
37450567Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.Brain2023
37284795Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain2023
37337674Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.Brain2023
36513735Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.Eur J Hum Genet2023
36797998Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.Brain2023
36289003Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.Neurology2023
35948396Plasma GFAP in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.J Neurol Neurosurg Psychiatry2023
34518334Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.J Neurol Neurosurg Psychiatry2022
34951131Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.J Cell Mol Med2022
32665603Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.Mol Psychiatry2021
33742325Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.Mol Biol Rep2021
33892504Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.Brain2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34274155A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G&gt;T at the intron 9/exon 10 of the MAPT gene.Neurobiol Aging2021
34299126Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.Int J Mol Sci2021
33972362Whole-genome sequencing.Pract Neurol2021
30279455Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.Mol Psychiatry2020
31827005Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.Neurology2020
32040566Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.Brain2020
33087504Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.Sci Transl Med2020
32943482<i>C9orf72</i>, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.Neurology2020
32412171A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.J Peripher Nerv Syst2020
32326241Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation.Cells2020
30995999Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.J Neurol Neurosurg Psychiatry2019
31673819Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Hum Genet2019
30926972Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet2019
31119193Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.Neurol Genet2019
31028356Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet2019
29113975G-quadruplex-binding small molecules ameliorate <i>C9orf72</i> FTD/ALS pathology <i>in vitro</i> and <i>in vivo</i>.EMBO Mol Med2018
30532692Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.Front Cell Neurosci2018
29520876Severe cognitive impairment in a patient with CMT2A.J Peripher Nerv Syst2018
27816334Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Neuromuscul Disord2017
28283593Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.Neurology2017
28501821Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry2017
28572275Truncating mutations in <i>SPAST</i> patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.J Neurol Neurosurg Psychiatry2017
26209716Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?J Neurol Neurosurg Psychiatry2016
27844030Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL.Ann Clin Transl Neurol2016
27477540MSA-C or SCA 17? A clinicopathological case update.Mov Disord2016
26930221Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.J Peripher Nerv Syst2016
25179228Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.Neurobiol Aging2015
28843426Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].Neurobiol Aging2015
26347457A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.Acta Neuropathol2015
26114802MFN2 deletion of exons 7 and 8: founder mutation in the UK population.J Peripher Nerv Syst2015
25716178The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.Acta Neuropathol2015
25308964Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.Neurobiol Aging2015
24363131C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.Neurology2014
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Collaborators

Institute of Neurology, University College London (UCL)
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Hussman Institute for Human Genomics, University of Miami
Co-authored papers 8
UCL Great Ormond Street Institute of Child Health
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Co-authored papers 5
UK Dementia Research Institute, University College London
Co-authored papers 5
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Co-authored papers 4
Queen Square Institute of Neurology, University College London
Co-authored papers 4
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
Co-authored papers 3
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
UCL Queen Square Institute of Neurology
Co-authored papers 3
National Institute on Aging
Co-authored papers 3
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 2
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School of Clinical Medicine, University of Cambridge
Co-authored papers 2
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
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University of Oxford
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Wellcome Sanger Institute
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Cambridge University Hospitals NHS Foundation Trust
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William Harvey Research Institute, Queen Mary University of London
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Oxford University Hospitals NHS Foundation Trust
Co-authored papers 1
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 1
Guy's Hospital
Co-authored papers 1
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