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.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
3.
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
Mov Disord
; 38(4): 665-675, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799493
4.
Chronic cholesterol administration to the brain supports complete and long-lasting cognitive and motor amelioration in Huntington's disease.
Pharmacol Res
; 194: 106823, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336430
5.
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
6.
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Genet Med
; 24(1): 29-40, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906452
7.
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
8.
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
Cerebellum
; 21(1): 133-144, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106418
9.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Eur J Neurol
; 29(7): 2056-2065, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286755
10.
SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes.
Brain
; 144(10): 3175-3190, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974044
11.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
12.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
13.
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
Am J Med Genet A
; 185(2): 397-400, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247537
14.
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Eur J Neurol
; 28(3): 934-944, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190326
15.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
16.
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Neurol Sci
; 42(11): 4741-4745, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34251556
17.
Effect of diazoxide on Friedreich ataxia models.
Hum Mol Genet
; 27(6): 992-1001, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325032
18.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706531
19.
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 25(4): 429-432, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815244
20.
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.
Neuropediatrics
; 51(3): 173-177, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784971