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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. V
- Published in:
- Der Nervenarzt, 2020, v. 91, n. 6, p. 518, doi. 10.1007/s00115-020-00919-8
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- Publication type:
- Article
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
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- Orphanet Journal of Rare Diseases, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13023-019-1066-9
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- Publication type:
- Article
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1413, doi. 10.1093/hmg/ddq016
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- Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
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- Article
S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements.
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- Nucleic Acids Research, 1997, v. 25, n. 12, p. 2535, doi. 10.1093/nar/25.12.2535
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- Article
Progressive Sensorineural Hearing Loss in Children With Mitochondrial Encephalomyopathies.
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- Laryngoscope, 2001, v. 111, n. 3, p. 515, doi. 10.1097/00005537-200103000-00024
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- Article
Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome).
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013513
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- Article
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
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- Article
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
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- European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1253, doi. 10.1007/s00431-014-2368-5
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- Article
Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.
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- 2005
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- Publication type:
- journal article
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.
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- European Journal of Pediatrics, 2003, v. 162, n. 1, p. 6, doi. 10.1007/s00431-002-1097-3
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- Publication type:
- Article
Identification of genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
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- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-10
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- Publication type:
- Article
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
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- Human Mutation, 2005, v. 26, n. 6, p. 590, doi. 10.1002/humu.20270
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- Publication type:
- Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131
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- Publication type:
- Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
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- Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
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- Publication type:
- Article
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
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- JAMA Pediatrics, 2024, v. 178, n. 6, p. 540, doi. 10.1001/jamapediatrics.2024.0492
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- Article
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.
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- 2021
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- Publication type:
- journal article
Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 1, p. 38, doi. 10.1002/ana.10232
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- Article
Identical mitochondrial DNA in monozygotic twins with discordant adrenoleukodystrophy phenotype.
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- 1998
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- Publication type:
- case study
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.
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- Annals of Neurology, 1996, v. 40, n. 2, p. 254, doi. 10.1002/ana.410400221
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- Publication type:
- Article
Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal...
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- Journal of Child Neurology, 2001, v. 16, n. 8, p. 616
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- Publication type:
- Article