Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
J Med Genet
; 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38871447
3.
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
4.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
J Peripher Nerv Syst
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874107
5.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750340
6.
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
7.
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
8.
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
BMC Nephrol
; 24(1): 344, 2023 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990184
9.
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
10.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687219
11.
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
12.
Hereditary transthyretin amyloidosis overview.
Neurol Sci
; 43(Suppl 2): 595-604, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188616
13.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
14.
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report.
Neurocase
; 27(6): 452-456, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751098
15.
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
16.
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
17.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
J Med Genet
; 56(8): 499-511, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30910913
18.
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
19.
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis.
Mod Rheumatol
; 28(3): 417-431, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837372
20.
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
J Genet Couns
; 26(3): 442-446, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28247171