Detalhe da pesquisa
1.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
J Peripher Nerv Syst
; 28(4): 620-628, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897416
2.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathol Appl Neurobiol
; 48(7): e12842, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904184
3.
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Ann Hum Genet
; 84(5): 417-422, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32281099
4.
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
5.
Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
J Peripher Nerv Syst
; 25(2): 102-106, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277537
6.
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
7.
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.
Neurodegener Dis
; 18(5-6): 310-314, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30893702
8.
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.
Hum Mutat
; 37(1): 98-109, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486801
9.
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
Hum Mutat
; 37(11): 1202-1208, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492805
10.
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
11.
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149.
Biochem Biophys Res Commun
; 443(1): 246-51, 2014 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299952
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.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatr Neurol
; 154: 4-8, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428336
14.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965175
15.
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Acta Myol
; 42(4): 113-117, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38406380
16.
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.
Amyotroph Lateral Scler
; 13(1): 144-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21929355
17.
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
18.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Life (Basel)
; 12(3)2022 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35330153
19.
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
J Peripher Nerv Syst
; 16(4): 287-94, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22176143
20.
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Mol Genet Genomic Med
; 9(9): e1753, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318601