Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 18
Results: 16
The R172W mutation in peripherin/rds causes a cone–rod dystrophy in transgenic mice.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2075, doi. 10.1093/hmg/ddh211
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- Article
Reduced cellular expression and activity of the P129T mutant of human fatty acid amide hydrolase: evidence for a link between defects in the endocannabinoid system and problem drug use.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2113, doi. 10.1093/hmg/ddh216
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- Article
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1999
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- Article
Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2043, doi. 10.1093/hmg/ddh209
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- Article
Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1989, doi. 10.1093/hmg/ddh210
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- Article
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2121, doi. 10.1093/hmg/ddh223
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- Article
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2031, doi. 10.1093/hmg/ddh222
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- Article
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2155, doi. 10.1093/hmg/ddh221
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- Article
Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 1979, doi. 10.1093/hmg/ddh220
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- Article
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2133, doi. 10.1093/hmg/ddh219
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- Article
Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2143, doi. 10.1093/hmg/ddh218
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- Article
The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a–TIMM13 complex.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2101, doi. 10.1093/hmg/ddh217
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- Article
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2019, doi. 10.1093/hmg/ddh208
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- Article
Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2061, doi. 10.1093/hmg/ddh215
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- Article
Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2011, doi. 10.1093/hmg/ddh214
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- Article
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line.
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- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2089, doi. 10.1093/hmg/ddh213
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- Article