Detalhe da pesquisa
1.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857854
2.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
3.
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
4.
Mechanographic analysis of the timed 4 stair climb test - methodology and reference data of healthy children and adolescents.
J Musculoskelet Neuronal Interact
; 23(1): 4-25, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856096
5.
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Int J Mol Sci
; 24(17)2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686372
6.
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur J Neurol
; 29(7): 2084-2096, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318785
7.
Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1.
Neuropediatrics
; 53(2): 122-128, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196711
8.
Deep dynamic modeling with just two time points: Can we still allow for individual trajectories?
Biom J
; 64(8): 1426-1445, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384018
9.
Post-dural puncture headache-a single-centre analysis in paediatric patients with and without SMA.
Acta Paediatr
; 110(6): 1895-1901, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33548068
10.
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. / Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.â¯V.
Nervenarzt
; 91(6): 518-529, 2020 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-32394004
11.
Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians.
Neuropediatrics
; 50(6): 359-366, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31408889
12.
Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome.
Neuropediatrics
; 46(1): 5-12, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25343328
13.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
14.
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Lancet Reg Health Eur
; 39: 100862, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361750
15.
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.
Pharmacoeconomics
; 41(3): 275-293, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515815
16.
Evaluating case management for caregivers of children with spinal muscular atrophy type I and II-an exploratory, controlled, mixed-methods trial.
Front Pediatr
; 11: 1212012, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808564
17.
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.
Front Pediatr
; 11: 1259293, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38034835
18.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
J Neuromuscul Dis
; 10(1): 55-65, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36463459
19.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
J Neuromuscul Dis
; 10(1): 29-40, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565133
20.
Transcranial magnetic stimulation with a half-sine wave pulse elicits direction-specific effects in human motor cortex.
BMC Neurosci
; 13: 139, 2012 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23126287