Detalhe da pesquisa
1.
Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy.
Muscle Nerve
; 70(1): 71-81, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549445
2.
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Neurogenetics
; 23(1): 19-25, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608571
3.
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
Cerebellum
; 16(1): 82-88, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26897753
4.
Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non-rapid eye movement sleep abnormalities.
Epilepsia
; 56(5): 726-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809446
5.
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
6.
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.
Mol Syndromol
; 15(2): 114-118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585543
7.
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Neuromuscul Disord
; 34: 75-82, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157655
8.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
9.
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Neurol Genet
; 9(6): e200098, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38235043
10.
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Children (Basel)
; 10(4)2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189996
11.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
EClinicalMedicine
; 59: 101997, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197706
12.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Neurology
; 100(11): 522-528, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460469
13.
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
J Neuromuscul Dis
; 10(4): 567-574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066919
14.
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
BMC Med Genet
; 13: 73, 2012 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22894145
15.
Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era.
Acta Myol
; 41(1): 30-36, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35465343
16.
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
PLoS One
; 17(7): e0271681, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35905042
17.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
J Neurol
; 269(9): 4884-4894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35513612
18.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Acta Neuropathol Commun
; 10(1): 54, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428369
19.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
J Neurol
; 269(1): 437-450, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34487232
20.
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Acta Myol
; 41(4): 135-177, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793651