Detalhe da pesquisa
1.
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Ann Neurol
; 93(5): 906-910, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891823
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.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581130
4.
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
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.
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
J Neurol Neurosurg Psychiatry
; 2023 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979968
7.
Recovery of foot drop in chronic inflammatory demyelinating polyneuropathy (CIDP).
Muscle Nerve
; 64(1): 59-63, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876440
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.
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
10.
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
11.
Prediabetes, diabetes, metabolic syndrome, and small fiber neuropathy.
Muscle Nerve
; 61(4): 475-479, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012301
12.
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
13.
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
14.
The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.
Ann Neurol
; 84(2): 225-233, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014533
15.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026080
16.
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
17.
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
Hum Mutat
; 39(5): 635-642, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29473246
18.
Natural history of Charcot-Marie-Tooth disease during childhood.
Ann Neurol
; 82(3): 353-359, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796392
19.
Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.
Muscle Nerve
; 57(3): 388-394, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28692128
20.
Somatotopic heat pain thresholds and intraepidermal nerve fibers in health.
Muscle Nerve
; 58(4): 509-516, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543981