Detalhe da pesquisa
1.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
2.
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.
Hum Mol Genet
; 26(14): 2781-2790, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472288
3.
Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement.
J Clin Med
; 11(18)2022 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36143092
4.
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
Front Genet
; 11: 565868, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193651
5.
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
Neuromuscul Disord
; 29(10): 766-770, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604653
6.
Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features.
Arthritis Rheumatol
; 71(6): 1011-1021, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552836
7.
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
Neuromuscul Disord
; 17(8): 587-96, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17588753
8.
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
Eur J Paediatr Neurol
; 21(6): 873-883, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28760337
9.
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Eur J Hum Genet
; 24(3): 463-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173962
10.
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
Parkinsonism Relat Disord
; 61: 4-6, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579817
11.
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Neuromuscul Disord
; 23(3): 229-38, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23394783
12.
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Acta Neuropathol Commun
; 6(1): 94, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208948
13.
Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective.
Neuromuscul Disord
; 25(8): 672-3, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077615
14.
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.
Mol Cell Neurosci
; 30(3): 408-17, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16169245
15.
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.
Mol Cell Neurosci
; 23(2): 219-31, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12812755