Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Neurogenetics

Volumn 6, Issue 3, 2005, Pages 107-126

  Mole, Sara E ^a   Williams, Ruth E ^b   Goebel, Hans H ^c,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d Medical Experimental Center   (Germany)

Author keywords

Batten disease; Genotype; Morphology; Neuronal ceroid lipofuscinoses; Phenotype

Indexed keywords

LIPID; PIGMENT;

ADULT DISEASE; AMINO ACID SYNTHESIS; CELL ULTRASTRUCTURE; CHILDHOOD DISEASE; CLN1 GENE; CLN2 GENE; CLN3 GENE; CLN5 GENE; CLN6 GENE; CLN8 GENE; CONSANGUINITY; DEGENERATIVE DISEASE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; EXPERIMENTAL MODEL; EXPERIMENTAL MOUSE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC DATABASE; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT DISEASE; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; ONSET AGE; PATHOPHYSIOLOGY; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PROTEIN SYNTHESIS; REVIEW; SHEEP;

CHROMOSOME MAPPING; ENDOPEPTIDASES; GENOTYPE; HUMANS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MOLECULAR CHAPERONES; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE;

ANIMALIA; OVIS ARIES;

EID: 25844517550     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-005-0218-3     Document Type: Review

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