(Q30481800)

15 August 2017

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

1 reference

15 August 2017

1 reference

1 reference

29

0 references

Judith Kempfle

5

0 references

Alexander Münchau

21

0 references

Lucia Margari

object named as

Lucia Margari

7

0 references

Thomas Gasser

25

object named as

Thomas Gasser

1 reference

Kailash Phatechand Bhatia

15 August 2017

Mark J Edwards

22

0 references

27

object named as

Kailash P Bhatia

1 reference

15 August 2017

9

Susanne A Schneider

1 reference

15 August 2017

20

Felix M Mottaghy

1 reference

15 August 2017

Yvonne G Weber

1

1 reference

15 August 2017

Alexander Storch

2

1 reference

15 August 2017

Thomas V Wuttke

3

1 reference

15 August 2017

Knut Brockmann

4

1 reference

15 August 2017

Snezana Maljevic

6

1 reference

15 August 2017

Christoph Kamm

8

1 reference

15 August 2017

Stephan M Huber

10

1 reference

15 August 2017

Arnulf Pekrun

11

1 reference

15 August 2017

Robert Roebling

12

1 reference

15 August 2017

Guiscard Seebohm

13

1 reference

15 August 2017

Saisudha Koka

14

1 reference

15 August 2017

Camelia Lang

15

1 reference

15 August 2017

Eduard Kraft

16

1 reference

15 August 2017

Dragica Blazevic

17

1 reference

15 August 2017

Alberto Salvo-Vargas

18

1 reference

15 August 2017

Michael Fauler

19

1 reference

15 August 2017

Anna Presicci

23

1 reference

15 August 2017

Francesco Margari

24

1 reference

15 August 2017

Florian Lang

26

1 reference

15 August 2017

Frank Lehmann-Horn

28

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 June 2008

1 reference

Journal of Clinical Investigation

15 August 2017

1 reference

15 August 2017

118

1 reference

15 August 2017

6

1 reference

15 August 2017

2157-2168

1 reference

New family with paroxysmal exercise-induced dystonia and epilepsy

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Circuits and circuit disorders of the basal ganglia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Pathomechanisms in channelopathies of skeletal muscle and brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Ion channel defects in idiopathic epilepsies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Mechanisms of suicidal erythrocyte death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecu

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

GLUT‐1 deficiency without epilepsy—an exceptional case

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Structural analysis of the GLUT1 facilitative glucose transporter (review).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Familial (idiopathic) paroxysmal dyskinesias: an update

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Cysteine-scanning mutagenesis of transmembrane segment 7 of the GLUT1 glucose transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Movement disorders following lesions of the thalamus or subthalamic region

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Glucose transporter proteins in brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Present status of spiculed red cells and their relationship to the discocyte-echinocyte transformation: a critical review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Selective neuronal vulnerability: morphological and molecular characteristics.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Effect of phosphatidylserine on the shape of McLeod red cell acanthocytes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Diagnostic tests for choreoacanthocytosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Liquid junction potentials and small cell effects in patch-clamp analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Control of respiration and ATP synthesis in mammalian mitochondria and cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

The syndrome of fixed dystonia: an evaluation of 103 patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

T2*-weighted MRI differentiates multiple system atrophy from Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2350432

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

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18451999

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI34438

1 reference

15 August 2017

1 reference

15 August 2017

1 reference