(Q34291485)

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

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scholarly article

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Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

1 August 2017

object named as

J Zaremba

15

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Nicholas W. Wood

object named as

N Wood

14

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object named as

M Rossor

12

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Irena Hausmanowa-Petrusewicz

4

object named as

I Hausmanowa-Petrusewicz

1 reference

Europe PubMed Central

1 August 2017

author name string

T Gasser

1

1 reference

Europe PubMed Central

1 August 2017

M Dichgans

2

1 reference

Europe PubMed Central

1 August 2017

J Finsterer

3

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Europe PubMed Central

1 August 2017

K Jurkat-Rott

5

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Europe PubMed Central

1 August 2017

T Klopstock

6

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Europe PubMed Central

1 August 2017

E LeGuern

7

1 reference

Europe PubMed Central

1 August 2017

A E Lehesjoki

8

1 reference

Europe PubMed Central

1 August 2017

F Lehmann-Horn

9

1 reference

Europe PubMed Central

1 August 2017

T Lynch

10

1 reference

Europe PubMed Central

1 August 2017

H Morris

11

1 reference

Europe PubMed Central

1 August 2017

O K Steinlein

13

1 reference

Europe PubMed Central

1 August 2017

M Zeviani

16

1 reference

Europe PubMed Central

1 August 2017

A Zoharn

17

1 reference

Europe PubMed Central

1 August 2017

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders

18

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Europe PubMed Central

1 August 2017

language of work or name

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publication date

1 July 2001

1 reference

Europe PubMed Central

1 August 2017

European Journal of Neurology

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Europe PubMed Central

1 August 2017

8

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Europe PubMed Central

1 August 2017

299-314

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Europe PubMed Central

1 August 2017

4

1 reference

Europe PubMed Central

1 August 2017

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mapping of a familial essential tremor gene, FET1, to chromosome 3q13

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.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/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Muscular dystrophy: historical overview and classification in the genetic era.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.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/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Alzheimer's disease genetics: home runs and strikeouts.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Apolipoprotein E genotyping in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

On extending the transmission/disequilibrium test (TDT).

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Clinical and molecular genetics of primary dystonias

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The hereditary spastic paraplegias.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.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/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The myotonic dystrophies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Spinal muscular atrophy--clinical and genetic correlations

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Laboratory Guidelines for Huntington Disease Genetic Testing

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00226.X

21 January 2018

Identifiers

10.1046/J.1468-1331.2001.00226.X

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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