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.
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Genet Med
; 25(5): 100798, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727596
3.
[Newborn screening program for spinal muscular atrophy]. / Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
Nervenarzt
; 93(2): 135-141, 2022 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-34652481
4.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain
; 142(8): 2230-2237, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332433
5.
Multicenter Experience with Nusinersen Application via an Intrathecal Port and Catheter System in Spinal Muscular Atrophy.
Neuropediatrics
; 51(6): 401-406, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33091940
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.
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Mol Cell Probes
; 44: 14-20, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30682426
8.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Am J Hum Genet
; 97(4): 546-54, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387594
9.
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
J Neuromuscul Dis
; 11(1): 143-151, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927272
10.
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
11.
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
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.
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
Children (Basel)
; 9(12)2022 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553273
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.
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
J Neuromuscul Dis
; 9(3): 389-396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35431259
16.
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany.
Orphanet J Rare Dis
; 17(1): 276, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854272
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.
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
JIMD Rep
; 60(1): 42-55, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258140
19.
Nuclear restriction of HIV-1 infection by SUN1.
Sci Rep
; 11(1): 19128, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580332
20.
Seizures associated with antibodies against cell surface antigens are acute symptomatic and not indicative of epilepsy: insights from long-term data.
J Neurol
; 268(3): 1059-1069, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025119