4.1 Article

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

A PIGN Mutation Responsible for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) in an Israeli-Arab Family

Morad Khayat et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Genetics & Heredity

A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency

Taku Nakagawa et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Review Genetics & Heredity

The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review

Natario L. Couser et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Biochemistry & Molecular Biology

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

Ming Li et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)

Article Clinical Neurology

Paroxysmal Movement Disorders

Olga Waln et al.

NEUROLOGIC CLINICS (2015)

Article Multidisciplinary Sciences

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

Yiguo Shen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Article Veterinary Sciences

Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier

V. Black et al.

JOURNAL OF SMALL ANIMAL PRACTICE (2014)

Article Clinical Neurology

Idiopathic head tremor in english bulldogs

Julien Guevar et al.

MOVEMENT DISORDERS (2014)

Review Multidisciplinary Sciences

Biosynthesis and deficiencies of glycosylphosphatidylinositol

Taroh Kinoshita

PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES (2014)

Article Veterinary Sciences

Canine Paroxysmal Movement Disorders

Ganokon Urkasemsin et al.

VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE (2014)

Article Clinical Neurology

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

Alexander J. A. Groffen et al.

JOURNAL OF NEUROLOGY (2013)

Article Clinical Neurology

Milder phenotypes of glucose transporter type 1 deficiency syndrome

Geetha Anand et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Article Genetics & Heredity

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Gal Maydan et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Clinical Neurology

An inherited episodic head tremor syndrome in Doberman pinscher dogs

Martina Wolf et al.

MOVEMENT DISORDERS (2011)

Review Clinical Neurology

Paroxysmal Dyskinesias

Kailash P. Bhatia

MOVEMENT DISORDERS (2011)

Article Veterinary Sciences

Characterization and Mode of Inheritance of a Paroxysmal Dyskinesia in Chinook Dogs

R. A. Packer et al.

JOURNAL OF VETERINARY INTERNAL MEDICINE (2010)

Review Clinical Neurology

Definition and Classification of Hyperkinetic Movements in Childhood

Terence D. Sanger et al.

MOVEMENT DISORDERS (2010)

Article Clinical Neurology

The expanding phenotype of GLUT1-deficiency syndrome

Knut Brockmann

BRAIN & DEVELOPMENT (2009)

Article Clinical Neurology

GLUT1 Gene Mutations Cause Sporadic Paroxysmal Exercise-Induced Dyskinesias

Susanne A. Schneider et al.

MOVEMENT DISORDERS (2009)

Review Biochemistry & Molecular Biology

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: Recent progress

Taroh Kinoshita et al.

JOURNAL OF BIOCHEMISTRY (2008)

Article Medicine, Research & Experimental

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

Yvonne G. Weber et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

Article Clinical Neurology

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

M. K. Bruno et al.

NEUROLOGY (2007)

Review Biochemistry & Molecular Biology

GPI anchoring of protein in yeast and mammalian cells, or: how we learned to stop worrying and love glycophospholipids

Peter Orlean et al.

JOURNAL OF LIPID RESEARCH (2007)

Article Biochemistry & Molecular Biology

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

HY Lee et al.

HUMAN MOLECULAR GENETICS (2004)

Article Clinical Neurology

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis

S Rainier et al.

ARCHIVES OF NEUROLOGY (2004)

Article Veterinary Sciences

Muscle pain, cramps and hypertonicity

GD Shelton

VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE (2004)

Article Clinical Neurology

Secondary paroxysmal dyskinesias

J Blakeley et al.

MOVEMENT DISORDERS (2002)

Article Veterinary Sciences

Dyskinesia in an adult bichon frise

J Penderis et al.

JOURNAL OF SMALL ANIMAL PRACTICE (2001)