Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 118-123

  Boukhris, Amir ^a,b,c   Schule, Rebecca ^d   Loureiro, José L ^e   Lourenço, Charles Marques ^f   Mundwiller, Emeline ^c,g   Gonzalez, Michael A ^h   Charles, Perrine ^g   Gauthier, Julie ⁱ   Rekik, Imen ^a,c   Acosta Lebrigio, Rafael F ^h   Gaussen, Marion ^c,g,j,k   Speziani, Fiorella ^h   Ferbert, Andreas ^l   Feki, Imed ^a,b   Caballero Oteyza, Andrés ^d   Dionne Laporte, Alexandre ⁱ   Amri, Mohamed ^a,b   Noreau, Anne ⁱ   Forlani, Sylvie ^c,g,j,k   Cruz, Vitor T ^e   Mochel, Fanny ^c,g,j,k   Coutinho, Paula ^e   Dion, Patrick ^i,m   Mhiri, Chokri ^e   Schols, Ludger ^a,b   Pouget, Jean ^d,n   Darios, Frédéric ^o   Rouleau, Guy A ^c,j,k   Marques, Wilson ⁱ   Brice, Alexis ^f   Durr, Alexandra ^c,g,j,k   Zuchner, Stephan ^h   Stevanin, Giovanni ^c,g,j,k   more..

^a HABIB BOURGUIBA HOSPITAL   (Tunisia)

^b UNIVERSITY OF SFAX   (Tunisia)

^c INSERM   (France)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY OF PORTO   (Portugal)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

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

ⁱ MCGILL UNIVERSITY   (Canada)

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

^k CNRS   (France)

^l KLINIKUM KASSEL   (Germany)

^m UNIVERSITY OF MONTREAL   (Canada)

ⁿ GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^o TIMONE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA 1, N ACETYL GALACTOSAMINYL TRANSFERASE 1; GANGLIOSIDE; HEAT SHOCK PROTEIN; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CEREBELLAR ATAXIA; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; INTELLECTUAL IMPAIRMENT; LIPID METABOLISM; LIPOGENESIS; NEUROLOGIC DISEASE; PERIPHERAL NEUROPATHY; PORTUGAL; PRIORITY JOURNAL; SPAIN; SPASTIC PARAPLEGIA; TUNISIA;

EID: 84880305974     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.006     Document Type: Article

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