Detalhe da pesquisa
1.
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Hum Mol Genet
; 25(19): 4266-4281, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506976
2.
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
J Neurol Neurosurg Psychiatry
; 93(8): 908-910, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086940
3.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Muscle Nerve
; 55(1): 55-68, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184587
4.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812
5.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
BMC Neurol
; 15: 172, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26404900
6.
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.
J Neurol Neurosurg Psychiatry
; 84(2): 183-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138764
7.
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.
Sci Rep
; 13(1): 3187, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823368
8.
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Front Neurol
; 14: 1169689, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37265463
9.
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family.
Neurol Genet
; 8(1): e645, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34926808
10.
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.
Ann Clin Transl Neurol
; 9(11): 1820-1825, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36285345
11.
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Sci Rep
; 12(1): 6181, 2022 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35418194
12.
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.
J Clin Invest
; 118(10): 3316-30, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18769634
13.
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
BMC Med Genet
; 12: 37, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21396098
14.
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Brain
; 138(Pt 8): e372, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25576308
15.
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.
J Med Genet
; 47(3): 190-4, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19861302
16.
Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1).
J Neurosci
; 29(38): 11761-71, 2009 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19776263
17.
Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis.
Amyotroph Lateral Scler
; 11(1-2): 122-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19707910
18.
Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.
Nucleic Acids Res
; 36(18): 5872-81, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18796524
19.
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Acta Myol
; 39(2): 67-82, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32904964
20.
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.
J Neurol Sci
; 276(1-2): 170-4, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19000626