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.
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481354
3.
Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.
Muscle Nerve
; 69(3): 354-361, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156498
4.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
; 146(10): 4025-4032, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337674
5.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
6.
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
J Neurol Neurosurg Psychiatry
; 2023 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979968
7.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
8.
A prospective study on surgical management of foot deformities in Charcot Marie tooth disease.
J Peripher Nerv Syst
; 26(2): 187-192, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650166
9.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
10.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
J Peripher Nerv Syst
; 25(3): 288-291, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32844461
11.
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.
Muscle Nerve
; 57(2): 255-259, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632967
12.
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
13.
Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders.
Obstet Med
; 16(2): 83-87, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37441662
14.
Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study.
Physiother Res Int
; : e1996, 2023 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807482
15.
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
; 94(1): e51-e61, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827005
16.
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.
Neurology
; 92(15): e1773-e1785, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850441