Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

American Journal of Human Genetics

Volumn 82, Issue 4, 2008, Pages 992-1002

  Hanein, Sylvain ^a,b   Martin, Elodie ^a,b   Boukhris, Amir ^a,b,c,d   Byrne, Paula ^e   Goizet, Cyril ^a,b,f   Hamri, Abdelmadjid ^g   Benomar, Ali ^h   Lossos, Alexander ⁱ   Denora, Paola ^a,b,j   Fernandez, José ^a,b   Elleuch, Nizar ^d   Forlani, Sylvie ^a,b   Durr, Alexandra ^a,b,c   Feki, Imed ^d   Hutchinson, Michael ^e   Santorelli, Filippo M ^j   Mhiri, Chokri ^d   Brice, Alexis ^a,b,c   Stevanin, Giovanni ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HABIB BOURGUIBA HOSPITAL   (Tunisia)

^e UNIVERSITY COLLEGE DUBLIN   (Ireland)

^f UNIVERSITÉ DE BORDEAUX   (France)

^g Centre Hospitalo Universitaire Dr Benbadis Constantine   (Algeria)

^h IBN SINA HOSPITAL   (Morocco)

ⁱ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA; MOLECULAR MARKER; SPASTIZIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 14Q; CLINICAL FEATURE; CONTROLLED STUDY; DYSARTHRIA; EMBRYO; EMBRYO DEVELOPMENT; ENDOPLASMIC RETICULUM; ENDOSOME; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; INHERITANCE; INTRACELLULAR TRANSPORT; KJELLIN SYNDROME; MALE; MENTAL DEFICIENCY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; RARE DISEASE; RAT; RETINA MACULOPATHY; RODENT; SCHOOL CHILD; SPG11 GENE; SPG15 GENE; ZFYVE26 GENE;

RATTUS; RODENTIA;

EID: 41549153666     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.03.004     Document Type: Article

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