A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course

Pediatric Neurology

Volumn 40, Issue 2, 2009, Pages 134-137

  Åberg, Laura ^a   Lauronen, Leena ^a,b   Hämäläinen, Janne ^a   Mole, Sara E ^c   Autti, Taina ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BENZODIAZEPINE; LAMOTRIGINE; TIZANIDINE;

ADULT; ALLELE; ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; EPILEPSY; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE STIFFNESS; MYALGIA; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; PANIC; POLYNEUROPATHY; PRIORITY JOURNAL; QUALITY OF LIFE; SCHOOL CHILD; VISUAL FIELD DEFECT;

ADULT; CEREBELLAR DISEASES; COGNITION DISORDERS; DEAFNESS; DISEASE PROGRESSION; EPILEPSY; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETOENCEPHALOGRAPHY; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; POLYNEUROPATHIES;

EID: 58149218092     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.10.012     Document Type: Article

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