Literature DB >> 8459235

The DNA laboratory and neurological practice.

A E Harding.   

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Year:  1993        PMID： 8459235      PMCID： PMC1014851          DOI： 10.1136/jnnp.56.3.229

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


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  31 in total

1.  Linkage analysis of spinal muscular atrophy.

Authors:  R J Daniels; N H Thomas; R N MacKinnon; T Lehner; J Ott; T J Flint; V Dubowitz; J Ignatius; M Donner; K Zerres
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

2.  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

Review 3.  Improved diagnosis of Duchenne/Becker muscular dystrophy.

Authors:  A H Beggs; L M Kunkel
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

4.  Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.

Authors:  I J Holt; A E Harding; J M Cooper; A H Schapira; A Toscano; J B Clark; J A Morgan-Hughes
Journal:  Ann Neurol       Date:  1989-12       Impact factor: 10.422

5.  Prenatal diagnosis of Friedreich ataxia.

Authors:  J Wallis; J Shaw; D Wilkes; M Farrall; R Williamson; S Chamberlain; J C Skare; A Milunsky
Journal:  Am J Med Genet       Date:  1989-11

6.  Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).

Authors:  G Holmgren; L Steen; J Ekstedt; C G Groth; B G Ericzon; S Eriksson; O Andersen; I Karlberg; G Nordén; M Nakazato
Journal:  Clin Genet       Date:  1991-09       Impact factor: 4.438

7.  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

8.  Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Authors:  F Rousseau; D Heitz; V Biancalana; S Blumenfeld; C Kretz; J Boué; N Tommerup; C Van Der Hagen; C DeLozier-Blanchet; M F Croquette
Journal:  N Engl J Med       Date:  1991-12-12       Impact factor: 91.245

9.  De-novo mutation in hereditary motor and sensory neuropathy type I.

Authors:  J E Hoogendijk; G W Hensels; A A Gabreëls-Festen; F J Gabreëls; E A Janssen; P de Jonghe; J J Martin; C van Broeckhoven; L J Valentijn; F Baas
Journal:  Lancet       Date:  1992-05-02       Impact factor: 79.321

10.  X-linked recessive bulbospinal neuronopathy: a report of ten cases.

Authors:  A E Harding; P K Thomas; M Baraitser; P G Bradbury; J A Morgan-Hughes; J R Ponsford
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-11       Impact factor: 10.154
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  5 in total

Review 1.  Recent advances in muscular dystrophies and myopathies.

Authors:  J R Anderson
Journal:  J Clin Pathol       Date:  1995-07       Impact factor: 3.411

Review 2.  Clinical genetics in neurological disease.

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

Review 3.  Investigation of peripheral neuropathy.

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

Review 4.  Neurology.

Authors:  R S Howard
Journal:  BMJ       Date:  1994-08-06

Review 5.  Diagnosis of inherited metabolic disorders affecting the nervous system.

Authors:  P D Swanson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-11       Impact factor: 10.154
  5 in total

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