The DNA laboratory and neurological practice (Q30495790)

5 October 2017

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title

The DNA laboratory and neurological practice (English)

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5 October 2017

Harding AE

1

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PMC publication ID

1014851

5 October 2017

language of work or name

English

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publication date

1 March 1993

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Journal of Neurology, Neurosurgery and Psychiatry

5 October 2017

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5 October 2017

56

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5 October 2017

3

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5 October 2017

229-233

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

5 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

A polymorphic DNA marker genetically linked to Huntington's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Exclusion testing in pregnancy for Huntington's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Improved diagnosis of Duchenne/Becker muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Recent progress toward understanding the molecular biology of von Recklinghausen neurofibromatosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Diseases of the mitochondrial DNA.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Neurofibromatosis type 2 appears to be a genetically homogeneous disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Instability versus predictability: the molecular diagnosis of myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014851

Prenatal diagnosis of friedreich ataxia

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage analysis of spinal muscular atrophy

1 reference

12 December 2020

Predictive testing for Wilson's disease using tightly linked and flanking DNA markers

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population

1 reference

12 December 2020

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis

1 reference

12 December 2020

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.56.3.229

1 reference

5 October 2017

1 reference

PMC publication ID

1014851

5 October 2017

PubMed publication ID

8459235

1 reference

PMC publication ID

1014851