(Q34615422)

3 August 2017

title

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias (English)

1 reference

3 August 2017

14

1 reference

3 August 2017

A Spinazzola

12

0 references

author name string

T Gasser

1

1 reference

3 August 2017

J Finsterer

2

1 reference

3 August 2017

J Baets

3

1 reference

3 August 2017

C Van Broeckhoven

4

1 reference

3 August 2017

S Di Donato

5

1 reference

3 August 2017

B Fontaine

6

1 reference

3 August 2017

P De Jonghe

7

1 reference

3 August 2017

A Lossos

8

1 reference

3 August 2017

T Lynch

9

1 reference

3 August 2017

C Mariotti

10

1 reference

3 August 2017

L Schöls

11

1 reference

3 August 2017

Z Szolnoki

13

1 reference

3 August 2017

C M E Tallaksen

15

1 reference

3 August 2017

M Zeviani

16

1 reference

3 August 2017

J-M Burgunder

17

1 reference

3 August 2017

H F Harbo

18

1 reference

3 August 2017

EFNS

19

1 reference

3 August 2017

publication date

28 December 2009

1 reference

European Journal of Neurology

3 August 2017

published in

1 reference

3 August 2017

volume

17

1 reference

3 August 2017

issue

2

1 reference

3 August 2017

page(s)

179-188

1 reference

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

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Spinocerebellar ataxias: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

A new dominantly inherited pure cerebellar ataxia, SCA 30.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

SCA19 and SCA22: evidence for one locus with a worldwide distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Primary episodic ataxias: diagnosis, pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

New autosomal recessive cerebellar ataxias with oculomotor apraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Molecular pathology of ataxia telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Recent advances in the genetics of spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2009.02873.X

10.1111/J.1468-1331.2009.02873.X

21 January 2018

Identifiers

DOI

1 reference

release_zgp7sceksjgkfl4rlfnn3ftdvq

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zgp7sceksjgkfl4rlfnn3ftdvq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference