Detalhe da pesquisa
1.
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans.
J Biol Chem
; 299(5): 104714, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061005
2.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750340
3.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Clin Genet
; 102(2): 155-156, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524423
4.
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
BMC Neurol
; 20(1): 258, 2020 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32600288
5.
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study.
Headache
; 59(2): 253-258, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620050
6.
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
Neurodegener Dis
; 19(2): 96-100, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578030
7.
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Arch Ital Biol
; 155(4): 110-117, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29405028
8.
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
9.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Front Neurol
; 14: 1296924, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145127
10.
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Arch Ital Biol
; 155(4): 118-130, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29405036
11.
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.
Front Aging Neurosci
; 14: 907122, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754952
12.
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Genes (Basel)
; 12(5)2021 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34069712
13.
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Front Genet
; 12: 682050, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34354735
14.
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders.
Front Immunol
; 10: 1064, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31143191
15.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
Front Neurol
; 10: 1331, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32010037
16.
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia.
J Alzheimers Dis
; 65(2): 455-464, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30056425
17.
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.
Front Cell Neurosci
; 11: 102, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28458632
18.
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
J Mol Neurosci
; 59(3): 376-81, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27207492
19.
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.
Parkinsons Dis
; 2015: 546462, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26635992