Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Human Molecular Genetics

Volumn 22, Issue 7, 2013, Pages 1417-1423

  Smith, Katherine R ^a,b   Dahl, Hans Henrik M ^b   Canafoglia, Laura ^c   Andermann, Eva ^d   Damiano, John ^b   Morbin, Michela ^c   Bruni, Amalia C ^e   Giaccone, Giorgio ^c   Cossette, Patrick ^f   Saftig, Paul ^g   Grötzinger, Joachim ^g   Schwake, Michael ^g   Andermann, Frederick ^d   Staropoli, John F ^h   Sims, Katherine B ^h   Mole, Sara E ^i,j   Franceschetti, Silvana ^c   Alexander, Noreen A ^k   Cooper, Jonathan D ^k   Chapman, Harold A ^l   Carpenter, Stirling ^m   Berkovic, Samuel F ^b   Bahlo, Melanie ^a,b   more..

^a WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d MCGILL UNIVERSITY   (Canada)

^e Lamezia Terme Azienda Sanitaria Provinciale   (Italy)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

^g UNIVERSITY OF KIEL   (Germany)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k KING'S COLLEGE LONDON   (United Kingdom)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m HOSPITAL DE SÃO JOÃO   (Portugal)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN F;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CHROMOSOME 11; COMPUTER MODEL; CONTROLLED STUDY; DEMENTIA; EPILEPSY; EXOME; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOUS MUTATION; HUMAN; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOUSE; MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; RECESSIVE INHERITANCE; TYPE B KUFS DISEASE;

ADULT; ANIMALS; ANTERIOR HORN CELLS; CASE-CONTROL STUDIES; CATHEPSIN F; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; LOD SCORE; MICE; MICE, KNOCKOUT; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, RNA;

EID: 84875264198     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds558     Document Type: Article

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