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Literature DB >> 8301308

Clinical genetics in neurological disease.

J C MacMillan¹, P S Harper.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1994 PMID： 8301308 PMCID： PMC485032 DOI： 10.1136/jnnp.57.1.7

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

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33 in total

1. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

Authors: J Collinge; M Poulter; M B Davis; M Baraitser; F Owen; T J Crow; A E Harding
Journal: Am J Hum Genet Date: 1991-12 Impact factor: 11.025

2. Should we test children for "adult" genetic diseases?

Authors: P S Harper; A Clarke
Journal: Lancet Date: 1990-05-19 Impact factor: 79.321

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

Authors: J C MacMillan; P S Harper
Journal: Ann Neurol Date: 1991-09 Impact factor: 10.422

4. 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

5. Molecular analysis and clinical correlations of the Huntington's disease mutation.

Authors: J C MacMillan; R G Snell; A Tyler; G D Houlihan; I Fenton; J P Cheadle; L P Lazarou; D J Shaw; P S Harper
Journal: Lancet Date: 1993-10-16 Impact factor: 79.321

6. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors: R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal: Nat Genet Date: 1993-08 Impact factor: 38.330

7. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

Authors: K Hayasaka; G Takada; V V Ionasescu
Journal: Hum Mol Genet Date: 1993-09 Impact factor: 6.150

Review 8. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors: D Botstein; R L White; M Skolnick; R W Davis
Journal: Am J Hum Genet Date: 1980-05 Impact factor: 11.025

9. Prenatal prediction of spinal muscular atrophy.

Authors: R J Daniels; G K Suthers; K E Morrison; N H Thomas; M J Francis; C G Mathew; S Loughlin; A Heiberg; D Wood; V Dubowitz
Journal: J Med Genet Date: 1992-03 Impact factor: 6.318

10. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Authors: M Koenig; A H Beggs; M Moyer; S Scherpf; K Heindrich; T Bettecken; G Meng; C R Müller; M Lindlöf; H Kaariainen; A de la Chapellet; A Kiuru; M L Savontaus; H Gilgenkrantz; D Récan; J Chelly; J C Kaplan; A E Covone; N Archidiacono; G Romeo; S Liechti-Gailati; V Schneider; S Braga; H Moser; B T Darras; P Murphy; U Francke; J D Chen; G Morgan; M Denton; C R Greenberg; K Wrogemann; L A Blonden; M B van Paassen; G J van Ommen; L M Kunkel
Journal: Am J Hum Genet Date: 1989-10 Impact factor: 11.025

2 in total

Review 1. Advances in neurology.

Authors: C R Kennedy
Journal: Arch Dis Child Date: 1996-09 Impact factor: 3.791

Review 2. Investigation of peripheral neuropathy.

Authors: J G McLeod
Journal: J Neurol Neurosurg Psychiatry Date: 1995-03 Impact factor: 10.154

2 in total