Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

Journal of Neurology

Volumn 262, Issue 1, 2015, Pages 173-178

  Mancini, Cecilia ^a   Nassani, Stefano ^b   Guo, Yiran ^c   Chen, Yulan ^d   Giorgio, Elisa ^a   Brussino, Alessandro ^a   Di Gregorio, Eleonora ^e   Cavalieri, Simona ^e   Lo Buono, Nicola ^a   Funaro, Ada ^a   Pizio, Nicola Renato ^b   Nmezi, Bruce ^f   Kyttala, Aija ^g   Santorelli, Filippo Maria ^h   Padiath, Quasar Salem ^f   Hakonarson, Hakon ^c,i   Zhang, Hao ^d   Brusco, Alfredo ^a,e  

^a UNIVERSITY OF TURIN   (Italy)

^b Lavagna Hospital   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d BGI SHENZHEN   (China)

^e CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^h DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Ceroid lipofuscinosis; CLN5; Hereditary ataxias; SCAR

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEROID NEURONAL LIPOFUSCINOSIS TYPE 5; COGNITIVE DEFECT; DISEASE ASSOCIATION; DYSARTHRIA; FEMALE; GENE; GENE MUTATION; GLAUCOMA; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; VISUAL IMPAIRMENT; WALKING DIFFICULTY; CONSANGUINITY; GENETICS; ITALY; MALE; MIDDLE AGED; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY;

CLN5 PROTEIN, HUMAN; MEMBRANE PROTEIN;

AGE OF ONSET; CEREBELLAR ATAXIA; CONSANGUINITY; FEMALE; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SIBLINGS;

EID: 84930178220     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7553-y     Document Type: Article

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