PDGFB partial deletion: A new, rare mechanism causing brain calcification with leukoencephalopathy

Journal of Molecular Neuroscience

Volumn 53, Issue 2, 2014, Pages 171-175

  Nicolas, Gaël ^a,b,c,f,i,j   Rovelet Lecrux, Anne ^a,b,f,i,j   Pottier, Cyril ^a,b,f,i,j   Martinaud, Olivier ^b,c,i,j   Wallon, David ^a,b,c,f,i,j   Vernier, Louis ^c   Landemore, Gérard ^d   Chapon, Françoise ^d   Prieto Morin, Carol ^e,g   Tournier Lasserve, Elisabeth ^e,g   Frébourg, Thierry ^a,c,f   Campion, Dominique ^a,b,f,h,i,j   Hannequin, Didier ^b,c,f,i,j  

^a INSERM   (France)

^b CNR MAJ   (France)

^c ROUEN UNIVERSITY HOSPITAL   (France)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL LARIBOISIÈRE   (France)

^f UNIVERSITY OF ROUEN   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h Rouvray Psychiatric Hospital   (France)

ⁱ Lille and Paris Salpêtrière University Hospitals   (France)

^j Reference Centre of Rare Diseases of Face and Buccal Cavity   (France)

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Author keywords

CNV; Deletion; Dementia; Fahr's disease; IBGC; PDGFB; QMPSF

Indexed keywords

COMPLEMENTARY DNA; PLATELET DERIVED GROWTH FACTOR B; SLC20A2 PROTEIN, HUMAN; SODIUM PHOSPHATE COTRANSPORTER 3;

AGED; ALLELE; ARTICLE; BRAIN CALCIFICATION; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; FAHR DISEASE; FEMALE; GAIT DISORDER; GENE; GENE DELETION; HETEROZYGOSITY; HUMAN; LEUKOENCEPHALOPATHY; MOOD DISORDER; NUCLEOTIDE SEQUENCE; PDGFB GENE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WHITE MATTER; BASAL GANGLIA DISEASES; CALCINOSIS; CASE REPORT; GENETICS; HETEROZYGOTE; LEUKOENCEPHALOPATHIES; NEURODEGENERATIVE DISEASES;

AGED; BASAL GANGLIA DISEASES; CALCINOSIS; EXONS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; NEURODEGENERATIVE DISEASES; PROTO-ONCOGENE PROTEINS C-SIS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE III;

EID: 84901438265     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-014-0265-z     Document Type: Article

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