Works matching IS 13646745 AND DT 2004 AND VI 5 AND IP 1
Results: 14
Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Glu528del in NEFLis a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Novel splice site CACNA1A mutation causing episodic ataxia type 2.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 69, doi. 10.1007/s10048-003-0161-0
- By:
- Publication type:
- Article
Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 61, doi. 10.1007/s10048-003-0160-1
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- Publication type:
- Article
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 55, doi. 10.1007/s10048-003-0168-6
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- Publication type:
- Article
Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 45, doi. 10.1007/s10048-003-0163-y
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- Publication type:
- Article
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 49, doi. 10.1007/s10048-003-0167-7
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- Publication type:
- Article
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 41, doi. 10.1007/s10048-003-0158-8
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- Publication type:
- Article
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 35, doi. 10.1007/s10048-003-0166-8
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- Publication type:
- Article
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 27, doi. 10.1007/s10048-003-0165-9
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- Publication type:
- Article
Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 19, doi. 10.1007/s10048-003-0171-y
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- Publication type:
- Article
Genetic and environmental factors in the pathogenesis of Huntington's disease.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 9, doi. 10.1007/s10048-003-0169-5
- By:
- Publication type:
- Article
Friedreich ataxia--update on pathogenesis and possible therapies.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 1, doi. 10.1007/s10048-003-0170-z
- By:
- Publication type:
- Article