P2293
Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC)A conserved sorting-associated protein is mutant in chorea-acanthocytosisThe gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosisChorea-acanthocytosis: genetic linkage to chromosome 9q21Chorea-AcanthocytosisTeaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosisAtypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a familyReduction of striatal glucose metabolism in McLeod choreoacanthocytosisShort and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis[Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis][Chorea-acanthocytosis: report of a new family]Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.Choreoacanthocytosis in a Mexican family.Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.Globus pallidus interna deep brain stimulation for chorea-acanthocytosis.Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity.Shape alterations in the striatum in chorea-acanthocytosis.Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindredChorea-acanthocytosis: a report of three new families and implications for genetic counselling.Chorea-acanthocytosis: a case report[Choreoacanthocytosis. A neurologic-hematologic syndrome]Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis.A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.Amyotrophic choreoacanthocytosis: is it really a very rare disease?Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis.HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis.Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.[Chorea-acanthocytosis. A report of a family (author's transl)]Chorea acanthocytosis: clinical pathological and biochemical aspects.Chorein detection for the diagnosis of chorea-acanthocytosis.Axial Sensory Tricks in Chorea-Acanthocytosis: Insights into Phenomenology.Lithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.[Epilepsy revealing chorea-acanthocytosis: about a case].
P921
Q22009139-72F0565B-E4DE-492D-97C1-BC8E70EFEBC9Q24291269-EE5DBF54-2605-4E10-BFE3-F547C4492D72Q24291270-31A09536-F78C-4E84-9A6C-E25C5611C11EQ24678204-5FA93B26-6E53-4631-ADAC-01C619697522Q27023244-2F427B29-FF35-4E8B-B1C4-38158764B7F5Q27348713-B8CA7514-6157-4AE9-AE40-926800ED5304Q28211570-BED03AC9-9BB9-489E-BEC9-FB2BC413A800Q28239127-C69CFFF3-FA8E-406B-B137-694219E87049Q28360522-724C85A9-D71C-43B5-B586-BE589BC68370Q28534842-3BE8AB16-706A-46CD-8F41-0DB2CC038433Q30724499-2AAE7DBF-F9E0-4F19-BE8C-30500528C9F4Q30907743-09FB9666-73C9-40B8-9541-205AC67C156CQ33569154-ACF88597-F121-41B1-8687-77E98A801248Q34122775-2F9EBD51-6093-493A-9A73-2EFDB4C238E1Q34187847-4444C33A-EA46-4E9A-9845-2F76DAFB2C81Q34421665-77DB85D8-D551-4582-A09D-E0EA4E8327DCQ34712897-061AF8A2-2D2B-474B-AA37-890D37CE7B42Q35017827-1D653E38-8DC2-4F08-8FF8-0D59105689C1Q35133583-56C84B28-58C0-43D2-9CE5-E2141361D721Q35553373-CC1E63DE-ADE3-4153-B98F-00A92F910097Q35882880-E6E4A2B7-D122-4BED-8BE5-4E54A5D629A5Q36191176-511526FA-A72B-4841-B231-DD56F00C98CCQ36447893-D2A92D72-D60F-42F5-8FF8-546C36C204C7Q36636039-3454FACD-05C9-414C-9624-8A167E8A2789Q36814963-5764B905-F994-472E-8021-36B0CD161280Q37012611-DA49EA77-249E-408C-BCFA-102B8C1C175EQ37528077-07400C49-CFE9-46B2-AFC0-19ECE0986948Q37648067-00B701C0-E823-40E4-9C65-B66F9050D9A2Q38591977-6F864188-4574-441D-B3CD-AA7FADC996BAQ38597864-0E644F7B-C077-4E75-9606-DAE18EFCCD42Q38711450-54D43ACC-5EB3-40EA-8A03-A8418030FA97Q38713312-22E1E437-A205-40DC-A7A4-4B3B9607E616Q39157766-E0EF1C67-5F77-4781-A488-9428C821FFC1Q39265412-5D9F6FD8-A52F-480F-9D68-C788E80A660FQ39904249-2640CD49-95EB-47F9-8D5D-EC701D65A809Q40119355-8C3F481E-D599-46DF-AB93-1C3350B32737Q40528704-550C7661-6587-4DCC-B9AF-39D4C52BBB3FQ40955858-29364C14-27A0-4C71-8843-91C5391C50CDQ41123498-E3260FED-41EC-4CCA-8D52-B0AF08E17EE6Q41520674-748D5D80-F16D-4A06-B5B1-D7B93025DC45
P921
description
Human disease
@en
Krankheit
@de
malattia
@it
مرض يصيب الإنسان
@ar
name
Chorea-Akanthozytose
@de
chorea-acanthocytosis
@en
chorée-acanthocytose
@fr
corea acantocítica
@ca
corea acantocítica
@es
神経有棘赤血球症
@ja
type
label
Chorea-Akanthozytose
@de
chorea-acanthocytosis
@en
chorée-acanthocytose
@fr
corea acantocítica
@ca
corea acantocítica
@es
神経有棘赤血球症
@ja
altLabel
Acanthocytosis With Neurologic Disorder
@en
CHAC
@en
CHOREOACANTHOCYTOSIS; CHAC
@en
Chorea-acanthocytosis
@en
Choreoacanthocytosis
@en
Levine-Critchley syndrome
@en
Neuroacanthocytosis
@en
Syndrome de Levine-Critchley
@fr
acanthocytose chorée
@fr
choreo-acanthocytosis
@en
prefLabel
Chorea-Akanthozytose
@de
chorea-acanthocytosis
@en
chorée-acanthocytose
@fr
corea acantocítica
@ca
corea acantocítica
@es
神経有棘赤血球症
@ja
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MONDO:0008695
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2776934609
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DOID:0050766