Detalhe da pesquisa
1.
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
2.
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Neurol Sci
; 41(5): 1239-1243, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31902012
3.
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
4.
Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A.
Muscle Nerve
; 60(6): 744-748, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469427
5.
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
Neurol Sci
; 36(6): 1003-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25547330
6.
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
J Peripher Nerv Syst
; 17(4): 414-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23279344
7.
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Brain Sci
; 11(12)2021 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942918
8.
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs.
Clin Neurophysiol
; 129(11): 2259-2267, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30216910
9.
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
Clin Neurophysiol
; 129(1): 21-32, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136549
10.
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
Clin Neurol Neurosurg
; 144: 67-71, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989944
11.
Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71].
Clin Neurol Neurosurg
; 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265096
12.
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.
J Biol Chem
; 280(3): 2378-87, 2005 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15537650