Detalhe da pesquisa
1.
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
2.
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
3.
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Clin Genet
; 99(6): 829-835, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33604894
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.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911870
6.
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
7.
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Prenat Diagn
; 38(13): 1096-1102, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303263
8.
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
9.
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.
Genes (Basel)
; 15(4)2024 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674356
10.
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
11.
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Genes (Basel)
; 14(8)2023 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628640
12.
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Genes (Basel)
; 14(8)2023 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628710
13.
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
Eur J Transl Myol
; 33(3)2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522802
14.
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
15.
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
16.
The Future of Pharmacogenomics Requires New Discoveries and Innovative Education.
Genes (Basel)
; 13(9)2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140743
17.
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.
Front Aging Neurosci
; 14: 907122, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754952
18.
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.
J Pers Med
; 12(7)2022 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887531
19.
Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations.
J Pers Med
; 11(3)2021 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33809805
20.
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.
J Pers Med
; 11(6)2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073306