Literature DB >> 1952829

Single-gene neurological disorders in South Wales: an epidemiological study.

J C MacMillan1, P S Harper.   

Abstract

Single-gene neurological disorders account for a significant proportion of the work load of any regional genetics unit. In an attempt to assess the likely impact of recombinant DNA technology on these debilitating diseases, a population prevalence study of the major neurogenetic diseases was carried out in the South Wales region of Great Britain. The minimum overall prevalence of these disorders was estimated to be 58.6/100,000 population.

Entities:  

Mesh：

Year:  1991        PMID： 1952829     DOI： 10.1002/ana.410300314

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  7 in total

Review 1.  Clinical genetics in neurological disease.

Authors:  J C MacMillan; P S Harper
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-01       Impact factor: 10.154

2.  Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

Authors:  J C MacMillan; M Upadhyaya; P S Harper
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  Population based study of late onset cerebellar ataxia in south east Wales.

Authors:  M B Muzaimi; J Thomas; S Palmer-Smith; L Rosser; P S Harper; C M Wiles; D Ravine; N P Robertson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

Review 4.  The epidemiology of Huntington's disease.

Authors:  P S Harper
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

5.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

6.  Protocol for REducing Anti-Psychotic use in residential care-Huntington Disease (REAP-HD): a pilot cluster randomised controlled trial of a multifaceted intervention for health professionals.

Authors:  Clement T Loy; Andrew Hayen; Colleen McKinnon
Journal:  BMJ Open       Date:  2014-12-02       Impact factor: 2.692

Review 7.  Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123
  7 in total

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