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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.
J Peripher Nerv Syst
; 26(2): 231-234, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987933
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
J Peripher Nerv Syst
; 20(4): 415-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307494
16.
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
17.
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
18.
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
19.
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
20.
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy.
Commun Biol
; 5(1): 717, 2022 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851620