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.
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 95(5): 434-441, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918904
3.
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
4.
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
5.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653949
6.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
7.
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(3): 710-718, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458502
8.
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Eur J Neurol
; 30(8): 2461-2470, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170966
9.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Eur J Neurol
; 29(7): 2056-2065, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286755
10.
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
J Peripher Nerv Syst
; 27(2): 127-130, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416371
11.
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
12.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706531
13.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
14.
Validation of the Italian version of the Charcot-Marie-Tooth Health Index.
J Peripher Nerv Syst
; 25(3): 292-296, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511835
15.
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
16.
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
17.
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry
; 90(10): 1171-1179, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167812
18.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
19.
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
20.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392