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Polke, James
147  results:
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1

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion ..:

Chen, Zhongbo ; Gustavsson, Emil K. ; Macpherson, Hannah...
Movement Disorders.  39 (2024)  3 - p. 486-497 , 2024
Link: https://doi.org/10.1002/..
 
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2

Digenic FLNA and UCHL1 variants resulting in a complex phen..:

Pernice, Helena F. ; O'Donnell, Luke F. ; Rossor, Alexander M....
Journal of the Peripheral Nervous System.  29 (2024)  1 - p. 111-115 , 2024
Link: https://doi.org/10.1111/..
 
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3

Truncating Variants inRFC1in Cerebellar Ataxia, Neuropathy,..:

Ronco, Riccardo ; Perini, Cecilia ; Currò, Riccardo...
Neurology.  100 (2023)  5 - p. , 2023
Link: https://doi.org/10.1212/..
 
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4

Mutations in alpha‐B‐crystallin cause autosomal dominant ax..:

Cortese, Andrea ; Currò, Riccardo ; Ronco, Riccardo...
European Journal of Neurology.  31 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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5

Whole genome sequencing for the diagnosis of neurological r..:

Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner...
The Lancet Neurology.  21 (2022)  3 - p. 234-245 , 2022
Link: https://doi.org/10.1016/..
 
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6

Genetic testing for mitochondrial disease: the United Kingd..:

Mavraki, Eleni ; Labrum, Robyn ; Sergeant, Kate...
European Journal of Human Genetics.  31 (2022)  2 - p. 148-163 , 2022
Link: https://doi.org/10.1038/..
 
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7

Whole-genome sequencing:

Morris, Huw R ; Houlden, Henry ; Polke, James
Practical Neurology.  21 (2021)  4 - p. 322-327 , 2021
Link: https://doi.org/10.1136/..
 
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8

Plasma phospho‐tau in familial Alzheimer's disease: Biomark..:

O'Connor, Antoinette ; Karikari, Thomas K. ; Poole, Teresa...
Alzheimer's & Dementia.  16 (2020)  S4 - p. , 2020
Link: https://doi.org/10.1002/..
 
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9

Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:

Cortese, Andrea ; Tozza, Stefano ; Yau, Wai Yan...
Brain.  143 (2020)  2 - p. 480-490 , 2020
Link: https://doi.org/10.1093/..
 
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10

The second clinical-pathological study of a FTDP-17 family ..:

Olszewska, Diana Angelika ; McGuigan, Christopher ; Houlden, Henry...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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11

Author Correction: Biallelic expansion of an intronic repea..:

Cortese, Andrea ; Simone, Roberto ; Sullivan, Roisin...
Nature Genetics.  51 (2019)  5 - p. 920-920 , 2019
Link: https://doi.org/10.1038/..
 
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12

Biallelic expansion of an intronic repeat in RFC1 is a comm..:

Cortese, Andrea ; Simone, Roberto ; Sullivan, Roisin...
Nature Genetics.  51 (2019)  4 - p. 649-658 , 2019
Link: https://doi.org/10.1038/..
 
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13

Mutations in noncoding regions ofGJB1are a major cause of X..:

Tomaselli, Pedro J. ; Rossor, Alexander M. ; Horga, Alejandro...
Neurology.  88 (2017)  15 - p. 1445-1453 , 2017
Link: https://doi.org/10.1212/..
 
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14

Mutations in the GCH1 Gene Are Associated with Parkinson Di..:

Mencacci, Niccolò ; Isaias, Ioannis ; Reich, Martin...
Neurology.  82 (2014)  10_supplement - p. , 2014
Link: https://doi.org/10.1212/..
 
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15

Hereditary sensory and autonomic neuropathy type 1 (HSANI) ..:

Murphy, Sinéad M. ; Ernst, Daniela ; Wei, Yu...
Neurology.  80 (2013)  23 - p. 2106-2111 , 2013
Link: https://doi.org/10.1212/..
 
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