Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
About this item
Full title
Author / Creator
Hsu, Sandy Chan , Sears, Renee L. , Lemos, Roberta R. , Quintáns, Beatriz , Huang, Alden , Spiteri, Elizabeth , Nevarez, Lisette , Mamah, Catherine , Zatz, Mayana , Pierce, Kerrie D. , Fullerton, Janice M. , Adair, John C. , Berner, Jon E. , Bower, Matthew , Brodaty, Henry , Carmona, Olga , Dobricić, Valerija , Fogel, Brent L. , García-Estevez, Daniel , Goldman, Jill , Goudreau, John L. , Hopfer, Suellen , Janković, Milena , Jaumà, Serge , Jen, Joanna C. , Kirdlarp, Suppachok , Klepper, Joerg , Kostić, Vladimir , Lang, Anthony E. , Linglart, Agnès , Maisenbacher, Melissa K. , Manyam, Bala V. , Mazzoni, Pietro , Miedzybrodzka, Zofia , Mitarnun, Witoon , Mitchell, Philip B. , Mueller, Jennifer , Novaković, Ivana , Paucar, Martin , Paulson, Henry , Simpson, Sheila A. , Svenningsson, Per , Tuite, Paul , Vitek, Jerrold , Wetchaphanphesat, Suppachok , Williams, Charles , Yang, Michele , Schofield, Peter R. , de Oliveira, João R. M. , Sobrido, María-Jesús , Geschwind, Daniel H. and Coppola, Giovanni
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fash...
Alternative Titles
Full title
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Authors, Artists and Contributors
Author / Creator
Sears, Renee L.
Lemos, Roberta R.
Quintáns, Beatriz
Huang, Alden
Spiteri, Elizabeth
Nevarez, Lisette
Mamah, Catherine
Zatz, Mayana
Pierce, Kerrie D.
Fullerton, Janice M.
Adair, John C.
Berner, Jon E.
Bower, Matthew
Brodaty, Henry
Carmona, Olga
Dobricić, Valerija
Fogel, Brent L.
García-Estevez, Daniel
Goldman, Jill
Goudreau, John L.
Hopfer, Suellen
Janković, Milena
Jaumà, Serge
Jen, Joanna C.
Kirdlarp, Suppachok
Klepper, Joerg
Kostić, Vladimir
Lang, Anthony E.
Linglart, Agnès
Maisenbacher, Melissa K.
Manyam, Bala V.
Mazzoni, Pietro
Miedzybrodzka, Zofia
Mitarnun, Witoon
Mitchell, Philip B.
Mueller, Jennifer
Novaković, Ivana
Paucar, Martin
Paulson, Henry
Simpson, Sheila A.
Svenningsson, Per
Tuite, Paul
Vitek, Jerrold
Wetchaphanphesat, Suppachok
Williams, Charles
Yang, Michele
Schofield, Peter R.
de Oliveira, João R. M.
Sobrido, María-Jesús
Geschwind, Daniel H.
Coppola, Giovanni
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_532005
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_532005
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-012-0349-2
