Detalhe da pesquisa
1.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
2.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 25(1): 35, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183077
3.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220341
4.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865968
5.
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy.
Eur J Appl Physiol
; 121(6): 1617-1629, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33646424
6.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917822
7.
Psychosocial impact of sport activity in neuromuscular disorders.
Neurol Sci
; 41(9): 2561-2567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246354
8.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Int J Mol Sci
; 21(7)2020 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32290091
9.
Value of structured reporting in neuromuscular disorders.
Radiol Med
; 124(7): 628-635, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30852791
10.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
11.
Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.
Brain
; 140(7): 1851-1858, 2017 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575198
12.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
13.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Am J Hum Genet
; 90(4): 628-35, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482803
14.
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
Epilepsia
; 56(5): 692-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847462
15.
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
Muscle Nerve
; 52(1): 13-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363165
16.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain
; 136(Pt 11): 3408-17, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030947
17.
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
Acta Myol
; 33(3): 136-43, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873782
18.
An integrated approach in a case of facioscapulohumeral dystrophy.
BMC Musculoskelet Disord
; 15: 155, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886582
19.
Fatigue in Spinal Muscular Atrophy: a fundamental open issue.
Acta Myol
; 43(1): 1-7, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38586164
20.
Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic.
BMC Psychol
; 12(1): 243, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685111