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Literature DB >> 14638875

Neurogenetics: single gene disorders.

Abstract

The advent of molecular biology has changed the way in which neurological illnesses are classified, and the single genes causing a number of disorders have been identified. In addition, techniques such as linkage analysis and DNA sequencing have resulted in greater understanding of multi-gene diseases. This review covers some of the molecular tools and animal models used for genetic analysis and for DNA based diagnosis, and a brief survey of information available on the internet.

Mesh：

Year: 2003 PMID： 14638875 PMCID： PMC1757413 DOI： 10.1136/jnnp.74.12.1608

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

30 in total

1. Wilson's disease presenting in a family with an apparent dominant history of tremor.

Authors: D J Nicholl; P Ferenci; C Polli; M B Burdon; H S Pall
Journal: J Neurol Neurosurg Psychiatry Date: 2001-04 Impact factor: 10.154

2. Genomes, neuroscience, and neurology.

Authors: S M Pulst
Journal: Arch Neurol Date: 2001-11

3. A Bayesian approach to the transmission/disequilibrium test for binary traits.

Authors: Varghese George; Purushottam W Laud
Journal: Genet Epidemiol Date: 2002-01 Impact factor: 2.135

4. A polymorphic DNA marker genetically linked to Huntington's disease.

Authors: J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal: Nature Date: 1983 Nov 17-23 Impact factor: 49.962

5. Apoptotic molecular machinery: vastly increased complexity in vertebrates revealed by genome comparisons.

Authors: L Aravind; V M Dixit; E V Koonin
Journal: Science Date: 2001-02-16 Impact factor: 47.728

6. Frataxin knockin mouse.

Authors: Carlos J Miranda; Manuela M Santos; Keiichi Ohshima; Julie Smith; Liangtao Li; Michaeline Bunting; Mireille Cossée; Michael Koenig; Jorge Sequeiros; Jerry Kaplan; Massimo Pandolfo
Journal: FEBS Lett Date: 2002-02-13 Impact factor: 4.124

7. Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Authors: Giovanni Cuda; Andrea Mussari; Daniela Concolino; Francesco S Costanzo; Pietro Strisciuglio
Journal: Hum Mutat Date: 2002-03 Impact factor: 4.878

8. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.

Authors: V C Wheeler; J K White; C A Gutekunst; V Vrbanac; M Weaver; X J Li; S H Li; H Yi; J P Vonsattel; J F Gusella; S Hersch; W Auerbach; A L Joyner; M E MacDonald
Journal: Hum Mol Genet Date: 2000-03-01 Impact factor: 6.150

9. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Authors: H Puccio; D Simon; M Cossée; P Criqui-Filipe; F Tiziano; J Melki; C Hindelang; R Matyas; P Rustin; M Koenig
Journal: Nat Genet Date: 2001-02 Impact factor: 38.330

10. Prospects for neurology and psychiatry.

Authors: W M Cowan; E R Kandel
Journal: JAMA Date: 2001-02-07 Impact factor: 56.272

1 in total

1. Human carbonic anhydrase II-cyanate inhibitor complex: putting the debate to rest.

Authors: Dayne West; Melissa A Pinard; Chingkuang Tu; David N Silverman; Robert McKenna
Journal: Acta Crystallogr F Struct Biol Commun Date: 2014-09-25 Impact factor: 1.056

1 in total