The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway (Q45116939)

9 December 2017

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

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9 December 2017

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David A Grimes

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Anthony E Lang

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Andrzej Friedman

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Hubert Kwiecinski

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9 December 2017

Hsien-Yang Lee

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9 December 2017

Yong Huang

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9 December 2017

Andrew H Ahn

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9 December 2017

Georg W J Auburger

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Massimo Pandolfo

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Jorgen E Nielsen

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Yuri Averyanov

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Serenella Servidei

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Patrick Van Bogaert

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9 December 2017

Marc J Abramowicz

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Michiko K Bruno

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9 December 2017

Beatrice F Sorensen

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9 December 2017

Ling Tang

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9 December 2017

Ying-Hui Fu

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9 December 2017

Louis J Ptácek

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9 December 2017

language of work or name

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20 October 2004

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9 December 2017

Human Molecular Genetics

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9 December 2017

3161-3170

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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

9 December 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Paroxysmal dystonic choreoathetosis: A family study and review of the literature

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Paroxysmal dyskinesias: clinical features and classification

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

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.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Enhancement of protein modeling by human intervention in applying the automatic programs 3D-JIGSAW and 3D-PSSM.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

The Basal Ganglia and involuntary movements: impaired inhibition of competing motor patterns

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Functional anatomy of thalamus and basal ganglia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Pathophysiology of dystonia: a neuronal model

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

The glyoxalase system in health and disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Molecular cloning, heterologous expression, and characterization of human glyoxalase II

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Identification and phenotypic analysis of two glyoxalase II encoding genes from Saccharomyces cerevisiae, GLO2 and GLO4, and intracellular localization of the corresponding proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Heterologous expression, purification, and kinetic comparison of the cytoplasmic and mitochondrial glyoxalase II enzymes, Glo2p and Glo4p, from Saccharomyces cerevisiae.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Pharmacology of methylglyoxal: formation, modification of proteins and nucleic acids, and enzymatic detoxification--a role in pathogenesis and antiproliferative chemotherapy.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Selective vulnerability of spinal motor neurons to reactive dicarbonyl compounds, intermediate products of glycation, in vitro: implication of inefficient glutathione system in spinal motor neurons

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Mutagens in coffee and other beverages

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Tumor necrosis factor-induced modulation of glyoxalase I activities through phosphorylation by PKA results in cell death and is accompanied by the formation of a specific methylglyoxal-derived AGE

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

Effects of S-lactoylglutathione and inhibitors of glyoxalase I on histamine release from human leukocytes

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

CLUSTAL V: improved software for multiple sequence alignment

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

The Pfam protein families database

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH330

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH330

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9 December 2017

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