Detalhe da pesquisa
1.
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.
Eur J Neurol
; 31(1): e16060, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37724986
2.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
3.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
4.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Ann Intern Med
; 171(7): 458-463, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476771
5.
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy.
JIMD Rep
; 65(1): 3-9, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186851
6.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
7.
Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry.
Acta Myol
; 41(3): 126-129, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349182
8.
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
Brain Sci
; 12(2)2022 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35203936
9.
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1.
Eur J Paediatr Neurol
; 39: 59-64, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35679764
10.
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.
Children (Basel)
; 9(7)2022 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35884047
11.
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).
Front Neurol
; 9: 880, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30405515
12.
A man with fever and bilateral limb weakness.
Intern Emerg Med
; 15(6): 1051-1055, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144262