A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

Human Mutation

Volumn 30, Issue 7, 2009, Pages 1104-1116

  Vantaggiato, Chiara ^a   Redaelli, Francesca ^a   Falcone, Sestina ^a   Perrotta, Cristiana ^b   Tonelli, Alessandra ^a   Bondioni, Sara ^a   Morbin, Michela ^c   Riva, Daria ^c   Saletti, Veronica ^c   Bonaglia, Maria C ^a   Giorda, Roberto ^a   Bresolin, Nereo ^a,d   Clementi, Emilio ^a,b   Bassi, Maria Teresa ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

CLN8; Neuronal cell death; Uniparental disomy

Indexed keywords

ANTICONVULSIVE AGENT; LAMOTRIGINE; MEMBRANE PROTEIN; PROTEIN CLN8; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; CASE REPORT; CELL DEATH; CELL MIGRATION; CHILD; CHROMOSOME 8; CONTROLLED STUDY; FOCAL EPILEPSY; GENE DELETION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCHOOL CHILD; UNIPARENTAL DISOMY;

CELL DIFFERENTIATION; CELL PROLIFERATION; CELL SURVIVAL; CELLS, CULTURED; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; PEDIGREE; SEQUENCE DELETION; TRANSFECTION;

EID: 67649672147     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21012     Document Type: Article

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