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.
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
4.
Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.
J Peripher Nerv Syst
; 25(2): 138-142, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32394473
5.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
6.
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Brain
; 141(12): 3319-3330, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476010
7.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392
8.
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
9.
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Brain
; 142(4): e14, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649217
10.
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
11.
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
12.
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
13.
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
14.
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Ann Clin Transl Neurol
; 7(9): 1713-1715, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32762141
15.
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
16.
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM).
Neurology
; 91(15): e1381-e1384, 2018 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30232254
17.
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
Arch Neurol
; 64(7): 974-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17620487
18.
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
JAMA Neurol
; 73(6): 645-51, 2016 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27043305
19.
Diagnosis: cystic fibrosis.
Clin Pediatr (Phila)
; 46(3): 285-9, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17427306
20.
Dysphonia.
Clin Pediatr (Phila)
; 46(3): 283-5, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17416890