Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Brain

Volumn 138, Issue 8, 2015, Pages 2191-2205

  Coutelier, Marie ^a,b,c,d,e,f   Goizet, Cyril ^g,h   Durr, Alexandra ^a,b,c,d,i   Habarou, Florence ^j,k   Morais, Sara ^{a,b,c,d,f,l,m,n}   Dionne Laporte, Alexandre ^o   Tao, Feifei ^p   Konop, Juliette ^a,b,c,d,f   Stoll, Marion ^q   Charles, Perrine ⁱ   Jacoupy, Maxime ^a,b,c,d   Matusiak, Raphaël ^a,b,c,d   Alonso, Isabel ^l,m,n   Tallaksen, Chantal ^a,b,c,d,y,z   Mairey, Mathilde ^a,b,c,d,f   Kennerson, Marina ^q   Gaussen, Marion ^a,b,c,d,f   Schule, Rebecca ^p,t,u   Janin, Maxime ^j,k   Morice Picard, Fanny ^g,h   Durand, Christelle M ^g   Depienne, Christel ^a,b,c,d,i   Calvas, Patrick ^v   Coutinho, Paula ^l,m,u   Saudubray, Jean Marie ⁱ   Rouleau, Guy ^o,x   Brice, Alexis ^a,b,c,d,i   Nicholson, Garth ^q,r,s   Darios, Frédéric ^a,b,c,d   Loureiro, José L ^l,w   Zuchner, Stephan ^p   Ottolenghi, Chris ^j,k   Mochel, Fanny ^a,b,c,d,i   Stevanin, Giovanni ^a,b,c,d,f,i   more..

^a INSERM   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^e DE DUVE INSTITUTE   (Belgium)

^f PSL RESEARCH UNIVERSITY   (France)

^g UNIVERSITÉ DE BORDEAUX   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

^l UNIVERSITY OF PORTO   (Portugal)

^m UNIVERSITY OF PORTO   (Portugal)

ⁿ UNIVERSITY OF PORTO   (Portugal)

^o MCGILL UNIVERSITY   (Canada)

^p UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^q ANZAC RESEARCH INSTITUTE   (Australia)

^r Department of Microbiology and Infectious Diseases   (Australia)

^s UNIVERSITY OF SYDNEY   (Australia)

^t UNIVERSITY OF TÜBINGEN   (Germany)

^u UNIVERSITY OF TÜBINGEN   (Germany)

^v CHU PURPAN   (France)

^w Centro Hospitalar de Entre o Douro e Vouga   (Portugal)

^x MCGILL UNIVERSITY   (Canada)

^y OSLO UNIVERSITY HOSPITAL   (Norway)

^z UNIVERSITY OF OSLO   (Norway)

more..

Author keywords

ALDH18A1; citrulline; delta 1 pyrroline 5 carboxylate synthase; hereditary spastic paraplegia; ornithine

Indexed keywords

ARGININE; CITRULLINE; DELTA1 PYRROLINE 5 CARBOXYLATE SYNTHASE; GLUTAMINE; ORNITHINE; PROLINE; SYNTHETASE; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; DELTA1-PYRROLINE-5-CARBOXYLATE SYNTHASE, HUMAN; GLUTAMIC ACID;

ADOLESCENT; ADULT; ALDH18A1 GENE; AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; EXOME; FEMALE; FIBROBLAST CULTURE; GENE; GENE MAPPING; GENE MUTATION; GENETIC MARKER; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; ION EXCHANGE CHROMATOGRAPHY; LINKAGE ANALYSIS; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE;

ADOLESCENT; ADULT; ALDEHYDE DEHYDROGENASE; ARGININE; FEMALE; GLUTAMIC ACID; HUMANS; MALE; MIDDLE AGED; MUTATION; ORNITHINE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84940092804     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv143     Document Type: Article

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