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.
[Spinal muscular atrophy]. / Spinale Muskelatrophie.
Nervenarzt
; 93(2): 191-200, 2022 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-35037967
3.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Am J Med Genet A
; 182(10): 2272-2283, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776697
4.
Severity of Cerebral Palsy-The Impact of Associated Impairments.
Neuropediatrics
; 51(2): 120-128, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120428
5.
The Origin of the Cerebral Palsies: Contribution of Population-Based Neuroimaging Data.
Neuropediatrics
; 51(2): 113-119, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120429
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.
MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations.
Dev Med Child Neurol
; 59(1): 57-64, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27325153
8.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Eur J Hum Genet
; 32(3): 350-356, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200082
9.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
10.
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
11.
Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe.
Neurology
; 101(24): e2509-e2521, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857495
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.
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
Am J Med Genet A
; 158A(10): 2587-90, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965684
14.
Interrater reliability study of cerebral palsy diagnosis, neurological subtype, and gross motor function.
Dev Med Child Neurol
; 54(9): 815-21, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22809361
15.
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
16.
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
17.
The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy.
Front Neurol
; 11: 628075, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633660
18.
Neuroimaging Patterns and Function in Cerebral Palsy-Application of an MRI Classification.
Front Neurol
; 11: 617740, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613420
19.
Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies.
Front Neurol
; 11: 303, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32411079
20.
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