(Q34421665)

2 August 2017

title

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis (English)

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2 August 2017

main subject

chorea-acanthocytosis

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author

Anthony Monaco

12

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2 August 2017

Antonio Velayos-Baeza

object named as

Antonio Velayos-Baeza

2

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Anthony Lang

object named as

Anthony E Lang

8

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Anne O. Summers

7

object named as

Anne Summers

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2 August 2017

9

Sylvain Chouinard

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2 August 2017

Carol Dobson-Stone

1

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2 August 2017

An Jansen

3

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2 August 2017

Frederick Andermann

4

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2 August 2017

François Dubeau

5

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2 August 2017

Francine Robert

6

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2 August 2017

Adrian Danek

10

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2 August 2017

Eva Andermann

11

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2 August 2017

publication date

28 September 2005

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2 August 2017

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2 August 2017

volume

6

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2 August 2017

issue

3

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2 August 2017

page(s)

151-158

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Cell-specific signal transduction of parathyroid hormone (PTH)-related protein through stably expressed recombinant PTH/PTHrP receptors in vascular smooth muscle cells

2 August 2017

cites work

1 reference

12 December 2020

Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family

1 reference

12 December 2020

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC)

1 reference

12 December 2020

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

1 reference

12 December 2020

Fusion of a free left Alu monomer and a free right Alu monometer at the origin of the Alu family in the primate genomes

1 reference

12 December 2020

Chorein detection for the diagnosis of chorea-acanthocytosis

1 reference

12 December 2020

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

1 reference

12 December 2020

Chorea-acanthocytosis: genetic linkage to chromosome 9q21

1 reference

12 December 2020

Clinical features and molecular bases of neuroacanthocytosis

1 reference

12 December 2020

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

1 reference

12 December 2020

Promiscuous Coupling of Receptors to Gq Class α Subunits and Effector Proteins in Pancreatic and Submandibular Gland Cells

1 reference

12 December 2020

Characterization of Gq family G proteins GL1 alpha (G14 alpha), GL2 alpha (G11 alpha), and Gq alpha expressed in the baculovirus-insect cell system

1 reference

12 December 2020

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

1 reference

12 December 2020

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

1 reference

12 December 2020

The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec

1 reference

12 December 2020

The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints

1 reference

12 December 2020

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

1 reference

12 December 2020

Analysis of the human VPS13 gene family

1 reference

12 December 2020

Eye movements in chorea-acanthocytosis

1 reference

12 December 2020

Human genetics: lessons from Quebec populations

1 reference

12 December 2020

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

1 reference

12 December 2020

Evolution of the mammalian G protein alpha subunit multigene family

1 reference

12 December 2020

Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases

1 reference

12 December 2020

Distressing belching and neuroacanthocytosis

1 reference

12 December 2020

Differential interaction of GRK2 with members of the G alpha q family

1 reference

12 December 2020

Schizophrenia-like presentation of neuroacanthocytosis.

1 reference

12 December 2020

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.

1 reference

12 December 2020

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

12 December 2020

10.1007/S10048-005-0220-9

Identifiers

DOI

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2 August 2017

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