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

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

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Dobson-Stone, C, Velayos, A, Monaco, A
Формат:	Conference item
Хэвлэсэн:	2003

Ижил төстэй зүйлс

Chorein detection for the diagnosis of chorea-acanthocytosis.
-н: Dobson-Stone, C, зэрэг
Хэвлэсэн: (2004)

Chorein expression in post-mortem brain tissue of Chorea-Acanthocytosis patients and non-affected controls
-н: Bader, B, зэрэг
Хэвлэсэн: (2007)

The genotype and phenotype of chorea-acanthocytosis
-н: Bader, B, зэрэг
Хэвлэсэн: (2008)

Molecular genetics of chorea-acanthocytosis
-н: Dobson-Stone, C, зэрэг
Хэвлэсэн: (2004)

The function of chorein
-н: Velayos-Baeza, A, зэрэг
Хэвлэсэн: (2008)

Identification and characterisation of the gene for chorea-acanthocytosis.
-н: Rampoldi, L, зэрэг
Хэвлэсэн: (2001)

Identification and analysis of the new, Vps13-like gene (V13LG) family that includes CHAC, the gene altered in chorea-acanthocytosis.
-н: Velayos, A, зэрэг
Хэвлэсэн: (2003)

Autosomal recessive transmission of chorea-acanthocytosis confirmed.
-н: Danek, A, зэрэг
Хэвлэсэн: (2012)

Autosomal recessive transmission of chorea-acanthocytosis confirmed
-н: Danek, A, зэрэг
Хэвлэсэн: (2012)

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
-н: Rampoldi, L, зэрэг
Хэвлэсэн: (2001)

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
-н: Velayos-Baeza, A, зэрэг
Хэвлэсэн: (2011)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
-н: Velayos-Baeza, A, зэрэг
Хэвлэсэн: (2011)

Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
-н: Velayos-Baeza, A, зэрэг
Хэвлэсэн: (2011)

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC).
-н: Rubio, J, зэрэг
Хэвлэсэн: (1999)

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.
-н: Dobson-Stone, C, зэрэг
Хэвлэсэн: (2005)

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.
-н: Bohlega, S, зэрэг
Хэвлэсэн: (2003)

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
-н: Walker, R, зэрэг
Хэвлэсэн: (2012)

New pathogenic mutation of chorea-acanthocytosis
-н: A. Garrido-Fernández, зэрэг
Хэвлэсэн: (2020-03-01)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
-н: Dobson-Stone, C, зэрэг
Хэвлэсэн: (2002)

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
-н: Dobson-Stone, C, зэрэг
Хэвлэсэн: (2002)

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.
-н: Bader, B, зэрэг
Хэвлэсэн: (2009)

Chorea-Acanthocytosis: A Case Report
-н: Bilge Koçer, зэрэг
Хэвлэсэн: (2007-12-01)

Chorea-acanthocytosis: a case report
-н: Thapa L, зэрэг
Хэвлэсэн: (2016-02-01)

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
-н: Rubio, J, зэрэг
Хэвлэсэн: (1997)

Familial mesial temporal lobe epilepsy associated with a deletion mutation in the chorea-acanthocytosis gene
-н: Andermann, E, зэрэг
Хэвлэсэн: (2005)

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

HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis
-н: Adrian Danek, зэрэг
Хэвлэсэн: (2017-03-01)

Axial Sensory Tricks in Chorea–Acanthocytosis: Insights into Phenomenology
-н: Roongroj Bhidayasiri, зэрэг
Хэвлэсэн: (2017-06-01)

Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis
-н: Kevin Peikert, зэрэг
Хэвлэсэн: (2021-05-01)

Eighth International Chorea–Acanthocytosis Symposium: summary of workshop discussion and action Points
-н: Pappas, S, зэрэг
Хэвлэсэн: (2017)

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
-н: Spieler, D, зэрэг
Хэвлэсэн: (2020)

Chorein deficiency and Alzheimer disease: an intriguing, yet premature speculation
-н: Velayos-Baeza, A, зэрэг
Хэвлэсэн: (2017)

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
-н: Derek Spieler, зэрэг
Хэвлэсэн: (2020-09-01)

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode
-н: Fang Yi, зэрэг
Хэвлэсэн: (2018-07-01)

Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium
-н: Felix Reichel, зэрэг
Хэвлэсэн: (2022-04-01)

Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus
-н: Mehri Salari, зэрэг
Хэвлэсэн: (2017-01-01)

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data
-н: Weibin He, зэрэг
Хэвлэсэн: (2022-09-01)

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis
-н: Hao Yu, зэрэг
Хэвлэсэн: (2024-09-01)

Chorein deficiency promotes ferroptosis
-н: Yoshiaki Nishizawa, зэрэг
Хэвлэсэн: (2025-01-01)

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