Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Biochemical and Biophysical Research Communications

Volumn 379, Issue 4, 2009, Pages 892-897

  Cannelli, Natalia ^a   Garavaglia, Barbara ^b   Simonati, Alessandro ^c   Aiello, Chiara ^a   Barzaghi, Chiara ^b   Pezzini, Francesco ^c   Cilio, Maria Roberta ^a   Biancheri, Roberta ^d   Morbin, Michela ^b   Bernardina, Bernardo Dalla ^c   Granata, Tiziana ^b   Tessa, Alessandra ^a   Invernizzi, Federica ^b   Pessagno, Alice ^d   Boldrini, Renata ^a   Zibordi, Federica ^b   Grazian, Luisa ^e   Claps, Dianela ^a   Carrozzo, Rosalba ^a   Mole, Sara E ^f   Nardocci, Nardo ^b   Santorelli, Filippo M ^a   more..

^a Molecular Medicine   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Child and Biology Child Neurology and Psychiatry   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e CA FONCELLO HOSPITAL   (Italy)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Autophagy; CLN6; Mutation scanning; v LINCL

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOPHAGY; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; ULTRASTRUCTURE;

ADOLESCENT; AUTOPHAGY; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; LYSOSOMES; MALE; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; YOUNG ADULT;

EID: 59249084963     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.12.159     Document Type: Article

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