EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. (Q34368117)

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

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Europe PubMed Central

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1 August 2017

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Europe PubMed Central

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

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Europe PubMed Central

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1 August 2017

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J Zaremba

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Nicholas W. Wood

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N Wood

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M Rossor

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Irena Hausmanowa-Petrusewicz

4

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I Hausmanowa-Petrusewicz

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1 August 2017

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T Gasser

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M Dichgans

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J Finsterer

3

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1 August 2017

K Jurkat-Rott

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1 August 2017

T Klopstock

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E Leguern

7

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A E Lehesjoki

8

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F Lehmann-Horn

9

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T Lynch

10

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H Morris

11

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O K Steinlein

13

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M Zeviani

16

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A Zoharn

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EFNS Task Force on Molecular Diagnosis of Neurologic Disorders

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1 August 2017

publication date

1 September 2001

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1 August 2017

European Journal of Neurology

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1 August 2017

8

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1 August 2017

5

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1 August 2017

407-424

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1 August 2017

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

New developments in the neurobiology of the tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Genetic basis of the human epilepsies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A new locus for hemiplegic migraine maps to chromosome 1q31

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Molecular insights into neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Susceptibility genes in human epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Neurodevelopmental risks in twin-to-twin transfusion syndrome: preliminary findings

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.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.1468-1331.2001.00228.X

21 January 2018

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Classification of the hereditary motor and sensory neuropathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

An autosomal locus predisposing to deletions of mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2001.00228.X

21 January 2018

Identifiers

10.1046/J.1468-1331.2001.00228.X

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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