Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet;
110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37301203
2.
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.
Hum Genomics;
18(1): 50, 2024 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38778374
3.
Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Hum Mol Genet;
31(12): 2010-2022, 2022 06 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35015850
4.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
J Neurol Neurosurg Psychiatry;
95(7): 682-690, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38383154
5.
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Mov Disord;
39(3): 510-518, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38140802
6.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci;
45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37853291
7.
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
8.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Mov Disord;
38(2): 313-320, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36444905
9.
Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.
Neurol Sci;
44(8): 2773-2779, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36869274
10.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Hum Mol Genet;
29(3): 471-482, 2020 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31943004
11.
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
12.
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Ann Neurol;
89(2): 212-225, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33068037
13.
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
14.
Predictors of malnutrition risk in neurodegenerative diseases: The role of swallowing function.
Eur J Neurol;
29(8): 2493-2498, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35384164
15.
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.
Neurol Sci;
43(12): 6831-6838, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36053339
16.
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
17.
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
18.
Deep brain stimulation in Huntington's disease: a literature review.
Neurol Sci;
42(11): 4447-4457, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34471947
19.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Neurol Sci;
42(7): 2637-2644, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33929645
20.
Late-onset Huntington's disease with 40-42 CAG expansion.
Neurol Sci;
41(4): 869-876, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31820322