Detalhe da pesquisa
1.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
J Neurol Neurosurg Psychiatry
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839277
2.
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
3.
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
4.
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
5.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
; 144(5): 1542-1550, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969391
6.
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
7.
Validation of a new hand function outcome measure in individuals with Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 25(4): 413-422, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140522
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy.
J Peripher Nerv Syst
; 20(4): 410-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26456943
14.
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.
Neurocase
; 21(4): 529-34, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138285
15.
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
Neuropathology
; 35(3): 254-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388615
16.
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.
J Genet Couns
; 24(4): 553-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843563
17.
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
18.
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
19.
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Ann Neurol
; 71(3): 427-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451207
20.
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.
Front Neurol
; 14: 1298473, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229594