23176823 |
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
Kamsteeg, EJ,
Otte-Höller, I,
Geraghty, MT,
Ben-Salem, S,
Vermeer, S,
Humphreys, P,
Nobau, AC,
Schwartzentruber, J,
van de Vondervoort, II,
de Bot, ST,
Schuurs-Hoeijmakers, JH,
van der Graaf, M,
Smith, AC,
Nijhof, B
|
Am. J. Hum. Genet. |
2012 |
23176821 |
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
Tesson, C,
Yamashita, A,
Gaussen, M,
Nawara, M,
Elmalik, SA,
Zaki, MS,
Al Abdulkareem, I,
Al Drees, A,
Durr, A,
Benomar, A,
Darios, F,
Mochel, F,
Al Balwi, M,
Lechner, D,
Lacombe, D,
Schols, L,
Yahyaoui, M,
Goizet, C,
Depienne, C,
Esteves, T,
Oteyza, AC,
Gonzalez, M,
Salih, MA,
Lamari, F,
Monin, ML,
Obre, E,
Durand, CM,
Gyapay, G,
Gleeson, JG,
Kabiraj, MM,
Bouslam, N,
Schule, R,
Bouhouche, A,
Brice, A,
Zuchner, S,
El-Hachimi, KH,
Santorelli, FM,
Seidahmed, MZ,
Rossignol, R,
Lavie, J,
Stevanin, G,
Mignot, C
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Am. J. Hum. Genet. |
2012 |