Molecular studies of chorein, the protein altered in chorea-acanthocytosis.

Molecular studies of chorein, the protein altered in chorea-acanthocytosis.

Manylion Llyfryddiaeth
Prif Awduron:	Dobson-Stone, C, Velayos, A, Monaco, A
Fformat:	Conference item
Cyhoeddwyd:	2003

Eitemau Tebyg

Chorein detection for the diagnosis of chorea-acanthocytosis.
gan: Dobson-Stone, C, et al.
Cyhoeddwyd: (2004)

Chorein expression in post-mortem brain tissue of Chorea-Acanthocytosis patients and non-affected controls
gan: Bader, B, et al.
Cyhoeddwyd: (2007)

The genotype and phenotype of chorea-acanthocytosis
gan: Bader, B, et al.
Cyhoeddwyd: (2008)

Molecular genetics of chorea-acanthocytosis
gan: Dobson-Stone, C, et al.
Cyhoeddwyd: (2004)

The function of chorein
gan: Velayos-Baeza, A, et al.
Cyhoeddwyd: (2008)

Identification and characterisation of the gene for chorea-acanthocytosis.
gan: Rampoldi, L, et al.
Cyhoeddwyd: (2001)

Identification and analysis of the new, Vps13-like gene (V13LG) family that includes CHAC, the gene altered in chorea-acanthocytosis.
gan: Velayos, A, et al.
Cyhoeddwyd: (2003)

Autosomal recessive transmission of chorea-acanthocytosis confirmed.
gan: Danek, A, et al.
Cyhoeddwyd: (2012)

Autosomal recessive transmission of chorea-acanthocytosis confirmed
gan: Danek, A, et al.
Cyhoeddwyd: (2012)

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
gan: Rampoldi, L, et al.
Cyhoeddwyd: (2001)

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
gan: Velayos-Baeza, A, et al.
Cyhoeddwyd: (2011)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
gan: Velayos-Baeza, A, et al.
Cyhoeddwyd: (2011)

Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
gan: Velayos-Baeza, A, et al.
Cyhoeddwyd: (2011)

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).
gan: Rubio, J, et al.
Cyhoeddwyd: (1999)

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
gan: Dobson-Stone, C, et al.
Cyhoeddwyd: (2005)

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
gan: Bohlega, S, et al.
Cyhoeddwyd: (2003)

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
gan: Walker, R, et al.
Cyhoeddwyd: (2012)

New pathogenic mutation of chorea-acanthocytosis
gan: A. Garrido-Fernández, et al.
Cyhoeddwyd: (2020-03-01)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
gan: Dobson-Stone, C, et al.
Cyhoeddwyd: (2002)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
gan: Dobson-Stone, C, et al.
Cyhoeddwyd: (2002)

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.
gan: Bader, B, et al.
Cyhoeddwyd: (2009)

Chorea-Acanthocytosis: A Case Report
gan: Bilge Koçer, et al.
Cyhoeddwyd: (2007-12-01)

Chorea-acanthocytosis: a case report
gan: Thapa L, et al.
Cyhoeddwyd: (2016-02-01)

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
gan: Rubio, J, et al.
Cyhoeddwyd: (1997)

Familial mesial temporal lobe epilepsy associated with a deletion mutation in the chorea-acanthocytosis gene
gan: Andermann, E, et al.
Cyhoeddwyd: (2005)

Neuroacanthocytosis: a case report of chorea-acanthocytosis
gan: Yuanyuan Xiang, Shan Li, Xiaohui Liu, Jifeng, Li, Qinjian, Sun, Yan, Chen, Yifeng Du, Junwei Wu
Cyhoeddwyd: (2019-06-01)

HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis
gan: Adrian Danek, et al.
Cyhoeddwyd: (2017-03-01)

Axial Sensory Tricks in Chorea–Acanthocytosis: Insights into Phenomenology
gan: Roongroj Bhidayasiri, et al.
Cyhoeddwyd: (2017-06-01)

Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis
gan: Kevin Peikert, et al.
Cyhoeddwyd: (2021-05-01)

Eighth International Chorea–Acanthocytosis Symposium: summary of workshop discussion and action Points
gan: Pappas, S, et al.
Cyhoeddwyd: (2017)

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
gan: Spieler, D, et al.
Cyhoeddwyd: (2020)

Chorein deficiency and Alzheimer disease: an intriguing, yet premature speculation
gan: Velayos-Baeza, A, et al.
Cyhoeddwyd: (2017)

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
gan: Derek Spieler, et al.
Cyhoeddwyd: (2020-09-01)

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
gan: Fang Yi, et al.
Cyhoeddwyd: (2018-07-01)

Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium
gan: Felix Reichel, et al.
Cyhoeddwyd: (2022-04-01)

Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus
gan: Mehri Salari, et al.
Cyhoeddwyd: (2017-01-01)

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data
gan: Weibin He, et al.
Cyhoeddwyd: (2022-09-01)

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis
gan: Hao Yu, et al.
Cyhoeddwyd: (2024-09-01)

Chorein deficiency promotes ferroptosis
gan: Yoshiaki Nishizawa, et al.
Cyhoeddwyd: (2025-01-01)

Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis
gan: Søren Bruno Elmgreen
Cyhoeddwyd: (2019-01-01)