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1.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31256877
2.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35381069
3.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33449170
4.
[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.
Artículo
en Alemán
| MEDLINE | ID: mdl-32394004
5.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat
; 38(11): 1477-1484, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726266
6.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J Inherit Metab Dis
; 38(5): 905-14, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25868664
7.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24692096
8.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab
; 111(3): 342-352, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24461907
9.
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
Eur J Pediatr
; 173(9): 1253-6, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24973050
10.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 2024 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38587854
11.
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J Med Genet
; 49(4): 277-83, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22499348
12.
[Intrathecal Nursinersen Therapy in Children with Spinal Muscular Atrophy and Spinal Deformities]. / Intrathekale Nursinersen-Therapie bei Kindern mit Spinaler Muskelatrophie und Wirbelsäulendeformitäten.
Klin Padiatr
; 230(4): 231-233, 2018 07.
Artículo
en Alemán
| MEDLINE | ID: mdl-29378349
13.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
Hum Mol Genet
; 19(8): 1413-24, 2010 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20080937
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36274155
15.
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.
Orphanet J Rare Dis
; 16(1): 64, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33541401
16.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med
; 13(1): 55, 2021 04 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33845882
17.
Functional consequences of mitochondrial DNA deletions in human skin fibroblasts: increased contractile strength in collagen lattices is due to oxidative stress-induced lysyl oxidase activity.
Am J Pathol
; 175(3): 1019-29, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19661442
18.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31744015
19.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Neurology
; 95(11): e1512-e1527, 2020 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32796131
20.
Effect and safety of treatment with ACE-inhibitor Enalapril and ß-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
Orphanet J Rare Dis
; 14(1): 105, 2019 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31077250