Found: 15
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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1755, doi. 10.1093/hmg/ddz003
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- Publication type:
- Article
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1872, doi. 10.1093/hmg/ddz025
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- Article
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1837, doi. 10.1093/hmg/ddz023
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- Article
Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz–Jeghers syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1885, doi. 10.1093/hmg/ddz027
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- Article
GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1894, doi. 10.1093/hmg/ddz030
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- Article
Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1822, doi. 10.1093/hmg/ddz022
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- Article
MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1782, doi. 10.1093/hmg/ddz008
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- Article
homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1 -related osteogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1801, doi. 10.1093/hmg/ddz017
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- Article
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1865, doi. 10.1093/hmg/ddz028
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- Article
Neuroprotective effects of PACAP against paraquat-induced oxidative stress in the Drosophila central nervous system.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1905, doi. 10.1093/hmg/ddz031
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- Article
Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1810, doi. 10.1093/hmg/ddz020
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- Article
effect of mutant GBA1 on accumulation and aggregation of α -synuclein.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1768, doi. 10.1093/hmg/ddz005
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- Publication type:
- Article
Corrigendum: Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1930, doi. 10.1093/hmg/ddz035
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- Article
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
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- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1919, doi. 10.1093/hmg/ddz032
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- Publication type:
- Article
Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1853, doi. 10.1093/hmg/ddz024
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- Article