Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).
about
Disruption of the neuronal PAS3 gene in a family affected with schizophreniaRecurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome.Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation.Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.Diagnosis of dystonic syndromes--a new eight-question approach.Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry.SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystoniaNeuropsychiatry of the basal ganglia.Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.Fahr's disease in two siblings in a family: A case report.Bilateral strio-pallido-dentate calcinosis (Fahr's disease): report of seven cases and revision of literature.A Case of Primary Hypoparathyroidism Presenting with Acute Kidney Injury Secondary to RhabdomyolysisFahr's Syndrome- An Interesting Case Presentation.The genetics of dystonias.A Case of Fahr's Disease Presenting as Chorea Successfully Treated by the Use of QuetiapineFahr's syndrome: literature review of current evidence.Differential diagnosis of chorea.Familial idiopathic basal ganglia calcification (Fahr`s disease).The genetics of primary familial brain calcifications.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification ("Fahr's disease").Fahr's disease: a rare neurological presentation in a tropical setting.Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.Fahr's disease: bilateral symmetrical striopallidodentate calcification in two brothers with two distinct presentations.Fahr's Disease Presenting as Mania: A Case Report.Striopallidodentate calcification and progressive supranuclear palsy-like phenotype in a patient with idiopathic hypoparathyroidism.Fahr syndrome unknown complication: overactive bladderMutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification.Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.Prevalence of brain calcifications in a Brazilian cohort: A retrospective study in radiology services.Basal ganglia calcification as a putative cause for cognitive decline.Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.Decreased bioelements content in the hair of patients with Fahr's disease (idiopathic bilateral calcification in the brain).Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2.A case of brain calcifications in postsurgical hypoparathyroidism.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
P2860
Q24677371-A3D370B1-7E0E-4B12-8D66-F297B51DE515Q33161029-929157C1-34A2-455C-BCD8-E0D80714C24EQ33622086-E6467054-AEED-41B0-BF1F-F72EBEAC9D75Q33873292-5AEC48EF-F533-4A32-8DBF-D86DC51AE04DQ34177183-3B3E45E8-028A-4417-900E-C063579D0DF6Q34202236-3B216B56-8114-4321-93C1-3B88679EDD66Q34214535-FF26F8E7-9DA2-4B6D-AEB6-6A164C069E15Q34378391-05B7464E-EDBC-4B8D-89C0-2F8F290B0C37Q34489109-2F721680-4C9C-499A-A36E-FF506BA11304Q34599964-0CA5E118-6139-4B52-A24E-94D41EC5D4DBQ35754222-4DC4E552-2670-43C4-AA6D-2D190F3E577DQ36127183-6D8869D4-766D-4648-9D9E-8D052979E84BQ36724613-1C005235-474E-4B48-AF50-E2938DF5C122Q36740379-DCCCC538-A216-4D2D-8885-58A8B8A70EA6Q36934972-846FF84F-FB6F-44B2-9900-E1647826D6FDQ37202997-C7A01210-EAB2-4F88-AD35-2BBA2DA59AC2Q37369092-6B3F06F6-6E91-4EC9-A481-935C4B1AA8BAQ37861587-A17A93F1-4498-4AD8-B4ED-D90181B8B1A9Q38225167-A6FC218E-4BB7-4773-BAEA-325593F1147DQ38248408-204530D6-F0FC-4E4D-8BCF-24B7B5DA3B6BQ38808532-19C4B040-A4A7-48C4-8EEB-49A6C077C5AEQ39303489-B9FA65E3-F723-4BDF-BC65-C23F33EDFCD9Q39330163-12D6486E-7028-4656-9F02-020A6EFB0A56Q39348698-0CA22C6A-815A-40A8-B45E-653FB6398671Q41974671-A65FD4F1-5FDD-4D06-A1DD-922E2613076BQ41991123-116086DE-A1B7-482B-B177-335C50046A61Q42006452-69591819-A950-447A-8D61-5773D63C59E3Q42037887-BFB750D3-2A79-4B8C-8262-D89F62BAFD86Q42154224-CEA638DD-1F82-42F8-9011-8C5A6093F392Q42485326-F99AC179-6B32-463F-9925-6CC4AE164613Q42485879-3C6234C6-1B8C-4848-BD0E-6CE614E42D5DQ42514012-829DB6BF-CD8B-4283-A6AF-371306117FB6Q45750904-DC65A4EA-3ACF-433B-90D7-368E6C78B366Q46288494-FEA38272-5619-4175-B914-1C70E695F476Q47108563-05AA827A-0601-42F5-9ABF-528B0C165E44Q47835809-AD138C06-6B0B-46D3-9AAA-4E7D6D0913C6Q48325513-27D6F3FD-70F9-47DA-ACE7-926E49A4BD7FQ48424684-C0807778-61D0-474C-8A14-F0698B50365FQ48841386-71342115-7FA2-4DFE-B1C5-514E4C2AB28EQ51942109-1E65240D-9701-4FA9-9205-72764A98BC40
P2860
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a locus on c ...... a calcification (Fahr disease)
@nl
Identification of a locus on c ...... calcification (Fahr disease).
@ast
Identification of a locus on c ...... calcification (Fahr disease).
@en
type
label
Identification of a locus on c ...... a calcification (Fahr disease)
@nl
Identification of a locus on c ...... calcification (Fahr disease).
@ast
Identification of a locus on c ...... calcification (Fahr disease).
@en
prefLabel
Identification of a locus on c ...... a calcification (Fahr disease)
@nl
Identification of a locus on c ...... calcification (Fahr disease).
@ast
Identification of a locus on c ...... calcification (Fahr disease).
@en
P2093
P2860
P3181
P356
P1476
Identification of a locus on c ...... calcification (Fahr disease).
@en
P2093
P2860
P304
P3181
P356
10.1086/302558
P407
P577
1999-09-01T00:00:00Z