Нервные болезни: генодиагностика, литература


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Bird TD, Bennett RL: Why do DNA testing? Practical and ethical implications of new neurogenetic tests. Ann Neurol 38:141, 1995

Burke JR et al: Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 2:347, 1996

Campuzano V et al: Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423, 1996

Das S et al: Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet 55:883, 1994

Doerflinger N et al: Ataxia with vitamin E deficiency: Refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. Am J Hum Genet 56:1116, 1995

Dubovsky J et al: A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4:453, 1995

Feng Y et al: Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731, 1995

Fink JK et al: Autosomal dominant, familial spastic paraplegia, type I: Clinical and genetic analysis of a large North American family. Neurology 45:325, 1995

Fu Y-H et al: An unstable triplet repeat in a gene related to myotonic dystrophy. Science 255:1256, 1992

Harding AE: Clinical features and classification of inherited ataxias. Adv Neurol 61:1, 1993

Hoffman EP et al: Overexcited or inactive: Ion channels in muscle disease. Cell 80:681, 1995

Holmberg M et al: Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 4:1441, 1995

Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971, 1993

Ichinose H et al: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8:236, 1994

International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group On Huntington's Chorea: Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 44:1533, 1994

Knight SJL et al: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127, 1993

Lander ES, Schork NJ: Genetic dissection of complex traits. Science 265:2037, 1994

La Spada AR et al: Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301, 1992

Levy E et al: Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248:1124, 1990

Longo FM: Transgenic mice: What are we learning about gene function and neurological disease? Neuroscientist 1:309, 1995

MacLennan DH: Discordance between phenotype and genotype in malignant hyperthermia. Curr Opin Neurol 8:397, 1995

Narcisi TM et al: Mutations of the microsomal triglyceride-trans-fer-protein gene in abetalipoproteinemia. Am J Hum Genet 57:1298, 1995

Rees MI et al: Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the al subunit of the inhibitory glycine receptor. Hum Mol Genet 3:2175, 1994

Roses AD: Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer's disease. Ann Neurol 38:6, 1995

Servadio A et al: Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 10:94, 1995

Sine SM et al: Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15:229, 1995

Taroni F et al: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314, 1993

Tburnier-Lasserve E et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 3:256, 1993

Wallgren-Pettersson С et al: The myotubular myopathies: Differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 32: 673, 1995

Wong EV et al: Mutations in the cell adhesion molecule L1 cause mental retardation. Trends Neurosci 18:168, 1995

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