J. Polke

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Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

N. Wood, H. Houlden, G. Koutsis, 2012, Brain : a journal of neurology.

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

J. van der Grond, J. Polke, M. Bernal-Quirós, 2016, Annals of clinical and translational neurology.

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

N. Staff, L. Petrucelli, H. Paulson, 2020, Science Translational Medicine.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Sachit Shah, J. Polke, M. Reilly, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Extended phenotypic spectrum of KIF5A mutations

D. Hughes, S. Brandner, H. Houlden, 2014, Neurology.

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

H. Houlden, A. Pandraud, J. Polke, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Scalable and robust SARS-CoV-2 testing in an academic center

Robert L. Goldstone, James M. A. Turner, J. Ule, 2020, Nature Biotechnology.

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Michael K. Hutchinson, B. Lawlor, F. Brett, 2021, Neurobiology of Aging.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

H. Houlden, J. Polke, M. Reilly, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

L. Petrucelli, S. Mead, J. Collinge, 2013, Acta Neuropathologica.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism☆

A. Singleton, K. Bhatia, A. Lees, 2015, Neurobiology of Aging.

Whole-genome sequencing

H. Morris, H. Houlden, J. Polke, 2021, Practical Neurology.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

H. Houlden, J. Rankin, M. Sweeney, 2015, Journal of the peripheral nervous system.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

S. Mead, B. Traynor, R. Orrell, 2015, Neurobiology of Aging.

MSA‐C or SCA 17? A clinicopathological case update

A. Lees, J. Holton, H. Houlden, 2016, Movement disorders : official journal of the Movement Disorder Society.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

I. Parees, F. Gago, H. Houlden, 2019, Human Genetics.

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

H. Houlden, J. Polke, M. Reilly, 2017, Neuromuscular Disorders.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

A. Bronstein, S. Züchner, N. Wood, 2020, Brain : a journal of neurology.

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

L. Partridge, A. Chiò, H. Zetterberg, 2017, EMBO molecular medicine.

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

H. Houlden, M. Shy, J. Polke, 2019, Neurology.

Biallelic Expansion of an intronic Repeat in the RFC1 Gene is a common cause 1 of Late-Onset Ataxia 2

S. Züchner, S. Efthymiou, H. Houlden, 2020 .

Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation

J. Rohrer, H. Morris, J. Polke, 2021, Journal of cellular and molecular medicine.

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

J. Schmahmann, Soma Das, S. Facchini, 2022, Neurology.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

H. Houlden, R. Sandford, D. Pareyson, 2011, Neurology.

How to understand it – Whole genome sequencing

H. Morris, J. Polke, H. Houlden, 2021 .

Plasma GFAP in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study

Nick C Fox, K. Blennow, H. Zetterberg, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

2018 Peripheral Nerve Society Annual Meeting 21‐25 July, 2018 Baltimore, Maryland

J. Polke, M. Reilly, F. Taroni, 2018, Journal of the Peripheral Nervous System.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Paola Giunti, Nicholas W. Wood, Patricia Limousin, 2018, Front. Cell. Neurosci..

Parkinson ’ s disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic de ﬁ cit (SWEDD)?

T. Révész, C. Strand, J. Holton, 2016 .

A 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

T. Révész, J. Holton, E. Mudanohwo, 2015, Acta Neuropathologica.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

J. Polke, C. Woodward, C. Alston, 2022, European Journal of Human Genetics.

Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study

Nick C Fox, K. Blennow, C. Frost, 2020, Molecular Psychiatry.

Estimating the effectiveness of routine asymptomatic PCR testing at different frequencies for the detection of SARS-CoV-2 infections

Robert L. Goldstone, Naomi R. Waterlow, Quentin J. Leclerc, 2020, BMC Medicine.

Functional genomics in the stroke-prone spontaneously hypertensive rat : genome wide and candidate gene analysis

J. Polke, 2008 .

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

A. Singleton, J. Hardy, P. Krack, 2014, Brain : a journal of neurology.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell reports.

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

N. Wood, H. Houlden, J. Polke, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers

Robert L. Goldstone, James M. A. Turner, J. Ule, 2020, The Lancet.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Jana Vandrovcova, Henry Houlden, Zane Jaunmuktane, 2019, Nature Genetics.

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Robert W. Taylor, Sachit Shah, H. Houlden, 2021, Molecular Biology Reports.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

S. Züchner, N. Wood, S. Efthymiou, 2019, Nature Genetics.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

H. Houlden, D. Pareyson, J. Polke, 2017, Neurology.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Francesco Muntoni, Jim Stalker, Rahul Phadke, 2013, JAMA neurology.

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Katherine R. Smith, M. Kayikci, D. Smedley, 2022, The Lancet Neurology.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Nick C Fox, M. Rossor, C. Mummery, 2018, Molecular Psychiatry.

