Detalhe da pesquisa
1.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
Validity and Reliability of the German Version of the CP QOL-Child and CP QOL-Teen Questionnaire.
Neuropediatrics
; 53(2): 102-108, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34879423
4.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
5.
[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
6.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
7.
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Eur J Paediatr Neurol
; 51: 17-23, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772209
8.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet
; 31(8): 905-917, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188825
9.
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
10.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Lancet Child Adolesc Health
; 6(1): 17-27, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756190
11.
Positive effect of the combination of multilevel contracture release and glucocorticoid treatment in Duchenne muscular dystrophy.
J Child Orthop
; 14(4): 349-352, 2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32874370
12.
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