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1 . Academic Journal
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
저자
by
Esteller, Diana
;
Morrow, Jasper
;
Alonso-Pérez, Jorge
;
Reyes, David
;
Carbayo, Alvaro
, et al.
소스
In
Neuromuscular Disorders
October 2023 33(10):744-753
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7 . Academic Journal
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
저자
by
McDonagh, Ellen M
;
Rueda, Antonio
;
Polychronopoulos, Dimitris
;
Chan, Georgia
;
Angus-Leppan, Heather
, et al.
소스
In
The Lancet Neurology
March 2022 21(3):234-245
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7 . Academic Journal
Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease
저자
by
Singh, Dishan
;
Gray, Julia
;
Laura, Matilde
;
Reilly, Mary M.
.
소스
In
Foot and Ankle Surgery
December 2021 27(8):865-868
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6 . Academic Journal
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
저자
by
Clark, Alex J.
;
Kugathasan, Umaiyal
;
Baskozos, Georgios
;
Priestman, David A.
;
Fugger, Nadine
, et al.
소스
In
Cell Reports Medicine
20 July 2021 2(7)
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7 . Academic Journal
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.
저자
by
Tomaselli, Pedro José
;
Blake, Julian
;
Polke, James M.
;
do Nascimento, Osvaldo José Moreira
;
Reilly, Mary M.
, et al.
소스
European Journal of Neurology
. May2024, Vol. 31 Issue 5, p1-4. 4p.
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7 . Academic Journal
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
저자
by
Rossor, Alexander M.
;
Morrow, Jasper M.
;
Polke, James M.
;
Murphy, Sinead M.
;
Houlden, Henry
, et al.
소스
In
Neuromuscular Disorders
January 2017 27(1):50-56
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7 . Academic Journal
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
저자
by
Pernice, Helena F.
;
O'Donnell, Luke F.
;
Rossor, Alexander M.
;
Laura, Matilde
;
Record, Christopher J.
, et al.
소스
Journal of the Peripheral Nervous System
. Mar2024, Vol. 29 Issue 1, p111-115. 5p.
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7 . Academic Journal
Home‐based multi‐sensory and proximal strengthening program to improve balance in Charcot–Marie–Tooth disease Type 1A: A proof of concept study.
저자
by
Dudziec, Magdalena M.
;
Lee, Laurence E.
;
Massey, Charlotte
;
Tropman, David
;
Skorupinska, Mariola
, et al.
소스
Muscle & Nerve
. Mar2024, Vol. 69 Issue 3, p354-361. 8p.
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7 . Academic Journal
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.
저자
by
Cortese, Andrea
;
Currò, Riccardo
;
Ronco, Riccardo
;
Blake, Julian
;
Rossor, Alex M.
, et al.
소스
European Journal of Neurology
. Jan2024, Vol. 31 Issue 1, p1-6. 6p.
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7 . Academic Journal
The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved
저자
by
Record, Christopher J.
;
Laura, Matilde
;
Rossor, Alexander M.
;
Reilly, Mary M.
.
소스
In
Journal of Biological Chemistry
September 2023 299(9)
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