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.
Cognitive development in children with new-onset Rolandic epilepsy and Rolandic discharges without seizures: Focusing on intelligence, visual perception, working memory and the role of parents' education.
Epilepsy Behav
; 152: 109596, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38350362
3.
[Diagnosis and Management of Late-Onset Pompe Disease]. / Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus Pompe.
Fortschr Neurol Psychiatr
; 92(1-02): 33-40, 2024 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-37494148
4.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
5.
[Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]. / Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne.
Nervenarzt
; 92(4): 359-366, 2021 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-33215271
6.
[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
7.
Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial.
BMC Med Inform Decis Mak
; 16: 31, 2016 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26957320
8.
The L-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids.
Amino Acids
; 47(9): 1853-63, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066683
9.
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Mol Cell Probes
; 29(5): 319-22, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26327357
10.
Long survival in Leigh syndrome: new cases and review of literature.
Neuropediatrics
; 45(6): 346-53, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111564
11.
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
12.
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
13.
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
14.
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
J Neuromuscul Dis
; 9(5): 597-605, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35848034
15.
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Genes (Basel)
; 13(10)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292638
16.
Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders.
Viruses
; 15(1)2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680119
17.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274155
18.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744015
19.
Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.
Mol Syndromol
; 9(2): 100-109, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593477