Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 11-22

  Hsu, Sandy Chan ^a   Sears, Renee L ^a   Lemos, Roberta R ^b,c   Quintáns, Beatriz ^b,d   Huang, Alden ^a   Spiteri, Elizabeth ^a,e   Nevarez, Lisette ^a   Mamah, Catherine ^a,f   Zatz, Mayana ^g   Pierce, Kerrie D ^h   Fullerton, Janice M ^h,i   Adair, John C ^j   Berner, Jon E ^k   Bower, Matthew ^l   Brodaty, Henry ^m   Carmona, Olga ⁿ   Dobricić, Valerija ^o   Fogel, Brent L ^a   García Estevez, Daniel ^p   Goldman, Jill ^q   Goudreau, John L ^r   Hopfer, Suellen ^a,s   Janković, Milena ^o   Jaumà, Serge ^t   Jen, Joanna C ^a   Kirdlarp, Suppachok ^u   Klepper, Joerg ^v   Kostić, Vladimir ^o   Lang, Anthony E ^w   Linglart, Agnès ^x   Maisenbacher, Melissa K ^y   Manyam, Bala V ^z   Mazzoni, Pietro ^q   Miedzybrodzka, Zofia ^aa   Mitarnun, Witoon ^u   Mitchell, Philip B ⁱ   Mueller, Jennifer ^ab   Novaković, Ivana ^o   Paucar, Martin ^ac   Paulson, Henry ^ad   Simpson, Sheila A ^aa   Svenningsson, Per ^ac   Tuite, Paul ^l   Vitek, Jerrold ^l   Wetchaphanphesat, Suppachok ^u   Williams, Charles ^y   Yang, Michele ^a,ae   Schofield, Peter R ^h,i   De Oliveira, João R M ^c   Sobrido, María Jesús ^b,d   Geschwind, Daniel H ^a,af,ag   Coppola, Giovanni ^a,af   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Instituto de Salud Carlos III   (Spain)

^c FEDERAL UNIVERSITY OF PERNAMBUCO   (Brazil)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

ⁱ UNIVERSITY OF NEW SOUTH WALES   (Australia)

^j UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^k Woodinville Psychiatric Associates   (United States)

^l UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^m UNIVERSITY OF NEW SOUTH WALES   (Australia)

ⁿ Figueres Hospital   (Spain)

^o University Clinical Center   (Serbia)

^p Monforte de Lemos Hospital   (Spain)

^q NewYork Presbyterian Hospital   (United States)

^r East Lansing   (United States)

^s PENNSYLVANIA STATE UNIVERSITY   (United States)

^t HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^u Buri Ram Hospital   (Thailand)

^v KLINIKUM ASCHAFFENBURG   (Germany)

^w TORONTO WESTERN HOSPITAL   (Canada)

^x ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^y UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^z PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^aa UNIVERSITY OF ABERDEEN   (United Kingdom)

^ab UNIVERSITY OF FLORIDA   (United States)

^ac KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^ad UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^ae CHILDREN S HOSPITAL COLORADO   (United States)

^af UNIVERSITY OF CALIFORNIA   (United States)

^ag Department of Neurology   (United States)

more..

Author keywords

Basal ganglia calcification; Fahr's; Genetics; Mutations; Sequencing

Indexed keywords

CARRIER PROTEIN; SLC20A2 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; FAHR DISEASE; FAMILY HISTORY; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AMINO ACID SEQUENCE; BASAL GANGLIA DISEASES; CALCINOSIS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NEURODEGENERATIVE DISEASES; RETROSPECTIVE STUDIES; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE III;

EID: 84873738898     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0349-2     Document Type: Article

References (16)

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