Detalhe da pesquisa
1.
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain
; 146(3): 806-822, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445400
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.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Expert Rev Mol Med
; 9(25): 1-16, 2007 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17880751
13.
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Eur J Hum Genet
; 23(6): 766-73, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182139
14.
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Hum Mol Genet
; 12(14): 1713-23, 2003 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12837694