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.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
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.
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
5.
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
6.
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
7.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356886
8.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965175
9.
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
10.
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
11.
Quiz page February 2015: renal colic in an adolescent.
Am J Kidney Dis
; 65(2): A17-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616637
12.
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
Orphanet J Rare Dis
; 13(1): 177, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30286783
13.
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
Cerebellum Ataxias
; 5: 7, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564144
14.
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.
Neurobiol Aging
; 66: 179.e5-179.e16, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29525178
15.
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.
Mol Genet Genomic Med
; 5(5): 473-480, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944231
16.
A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
Parkinsonism Relat Disord
; 102: 54-56, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947939
17.
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.
Neuromuscul Disord
; 27(4): 377-381, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28215760