Detalhe da pesquisa
1.
Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient-reported outcome measures.
Eur J Neurol
; : e16282, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504654
2.
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
Eur J Neurol
; 30(7): 1945-1956, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837793
3.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
4.
Neuroimaging Biomarkers and Neurocognitive Outcomes in Pediatric Medulloblastoma Patients: a Systematic Review.
Cerebellum
; 20(3): 462-480, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417160
5.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
6.
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Genet Med
; 21(12): 2774-2780, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31197268
7.
Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.
Pediatr Nephrol
; 33(11): 2085-2093, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987458
8.
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
BMC Neurol
; 16: 126, 2016 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27502586
9.
Tuberous sclerosis complex: the past and the future.
Pediatr Nephrol
; 30(10): 1771-80, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25533384
10.
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND).
J Neuromuscul Dis
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38728201
11.
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice.
J Neuromuscul Dis
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701157
12.
Respiratory morbidity in patients with spinal muscular atrophy-a changing world in the light of disease-modifying therapies.
Front Pediatr
; 12: 1366943, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38550632
13.
Gait classification for growing children with Duchenne muscular dystrophy.
Sci Rep
; 14(1): 10828, 2024 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734731
14.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335499
15.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
16.
Psychopharmaceutical treatment for neurobehavioral problems in Duchenne muscular dystrophy: a descriptive study using real-world data.
Neuromuscul Disord
; 33(7): 619-626, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453172
17.
Illness Perceptions and Illness Identity in Adolescents and Emerging Adults With Neuromuscular Disorders.
Clin Child Psychol Psychiatry
; 28(3): 983-996, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112900
18.
The impact of clinical trial participation on quality of life and psychosocial well-being in children with Duchenne muscular dystrophy and their parents.
Neuromuscul Disord
; 33(11): 877-881, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37926639
19.
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
J Neuromuscul Dis
; 10(3): 315-325, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911945
20.
Comparison of two corticosteroid regimens on brain volumetrics in patients with Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 10(12): 2324-2333, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822297