Detalhe da pesquisa
1.
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
2.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947133
3.
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
4.
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
5.
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
6.
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
Ann Neurol
; 89(2): 369-379, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222249
7.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
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.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
10.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392
11.
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
12.
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
13.
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
14.
Development of an International SMA Bulbar Assessment for Inter-professional Administration.
J Neuromuscul Dis
; 10(4): 639-652, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212069
15.
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
16.
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients.
Arch Dis Child
; 2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577540
17.
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
18.
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
19.
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
JAMA Neurol
; 73(6): 645-51, 2016 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27043305
20.
Laryngeal electromyography in the management of vocal cord mobility problems in children.
Laryngoscope
; 112(7 Pt 1): 1243-8, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12169907