(Q34997848)

5 August 2017

1 reference

title

Diagnostic testing in neurogenetics. Principles, limitations, and ethical considerations (English)

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5 August 2017

0 references

1 reference

Henry L Paulson

1

1 reference

PubMed ID

12432824

5 August 2017

language of work or name

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1 August 2002

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5 August 2017

1 reference

5 August 2017

20

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5 August 2017

3

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5 August 2017

627-43, v

1 reference

Recent advances in hereditary spastic paraplegia

5 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Mitochondrial DNA mutations in human disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Molecular basis of Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Towards a molecular understanding of Prader-Willi and Angelman syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Fourteen and counting: unraveling trinucleotide repeat diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Trinucleotide repeats in neurogenetic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Progressive myoclonus epilepsy of Unverricht-Lundborg type

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The genetics of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The genetics of late-onset Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Alzheimer's disease: genes, proteins, and therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Genetic testing for Alzheimer disease. Practical and ethical issues

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

NF1 gene and neurofibromatosis 1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Metabolic testing in mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Ataxia and hereditary disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Genetic testing in spinocerebellar ataxias: defining a clinical role

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

Recent advances in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

The neurogenetics genie: testing for the Huntington's disease mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

SCA8 repeat expansions in ataxia: a controversial association.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900009-9

7 January 2021

10.1016/S0733-8619(02)00009-9

Identifiers

DOI

1 reference

5 August 2017

1 reference

PubMed ID

12432824