Detalhe da pesquisa
1.
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle.
Muscle Nerve
; 67(5): 401-406, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36861214
2.
Anti-HMGCR myopathy: barriers to prompt recognition.
Pract Neurol
; 23(3): 239-242, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36564213
3.
Body composition and myokines in a cohort of patients with Becker muscular dystrophy.
Muscle Nerve
; 66(1): 63-70, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35474226
4.
Emerging Drugs for the Treatment of Amyotrophic Lateral Sclerosis: A Focus on Recent Phase 2 Trials.
Expert Opin Emerg Drugs
; 25(2): 145-164, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32456491
5.
Association Study of Exon Variants in the NF-κB and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Am J Hum Genet
; 99(5): 1163-1171, 2016 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27745838
6.
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
Muscle Nerve
; 60(1): 72-79, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30972778
7.
Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection.
Neurol Sci
; 42(5): 1679-1682, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33646438
8.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
J Clin Rheumatol
; 26(5): e125-e127, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-30801335
9.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
J Neuromuscul Dis
; 11(2): 285-297, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38363615
10.
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle.
J Pathol
; 228(2): 251-9, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22431140
11.
Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports.
Acta Myol
; 42(1): 31-34, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37091528
12.
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
Inglês
| MEDLINE | ID: mdl-36948289
13.
Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman.
Neurol Sci
; 38(8): 1535-1537, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28444466
14.
Whole-body muscle MRI in McArdle disease.
Neuromuscul Disord
; 32(1): 5-14, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34711478
15.
Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center.
Can Respir J
; 2022: 2321909, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35762008
16.
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.
HGG Adv
; 3(1): 100054, 2022 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35047845
17.
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy.
Neuromuscul Disord
; 32(6): 460-467, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35618576
18.
PET/MRI imaging unmasks leptomeningeal carcinomatosis in unexplained diplopia.
J Neurooncol
; 126(1): 205-207, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26409889
19.
Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.
Diagnostics (Basel)
; 11(4)2021 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-33919863
20.
Circulating Biomarkers in Neuromuscular Disorders: What Is Known, What Is New.
Biomolecules
; 11(8)2021 08 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34439911