ELOVL5 mutations cause spinocerebellar ataxia 38

American Journal of Human Genetics

Volumn 95, Issue 2, 2014, Pages 209-217

  Di Gregorio, Eleonora ^a,b   Borroni, Barbara ^c   Giorgio, Elisa ^a   Lacerenza, Daniela ^a   Ferrero, Marta ^a   Lo Buono, Nicola ^a   Ragusa, Neftj ^a   Mancini, Cecilia ^a   Gaussen, Marion ^d,e,f,g   Calcia, Alessandro ^a   Mitro, Nico ^h   Hoxha, Eriola ⁱ   Mura, Isabella ^j   Coviello, Domenico A ^j   Moon, Young Ah ^k   Tesson, Christelle ^d,e,f,g   Vaula, Giovanna ^b   Couarch, Philippe ^d,e,f   Orsi, Laura ^b   Duregon, Eleonora ⁱ   Papotti, Mauro Giulio ⁱ   Deleuze, Jean François ^l   Imbert, Jean ^m   Costanzi, Chiara ^c   Padovani, Alessandro ^c   Giunti, Paola ⁿ   Maillet Vioud, Marcel ^o   Durr, Alexandra ^d,e,f,p   Brice, Alexis ^d,e,f,p   Tempia, Filippo ⁱ   Funaro, Ada ^a   Boccone, Loredana ^q   Caruso, Donatella ⁱ   Stevanin, Giovanni ^d,e,f,g,p   Brusco, Alfredo ^a,b   more..

^a UNIVERSITY OF TURIN   (Italy)

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

^c UNIVERSITY OF BRESCIA   (Italy)

^d INSERM   (France)

^e CNRS   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g PSL RESEARCH UNIVERSITY   (France)

^h UNIVERSITY OF MILAN   (Italy)

ⁱ UNIVERSITY OF TURIN   (Italy)

^j GALLIERA HOSPITAL   (Italy)

^k UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^l CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^m Aix Marseille university   (France)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o Centre Hospitalier General de Montlucon   (France)

^p ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^q Osp Regionale per le Microcitemie   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLTRANSFERASES; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANIMALS; ARACHIDONIC ACID; CEREBELLUM; DOCOSAHEXAENOIC ACIDS; ENDOPLASMIC RETICULUM; FEMALE; GENETIC LINKAGE; GENOTYPE; GOLGI APPARATUS; HAPLOTYPES; HUMANS; ITALY; LIPID METABOLISM; MALE; MICE; MIDDLE AGED; MUTATION; PEDIGREE; PURKINJE CELLS; SPINOCEREBELLAR ATAXIAS;

EID: 84905916269     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.07.001     Document Type: Article

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