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.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839277
4.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Mov Disord
; 39(1): 209-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054570
5.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
6.
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
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.
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
9.
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
10.
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
11.
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?
Neurol Sci
; 43(8): 5095-5098, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585435
12.
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
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 disease Pediatric Scale.
J Peripher Nerv Syst
; 25(2): 138-142, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32394473
15.
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
16.
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
17.
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs.
J Peripher Nerv Syst
; 24(4): 330-339, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707753
18.
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
J Peripher Nerv Syst
; 24(2): 219-223, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843326
19.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 89(8): 870-878, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449460
20.
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.
Muscle Nerve
; 57(1): E18-E23, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28802056