(Q38072609)

28 August 2017

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title

PRRT2-related disorders: further PKD and ICCA cases and review of the literature (English)

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28 August 2017

19

Anna-Elina Lehesjoki

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28 August 2017

16

Ludger Schöls

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28 August 2017

18

Alexander Münchau

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28 August 2017

Felicitas Becker

1

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28 August 2017

Julian Schubert

2

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28 August 2017

Pasquale Striano

3

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28 August 2017

Anna-Kaisa Anttonen

4

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28 August 2017

Elina Liukkonen

5

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28 August 2017

Eija Gaily

6

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28 August 2017

Christian Gerloff

7

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28 August 2017

Stephan Müller

8

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28 August 2017

Nicole Heußinger

9

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28 August 2017

Christoph Kellinghaus

10

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28 August 2017

Angela Robbiano

11

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28 August 2017

Anne Polvi

12

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28 August 2017

Simone Zittel

13

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28 August 2017

Tim J von Oertzen

14

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28 August 2017

Kevin Rostasy

15

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28 August 2017

Tom Warner

17

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28 August 2017

Federico Zara

20

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28 August 2017

Holger Lerche

21

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28 August 2017

Yvonne G Weber

22

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28 August 2017

publication date

9 January 2013

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28 August 2017

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28 August 2017

volume

260

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28 August 2017

issue

5

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28 August 2017

page(s)

1234-1244

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https://scigraph.springernature.com/pub.10.1007/s00415-012-6777-y

28 August 2017

exact match

0 references

cites work

Paroxysmal dystonia with thalamic lesion in multiple sclerosis.

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Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

PRRT2 mutations are the major cause of benign familial infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

The SNARE protein SNAP-25 is linked to fast calcium triggering of exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Paroxysmal dyskinesias: clinical features and classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Familial paroxysmal dystonia induced by exercise

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Paroxysmal hemidystonia induced by prolonged exercise and cold

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

A human protein-protein interaction network: a resource for annotating the proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Cloning and sequence analysis of the human SNAP25 cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6777-Y

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

21 January 2018

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

12 December 2020

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

1 reference

12 December 2020

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

1 reference

12 December 2020

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families

1 reference

12 December 2020

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

1 reference

12 December 2020

[Paroxysmal dyskinesias]

1 reference

12 December 2020

Familial paroxysmal dystonia

1 reference

12 December 2020

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

1 reference

12 December 2020

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

1 reference

12 December 2020

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

1 reference

12 December 2020

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

1 reference

12 December 2020

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

1 reference

12 December 2020

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

1 reference

12 December 2020

10.1007/S00415-012-6777-Y

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1011148639

0 references

1 reference