Detalhe da pesquisa
1.
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Ann Neurol
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613459
2.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203352
3.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
J Peripher Nerv Syst
; 26(2): 177-183, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960567
4.
The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits.
Int J Audiol
; 58(12): 902-912, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31318300
5.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Brain
; 138(Pt 11): 3180-92, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310628
6.
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
Muscle Nerve
; 52(6): 1110-3, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26182879
7.
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
Muscle Nerve
; 52(5): 905-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26012543
8.
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.
J Peripher Nerv Syst
; 19(3): 192-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25400013
9.
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Ann Clin Transl Neurol
; 11(3): 607-617, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173284
10.
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.
Neurology
; 97(5): e489-e500, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031204
11.
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Ann Clin Transl Neurol
; 7(1): 69-82, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833243
12.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Neurology
; 94(9): e884-e896, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047073
13.
Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.
Neurology
; 91(12): e1125-e1129, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120135
14.
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Ann Clin Transl Neurol
; 4(4): 236-245, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382305
15.
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
Case Rep Genet
; 2015: 496053, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26543653
16.
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
Neurology
; 85(3): 228-34, 2015 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109717
17.
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
Case Rep Genet
; 2015: 239167, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878907