Found: 10
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Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3900, doi. 10.1093/hmg/ddaa279
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- Publication type:
- Article
Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3954, doi. 10.1093/hmg/ddaa282
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- Publication type:
- Article
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3919, doi. 10.1093/hmg/ddaa278
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- Article
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3892, doi. 10.1093/hmg/ddaa270
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- Publication type:
- Article
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3882, doi. 10.1093/hmg/ddaa276
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- Publication type:
- Article
Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3935, doi. 10.1093/hmg/ddaa275
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- Publication type:
- Article
Separating the genetics of childhood and adult obesity: a validation study of genetic scores for body mass index in adolescence and adulthood in the HUNT Study.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3966, doi. 10.1093/hmg/ddaa256
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- Article
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3945, doi. 10.1093/hmg/ddaa248
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- Publication type:
- Article
Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3872, doi. 10.1093/hmg/ddaa251
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- Publication type:
- Article
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3859, doi. 10.1093/hmg/ddaa220
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- Publication type:
- Article