Clinical genetics in neurological disease.
Open Access
- 1 January 1994
- journal article
- review article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 57 (1) , 7-15
- https://doi.org/10.1136/jnnp.57.1.7
Abstract
No abstract availableThis publication has 37 references indexed in Scilit:
- Molecular analysis and clinical correlations of the Huntington's disease mutationThe Lancet, 1993
- The DNA laboratory and neurological practice.Journal of Neurology, Neurosurgery & Psychiatry, 1993
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 1993
- Experience with screening newborns for Duchenne muscular dystrophy in Wales.BMJ, 1993
- DNA probe technology: implications for service planning in BritainClinical Genetics, 1992
- Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val→lleHuman Molecular Genetics, 1992
- Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.Journal of Medical Genetics, 1992
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991
- Population frequencies of inherited neuromuscular diseases—A world surveyNeuromuscular Disorders, 1991
- Should we test children for "adult" genetic diseases?The Lancet, 1990