Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
Cell Mol Life Sci
; 78(1): 351-372, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280996
5.
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease.
Neurol Sci
; 43(1): 559-563, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33899151
6.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166
7.
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
8.
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
Neurol Sci
; 41(12): 3719-3727, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518996
9.
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
10.
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
11.
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.
Brain
; 137(Pt 6): 1614-20, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24812204
12.
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
J Peripher Nerv Syst
; 19(4): 292-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25429913
13.
Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
J Neurol
; 270(11): 5561-5568, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37540277
14.
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
J Neurol
; 270(1): 394-401, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114297
15.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
J Peripher Nerv Syst
; 17(3): 351-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22971097
16.
An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1865(12): 158805, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829064
17.
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry.
Neurology
; 95(24): e3180-e3189, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928981
18.
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.
Neuromuscul Disord
; 29(4): 310-316, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926199
19.
Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.
Autophagy
; 14(6): 930-941, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130394
20.
Correction to: Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
J Neurol
; 270(11): 5569-5570, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37733102