Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Nav1.6).
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2765, doi. 10.1093/hmg/11.22.2765
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 22
Results: 11
1
2
A novel transgenic line of mice exhibiting autosomal recessive male-specific lethality and non-alcoholic fatty liver disease.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2777, doi. 10.1093/hmg/11.22.2777
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- Publication type:
- Article
3
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2723, doi. 10.1093/hmg/11.22.2723
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- Publication type:
- Article
4
Cln3 Δex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2709, doi. 10.1093/hmg/11.22.2709
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- Publication type:
- Article
5
Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2701, doi. 10.1093/hmg/11.22.2701
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- Publication type:
- Article
6
Involvement of survival motor neuron (SMN) protein in cell death.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2751, doi. 10.1093/hmg/11.22.2751
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- Publication type:
- Article
7
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2689, doi. 10.1093/hmg/11.22.2689
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- Publication type:
- Article
8
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2793, doi. 10.1093/hmg/11.22.2793
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- Publication type:
- Article
9
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsα deficiency in platelets.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2741, doi. 10.1093/hmg/11.22.2741
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- Publication type:
- Article
10
Functional association of the parkin gene promoter with idiopathic Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2787, doi. 10.1093/hmg/11.22.2787
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- Publication type:
- Article
11
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 22, p. 2735, doi. 10.1093/hmg/11.22.2735
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- Publication type:
- Article