Detalhe da pesquisa
1.
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Neurobiol Dis
; 197: 106536, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763444
2.
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
Cerebellum
; 23(2): 688-701, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997834
3.
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Neurogenetics
; 24(3): 147-160, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131039
4.
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.
Cerebellum
; 2023 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243885
5.
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
6.
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Eur J Neurol
; 28(8): 2784-2788, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851480
7.
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
Int J Mol Sci
; 22(16)2021 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445111
8.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Int J Mol Sci
; 22(16)2021 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445196
9.
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Hum Mutat
; 41(7): 1232-1237, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333447
10.
The "crab sign": an imaging feature of spinocerebellar ataxia type 48.
Neuroradiology
; 62(9): 1095-1103, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285148
11.
Spinocerebellar ataxia type 48: last but not least.
Neurol Sci
; 41(9): 2423-2432, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342324
12.
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
Neurogenetics
; 19(1): 1-8, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209898
13.
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
J Med Genet
; 58(8): 543-546, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135091
14.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
J Neurol
; 270(10): 5057-5063, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37418012
15.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes (Basel)
; 14(2)2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833224
16.
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
Biomolecules
; 12(8)2022 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892334
17.
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
J Neurol
; 269(3): 1476-1484, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292398
18.
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
J Neurol
; 268(9): 3381-3389, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704555
19.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Genes (Basel)
; 12(3)2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652783
20.
Implication of folate deficiency in CYP2U1 loss of function.
J Exp Med
; 218(11)2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34546337