Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

European Journal of Paediatric Neurology

Volumn 10, Issue 3, 2006, Pages 154-156

  Bonsignore, Maria ^a   Tessa, Alessandra ^b   Di Rosa, Gabriella ^a,b   Piemonte, Fiorella ^b   Dionisi Vici, Carlo ^b   Simonati, Alessandro ^c   Calamoneri, Filippo ^a   Tortorella, Gaetano ^a   Santorelli, Filippo M ^b  

^a Department of Medical and Surgical Pediatrics   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

CLN1; GRODs; LINCL; Novel mutation

Indexed keywords

CARBAMAZEPINE; CYSTEINE; DNA BASE; GENE PRODUCT; PALMITIC ACID; PALMITOYL PROTEIN THIOESTERASE; PHENOBARBITAL; PROTEIN CLN1; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BLINDNESS; BRAIN ATROPHY; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DYSPHAGIA; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ETHNOLOGY; EXON; FAMILY STUDY; FEMALE; FOLLOW UP; GENETIC VARIABILITY; GRAND MAL SEIZURE; HOSPITAL ADMISSION; HUMAN; ITALY; LANGUAGE DISABILITY; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PSYCHOMOTOR DISORDER; PYRAMIDAL SIGN; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SKIN BIOPSY; SOUTHERN EUROPE; SPASTICITY; VISUAL IMPAIRMENT; WALKING DIFFICULTY;

EID: 33745894360     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.04.002     Document Type: Article

References (5)

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