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.
Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity.
Neuropediatrics
; 55(2): 117-123, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181817
3.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
4.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
PLoS Genet
; 16(3): e1008625, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176688
5.
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy.
Eur Arch Otorhinolaryngol
; 280(3): 1329-1338, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209319
6.
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Hum Mutat
; 43(9): 1224-1233, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510366
7.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
8.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Ann Neurol
; 90(5): 738-750, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564892
9.
Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings.
BMC Pediatr
; 22(1): 596, 2022 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229869
10.
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen.
J Cell Mol Med
; 25(17): 8419-8431, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312963
11.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149277
12.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clin Genet
; 100(6): 766-770, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490615
13.
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.
Ann Neurol
; 88(1): 148-159, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314416
14.
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center.
Neuropediatrics
; 52(3): 179-185, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276405
15.
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Am J Hum Genet
; 101(6): 1013-1020, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220673
16.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
17.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
18.
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.
Neuropediatrics
; 51(6): 435-439, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32818970
19.
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
Health Qual Life Outcomes
; 18(1): 219, 2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646436
20.
[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