Browse by UCL people
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Number of items: 9.
Article
Cortese, A;
Wilcox, JE;
Polke, JM;
Poh, R;
Skorupinska, M;
Rossor, AM;
Laura, M;
... Reilly, MM; + view all
(2019)
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
10.1212/WNL.0000000000008672.
(In press).
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Horga, A;
Laurà, M;
Jaunmuktane, Z;
Jerath, NU;
Gonzalez, MA;
Polke, JM;
Poh, R;
... Reilly, MM; + view all
(2017)
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Journal of Neurology, Neurosurgery and Psychiatry
, 88
(7)
pp. 575-585.
10.1136/jnnp-2016-315077.
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Pernice, Helena F;
O'Donnell, Luke F;
Rossor, Alexander M;
Laura, Matilde;
Record, Christopher J;
Skorupinska, Mariola;
Blake, Julian;
... Reilly, Mary M; + view all
(0204)
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Journal of the Peripheral Nervous System
, 29
(1)
pp. 111-115.
10.1111/jns.12611.
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Pipis, Menelaos;
Won, Seongsik;
Poh, Roy;
Efthymiou, Stephanie;
Polke, James M;
Skorupinska, Mariola;
Blake, Julian;
... Reilly, Mary M; + view all
(2023)
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
, Article awad203. 10.1093/brain/awad203.
(In press).
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Record, Christopher J;
Pipis, Menelaos;
Poh, Roy;
Polke, James M;
Reilly, Mary M;
(2022)
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2022-330223.
(In press).
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Record, Christopher J;
Skorupinska, Mariola;
Laura, Matilde;
Rossor, Alexander M;
Pareyson, Davide;
Pisciotta, Chiara;
Feely, Shawna ME;
... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all
(2023)
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
, Article awad187. 10.1093/brain/awad187.
(In press).
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Rezende Filho, FM;
Parkinson, MH;
Pedroso, JL;
Poh, R;
Faber, I;
Lourenço, CM;
Júnior, WM;
... Barsottini, OGP; + view all
(2019)
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
Parkinsonism & Related Disorders
, 62
pp. 148-155.
10.1016/j.parkreldis.2018.12.024.
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Tomaselli, PJ;
Rossor, AM;
Horga, A;
Jaunmuktane, Z;
Carr, A;
Saveri, P;
Piscosquito, G;
... Reilly, MM; + view all
(2017)
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology
, 88
(15)
pp. 1445-1453.
10.1212/WNL.0000000000003819.
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Tomaselli, PJ;
Rossor, AM;
Polke, JM;
Poh, R;
Blake, J;
Reilly, MM;
(2016)
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
Journal of the Peripheral Nervous System
, 21
(1)
pp. 52-54.
10.1111/jns.12155.
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