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Record, Christopher J
~ 100  results:
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1

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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2

Whole genome sequencing increases the diagnostic rate in Ch..:

Record, Christopher J ; Pipis, Menelaos ; Skorupinska, Mariola...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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3

RTN2 deficiency results in an autosomal recessive distal mo..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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4

The role of PMP22 T118M in Charcot–Marie–Tooth disease rema..:

Record, Christopher J. ; Laura, Matilde ; Rossor, Alexander M..
Journal of Biological Chemistry.  299 (2023)  9 - p. 105180 , 2023
Link: https://doi.org/10.1016/..
 
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5

Genetic analysis and natural history of Charcot-Marie-Tooth..:

Record, Christopher J ; Skorupinska, Mariola ; Laura, Matilde...
Brain.  146 (2023)  10 - p. 4336-4349 , 2023
Link: https://doi.org/10.1093/..
 
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6

SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth ..:

Record, Christopher J. ; Skorupinksa, Mariola ; Zuchner, Stephan..
Annals of Neurology.  94 (2023)  6 - p. 1187-1188 , 2023
Link: https://doi.org/10.1002/..
 
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7

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
Brain.  146 (2023)  12 - p. 4880-4890 , 2023
Link: https://doi.org/10.1093/..
 
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8

The mutational profile in a South African cohort with inher..:

Mahungu, Amokelani C. ; Steyn, Elizabeth ; Floudiotis, Niki...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
Brain.  146 (2023)  12 - p. 5098-5109 , 2023
Link: https://doi.org/10.1093/..
 
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10

Severe distinct dysautonomia in RFC1‐related disease associ..:

Record, Christopher J. ; Alsukhni, Rana Alnasser ; Curro, Riccardo...
Journal of the Peripheral Nervous System.  27 (2022)  4 - p. 311-315 , 2022
Link: https://doi.org/10.1111/..
 
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11

Unusual upper limb features in SORD neuropathy:

Record, Christopher J ; Pipis, Menelaos ; Blake, Julian...
Journal of the Peripheral Nervous System.  27 (2022)  2 - p. 175-177 , 2022
Link: https://doi.org/10.1111/..
 
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12

Genetic pain loss disorders:

Lischka, Annette ; Lassuthova, Petra ; Çakar, Arman...
Nature Reviews Disease Primers.  8 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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13

Nitrous oxide-induced motor-predominant axonal peripheral n..:

Lee, Manon ; Abbas, Ahmed ; Lee, Omay...
Journal of the Neurological Sciences.  424 (2021)  - p. 117390 , 2021
Link: https://doi.org/10.1016/..
 
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14

Introducing The International Centre for Genomic Medicine i..:

Macken, William ; Vandrovcova, Jana ; Wilson, Lindsay...
Journal of the Neurological Sciences.  429 (2021)  - p. 117765 , 2021
Link: https://doi.org/10.1016/..
 
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15

Epidemiological and cohort study finds no association betwe..:

Keddie, Stephen ; Pakpoor, Julia ; Mousele, Christina...
Brain.  144 (2020)  2 - p. 682-693 , 2020
Link: https://doi.org/10.1093/..
 
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