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.
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.
Int J Mol Sci
; 25(11)2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38892250
3.
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012197
4.
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
Int J Mol Sci
; 22(14)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299126
5.
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.
Int J Mol Sci
; 21(16)2020 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32806635
6.
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
BMC Med Genet
; 20(1): 40, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866851
7.
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh.
Clin Chem Lab Med
; 61(12): e251-e254, 2023 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307396
8.
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.
Curr Genomics
; 19(6): 431-443, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30258275
9.
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.
Neurogenetics
; 17(4): 233-244, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27637465
10.
Splicing: is there an alternative contribution to Parkinson's disease?
Neurogenetics
; 16(4): 245-63, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25980689
11.
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies.
J Neurol Sci
; 457: 122869, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38215527
12.
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Pediatr Neurol
; 132: 45-49, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636282
13.
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.
J Neurogenet
; 23(3): 324-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19657941
14.
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Cerebellum
; 12(4): 589-92, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23338241
15.
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Front Cell Neurosci
; 12: 443, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30519163
16.
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.
Epilepsy Res
; 104(3): 280-4, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23352743
17.
Expanding the global prevalence of spinocerebellar ataxia type 42.
Neurol Genet
; 4(3): e232, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29629410
18.
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Neurology
; 79(24): 2315-20, 2012 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197749