Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 21
Results: 12
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3637, doi. 10.1093/hmg/ddz222
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- Article
Intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3610, doi. 10.1093/hmg/ddz220
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- Article
Molecular mechanism for the multiple sclerosis risk variant rs17594362.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3600, doi. 10.1093/hmg/ddz216
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- Article
Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3625, doi. 10.1093/hmg/ddz208
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- Article
SNV identification from single-cell RNA sequencing data.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3569, doi. 10.1093/hmg/ddz207
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- Article
RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase–mediated centrosomal cohesion and ciliogenesis deficits.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3552, doi. 10.1093/hmg/ddz201
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- Article
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3543, doi. 10.1093/hmg/ddz200
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- Article
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3528, doi. 10.1093/hmg/ddz199
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- Article
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3515, doi. 10.1093/hmg/ddz195
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Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3680, doi. 10.1093/hmg/ddz193
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- Article
Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3584, doi. 10.1093/hmg/ddz190
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- Article
Glucosylceramide synthase silencing combined with the receptor tyrosine kinase inhibitor axitinib as a new multimodal strategy for glioblastoma.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3664, doi. 10.1093/hmg/ddz152
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- Article