James M. Polke - Concepedia

Author

James M. Polke

Also Known As

Chiara Pisciotta, Enzo Z. Poirier, J M Polke, J. M. Polke, J. Polke, J.M. Polke, James M Polke, James M. Polke, James Polke, James M. Polke

114

Publications

4.9K

Citations

H-Index

Concepts

All Affiliations

University College London National Hospital for Neurology and Neurosurgery Norfolk and Norwich University Hospital MRC Prion Unit University of Miami

About

James M. Polke is an author at University College London specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	15	1.3K
2	Public Health	4	4	296
3	Natural Sciences	2	2	64
4	Cell Biology	2	2	46
5	Biostatistics	1	1	25

James M. Polke

Publications

Citations

H-Index

Page 1

	Year	Citations
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia Andrea Cortese, Roberto Simone, Roisin Sullivan, Nature Genetics Biallelic ExpansionNeurological DisorderGenetic DisorderIntronic RepeatLate-onset Ataxia	2019	564
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett, Journal of Neurology Neurosurgery & Psychiatry	2012	368
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population Jon Beck, Mark Poulter, Davina J. Hensman Moss, The American Journal of Human Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsMultiple Neurodegenerative SyndromesDegenerative Disease	2013	343
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion Andrea Cortese, Stefano Tozza, Wai Yan Yau, Brain Vestibular Areflexia SyndromeMotor DysfunctionNeurological DisorderCorticobasal DegenerationPathology	2020	213
<i>C9orf72</i> expansions are the most common genetic cause of Huntington disease phenocopies Davina J. Hensman Moss, Mark Poulter, Jon Beck, Neurology	2013	200
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, UCL Discovery (University College London) Neurodegenerative DiseasesMendelian DisorderWhole Genome SequencingRetrospective Diagnostic AccuracyMedicine	2022	140
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia Pietro Fratta, Mark Poulter, Tammaryn Lashley, Acta Neuropathologica	2013	133
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease Robert D. S. Pitceathly, Shamima Rahman, Yehani Wedatilake, Cell Reports	2013	127
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study Antoinette O’Connor, Thomas K. Karikari, Teresa Poole, Molecular Psychiatry Longitudinal Cohort StudyNeurodegenerative DiseasesAlzheimer's DiseaseAgingPlasma Phospho-tau181	2020	120
Extended phenotypic spectrum of <i>KIF5A</i> mutations Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Neurology	2014	110

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