The genotype and phenotype of chorea-acanthocytosis

The genotype and phenotype of chorea-acanthocytosis

Bibliografiske detaljer
Main Authors:	Bader, B, Dobson-Stone, C, Velayos-Baeza, A, Monaco, A, Danek, A
Format:	Conference item
Udgivet:	2008

Lignende værker

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

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

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

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

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

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

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

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

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

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

Molecular studies of chorein, the protein altered in chorea-acanthocytosis.
af: Dobson-Stone, C, et al.
Udgivet: (2003)

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

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

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

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

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

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

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

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

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

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

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

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

The chorea of McLeod syndrome.
af: Danek, A, et al.
Udgivet: (2001)

McLeod neuroacanthocytosis: genotype and phenotype.
af: Danek, A, et al.
Udgivet: (2001)

Chorea.
af: Hu, M, et al.
Udgivet: (2009)

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

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

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study.
af: Porter, D, et al.
Udgivet: (2004)

Analysis of the human VPS13 gene family.
af: Velayos-Baeza, A, et al.
Udgivet: (2004)

Thalamotomy for postapoplectic hemiballistic chorea in older adults.
af: Astradsson, A, et al.
Udgivet: (2010)

Replicating genotype-phenotype associations.
af: Chanock, S, et al.
Udgivet: (2007)

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
af: Velayos-Baeza, A, et al.
Udgivet: (2008)

Bilateral chorea-ballism after cardiac arrest.
af: Di Lazzaro, V, et al.
Udgivet: (2005)

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
af: Wettstein, S, et al.
Udgivet: (2014)

The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.
af: Levecque, C, et al.
Udgivet: (2009)

Genotypic and phenotypic characterization of chikungunya virus of different genotypes from Malaysia
af: Sam, I.C., et al.
Udgivet: (2012)

Proxy genotypes and phenotypes for human genetics
af: Yelensky, Roman
Udgivet: (2009)

Genotype and phenotype relationships in neurodevelopmental disorders
af: Vrcelj, K
Udgivet: (2017)

Probabilistic bias in genotype-phenotype maps
af: Dingle, K
Udgivet: (2014)