Suchergebnisse - "Blake, Julian"

PubPharm (8)

1

SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction

enthalten in: Annals of neurology | 2023

von Record, C. | Skorupinksa, M. | Zuchner, S. | +2

CommentOn: Ann Neurol. 2023 Feb;93(2):244-256. - PMID 36088542

2

Pregnancy as trigger of central nervous system dysfunction in type 1 X-linked Charcot-Marie-Tooth disease

enthalten in: Muscle & nerve | 2023

von Purcaru, E. | Gunawardana, N. | Blake, J.

3

Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy

enthalten in: Journal of neurology, neurosurgery, and psychiatry | 2022

von O'Donnell, L. | Cortese, A. | Rossor, A. | +8

4

Unusual upper limb features in SORD neuropathy

enthalten in: Journal of the peripheral nervous system : JPNS | 2022

von Record, C. | Pipis, M. | Blake, J. | +6

CommentOn: J Peripher Nerv Syst. 2022 Jun;27(2):120-126. - PMID 35224818

5

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

enthalten in: Journal of the peripheral nervous system : JPNS | 2016

von Tomaselli, P. | Rossor, A. | Polke, J. | +3

CommentOn: J Peripher Nerv Syst. 2015 Dec;20(4):380-6. - PMID 26306937

6

Reply : The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

enthalten in: Brain : a journal of neurology | 2015

von Rossor, A. | Oates, E. | Salter, H. | +25

CommentOn: Brain. 2015 Feb;138(Pt 2):293-310. - PMID 25497877

7

Anti Ma2-associated myeloradiculopathy : expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

enthalten in: Journal of neurology, neurosurgery, and psychiatry | 2012

von Murphy, S. | Khan, U. | Alifrangis, C. | +11

8

Bortezomib-induced inflammatory neuropathy

enthalten in: Journal of the peripheral nervous system : JPNS | 2010

von Saifee, T. | Elliott, K. | Rabin, N. | +6

ErratumIn: J Peripher Nerv Syst. 2011 Mar;16(1):74

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