Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

European Journal of Neurology

Volumn 14, Issue 4, 2007, Pages 369-372

  Kalviainen R ^a   Eriksson, K ^b,c   Losekoot, M ^d   Sorri, I ^a   Harvima, I ^a   Santavuori, P ^e   Jarvela I ^f   Autti, T ^f   Vanninen, R ^a   Salmenpera T ^a   Van Diggelen, O P ^g  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

CLN1; Juvenile onset neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase

Indexed keywords

GENE PRODUCT; PALMITOYL PROTEIN THIOESTERASE; PROTEIN CLN1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; COLOR VISION; DELUSION; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GLOBUS PALLIDUS; HETEROZYGOTE; HUMAN; MEMORY DISORDER; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; THALAMUS; VISUAL ACUITY;

ADOLESCENT; ADULT; BRAIN; CHILD; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; THIOLESTER HYDROLASES;

EID: 33947608377     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01668.x     Document Type: Article

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