Phenotype expression in women with CMT1X

Mary M Reilly, Carly E Siskind, Sinéad M Murphy, 2011, Journal of the peripheral nervous system : JPNS.

Reduction of Gstm1 Expression in the Stroke-Prone Spontaneously Hypertension Rat Contributes to Increased Oxidative Stress

A. Dominiczak, M. Brosnan, M. McBride, 2005, Hypertension.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2015, Acta Neuropathologica.

X inactivation in females with X-linked Charcot–Marie–Tooth disease

H. Houlden, M. Shy, C. Siskind, 2012, Neuromuscular Disorders.

P42 X-inactivation pattern in females with CMTX1

H. Houlden, C. Siskind, J. Polke, 2011, Neuromuscular Disorders.

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

T. Hornemann, Yu Wei, D. Ernst, 2013, Neurology.

Variable phenotypes are associated with PMP22 missense mutations

David L. Bennett, M. Russo, M. Laurá, 2011, Neuromuscular Disorders.

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

J. Polke, M. Reilly, H. Houlden, 2013, Nature Reviews Neurology.

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

P. McColgan, S. Tabrizi, H. Houlden, 2014, Neurology.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Nick C Fox, Colin J. Mahoney, J. Hardy, 2013, American journal of human genetics.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

Severe cognitive impairment in a patient with CMT2A

J. Polke, M. Reilly, A. Rossor, 2018, Journal of the peripheral nervous system : JPNS.

Candidate Genes That Determine Response to Salt in the Stroke-Prone Spontaneously Hypertensive Rat: Congenic Analysis

M. Gaasenbeek, A. Dominiczak, R. Touyz, 2007, Hypertension.

Plasma phospho-tau181 in familial Alzheimer’s disease 1 Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study Running title: Plasma phospho-tau181 in familial Alzheimer’s disease

Mrcpi, J. Polke, A. Heslegrave, 2020 .

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

S. Züchner, Michael A. Gonzalez, S. Brandner, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Elevated 4R-tau in Astrocytes From Asymptomatic Carriers of the MAPT 10+16 Mutation

J. Rohrer, R. Silva, H. Morris, 2020 .

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

S. Züchner, S. Brandner, H. Houlden, 2019, Neurology: Genetics.

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

H. Houlden, G. Koutsis, J. Polke, 2012, Neurobiology of Aging.

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

P. Fossa, E. Cichero, D. Pareyson, 2020, Cells.

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

M. Callaghan, F. Cavalcanti, J. Polke, 2021, International journal of molecular sciences.

An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family

M. Sweeney, J. Polke, S. Heales, 2011, Movement disorders : official journal of the Movement Disorder Society.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell Reports.

A 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

F. Muntoni, J. Polke, M. Reilly, 2020, Journal of the peripheral nervous system : JPNS.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Sonja W. Scholz, A. Chiò, B. Traynor, 2023, Brain : a journal of neurology.

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

J. Polke, M. Reilly, F. Bremner, 2011, Neuromuscular Disorders.

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

T. Hornemann, T. Yousry, J. Thornton, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

A. Lees, T. Révész, C. Strand, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Jun Yu Li, R. Finkel, D. Herrmann, 2023, Brain : a journal of neurology.

Semi‐dominant mutations in MFN2‐related neuropathy and implications for genetic counselling

J. Polke, M. Reilly, A. Rossor, 2016, Journal of the peripheral nervous system : JPNS.

Plasma Aβ ratios in autosomal dominant Alzheimer’s disease: the influence of genotype

Nick C Fox, Jennifer M. Nicholas, K. Blennow, 2021, bioRxiv.

Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype

Nick C Fox, Jennifer M. Nicholas, K. Blennow, 2021, Brain : a journal of neurology.

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

M. Roberts, F. Muntoni, R. Horvath, 2012, Journal of Neurology.

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

K. Bhatia, M. Sweeney, J. Polke, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study

Nick C Fox, K. Blennow, C. Frost, 2020, Molecular Psychiatry.

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

J. Polke, C. Woodward, L. Chitty, 2023, Expert review of molecular diagnostics.

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Nick C Fox, Colin J. Mahoney, J. Hodges, 2013, American journal of human genetics.

Whole-genome sequencing

H. Morris, H. Houlden, J. Polke, 2019, Practical Neurology.

Severe Dejerine‐Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

T. Kleefstra, B. V. van Engelen, H. Houlden, 2012, Journal of the peripheral nervous system : JPNS.

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

H. Houlden, A. Pandraud, J. Polke, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

X inactivation in females with X-linked Charcot–Marie–Tooth disease

H. Houlden, M. Shy, C. Siskind, 2012, Neuromuscular Disorders.