Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes. by Wiethoff, S, Zhour, A, Schöls, L, Fischer, M

Retinal nerve fiber layer loss in multiple system atrophy. by Fischer, M, Synofzik, M, Heidlauf, R, Schicks, J, Srulijes, K, Kernstock, C, Berg, D, Schöls, L, Schiefer, U

Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy. by Fischer, M, Synofzik, M, Kernstock, C, Dietzsch, J, Heidlauf, R, Schicks, J, Srulijes, K, Wiethoff, S, Menn, O, Berg, D, Schöls, L, Schiefer, U

Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy by Fischer, M, Synofzik, M, Kernstock, C, Dietzsch, J, Heidlauf, R, Schicks, J, Srulijes, K, Wiethoff, S, Menn, O, Berg, D, Schöls, L, Schiefer, U

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. by Moreira, M, Klur, S, Watanabe, M, Németh, A, Le Ber, I, Moniz, J, Tranchant, C, Aubourg, P, Tazir, M, Schöls, L, Pandolfo, M, Schulz, J, Pouget, J, Calvas, P, Shizuka-Ikeda, M, Shoji, M, Tanaka, M, Izatt, L, Shaw, C, M'Zahem, A, Dunne, E, Bomont, P, Benhassine, T, Bouslam, N, Stevanin, G

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Genomics England Research Consortium, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H