Detalhe da pesquisa
1.
Development of a functional outcome measure for riboflavin transporter deficiency.
J Peripher Nerv Syst
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445790
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.
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
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.
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
J Neurol Neurosurg Psychiatry
; 90(1): 58-67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30018047
12.
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease.
Muscle Nerve
; 59(2): 213-217, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30265406
13.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
14.
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
15.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392
16.
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
17.
Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.
J Peripher Nerv Syst
; 23(1): 29-35, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168276
18.
Functional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review.
J Peripher Nerv Syst
; 23(2): 99-107, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29521025
19.
Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A.
J Peripher Nerv Syst
; 22(1): 34-38, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27917570
20.
Traduction française de l'échelle Charcot-Marie-Tooth Disease Pediatric Scale.
Can J Neurol Sci
; 44(6): 740-743, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814348