Detalhe da pesquisa
1.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum
; 22(6): 1313-1319, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447112
2.
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?
Neurol Sci
; 43(8): 5095-5098, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585435
3.
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Neurol Sci
; 42(7): 2819-2827, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170376
4.
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
J Cell Sci
; 129(8): 1671-84, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945058
5.
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Mol Cell Neurosci
; 83: 6-12, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28666963
6.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Hum Mutat
; 38(8): 970-977, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544275
7.
De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.
J Headache Pain
; 18(1): 63, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28593511
8.
Biomarkers in rare neuromuscular diseases.
Exp Cell Res
; 325(1): 44-9, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389168
9.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat
; 35(7): 841-50, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633898
10.
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
Mol Genet Metab
; 110(1-2): 162-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911890
11.
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.
Eur J Med Genet
; 66(6): 104749, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948289
12.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Orphanet J Rare Dis
; 18(1): 196, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480080
13.
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.
BMC Med Genet
; 13: 20, 2012 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22455600
14.
Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.
J Headache Pain
; 18(1): 68, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702766
15.
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
Am J Med Genet A
; 155A(5): 1096-101, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480479
16.
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation.
Parkinsonism Relat Disord
; 92: 72-75, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34710740
17.
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.
Neuromuscul Disord
; 31(6): 479-488, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773883
18.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Neurol Genet
; 7(1): e536, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376799
19.
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.
BMC Med Genet
; 11: 64, 2010 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20426824
20.
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
BMC Med Genet
; 11: 44, 2010 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20302629