(Q45293985)

English

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

scientific article published on 12 May 2009

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

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scholarly article

1 reference

Europe PubMed Central

11 December 2017

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias (English)

1 reference

Europe PubMed Central

11 December 2017

Huntington's disease

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Parkinson's disease

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Sarah J. Tabrizi

14

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Europe PubMed Central

11 December 2017

Antonella Spinazzola

object named as

A Spinazzola

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author name string

H F Harbo

1

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Europe PubMed Central

11 December 2017

J Finsterer

2

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Europe PubMed Central

11 December 2017

J Baets

3

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Europe PubMed Central

11 December 2017

C Van Broeckhoven

4

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Europe PubMed Central

11 December 2017

S Di Donato

5

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Europe PubMed Central

11 December 2017

B Fontaine

6

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Europe PubMed Central

11 December 2017

P De Jonghe

7

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Europe PubMed Central

11 December 2017

A Lossos

8

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Europe PubMed Central

11 December 2017

T Lynch

9

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Europe PubMed Central

11 December 2017

C Mariotti

10

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Europe PubMed Central

11 December 2017

L Schöls

11

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Europe PubMed Central

11 December 2017

Z Szolnoki

13

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Europe PubMed Central

11 December 2017

C Tallaksen

15

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Europe PubMed Central

11 December 2017

M Zeviani

16

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Europe PubMed Central

11 December 2017

J-M Burgunder

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Europe PubMed Central

11 December 2017

T Gasser

18

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Europe PubMed Central

11 December 2017

EFNS

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Europe PubMed Central

11 December 2017

publication date

12 May 2009

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Europe PubMed Central

11 December 2017

European Journal of Neurology

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Europe PubMed Central

11 December 2017

16

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11 December 2017

7

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11 December 2017

777-785

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Europe PubMed Central

11 December 2017

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Genetic testing and Huntington's disease: issues of employment

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Paroxysmal choreoathetosis--a disorder related to Huntington's disease?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Huntington's disease phenocopy syndromes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Huntington disease phenocopy is a familial prion disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Huntington's disease phenocopies are clinically and genetically heterogeneous

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Update on the genetics of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

The role of DYT1 in primary torsion dystonia in Europe.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Myoclonus-dystonia: significance of large SGCE deletions

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02646.X

21 January 2018

Identifiers

10.1111/J.1468-1331.2009.02646.X

1 reference

Europe PubMed Central

11 December 2017

1 reference

Europe PubMed Central

11 December 2017

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