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.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
; 146(3): 806-822, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445400
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.
Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
J Peripher Nerv Syst
; 28(2): 237-251, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748295
7.
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
J Peripher Nerv Syst
; 28(3): 382-389, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166413
8.
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
9.
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
J Peripher Nerv Syst
; 25(3): 303-307, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412171
10.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
11.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392
12.
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
13.
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
14.
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.
Ann Neurol
; 71(5): 642-52, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522479
15.
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 18(2): 177-80, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23781965
16.
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.
Neurology
; 101(7): e717-e727, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380432
17.
BAG3 mutations: another cause of giant axonal neuropathy.
J Peripher Nerv Syst
; 17(2): 210-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734908
18.
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 8(10): 1938-1950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453498
19.
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.
Neurology
; 97(17): e1727-e1736, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34493614
20.
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