Value of systematic genetic screening of patients with amyotrophic lateral sclerosis by Shepheard, SR, Parker, MD, Cooper-Knock, J, Verber, NS, Tuddenham, L, Heath, PR, Beauchamp, N, Place, E, Sollars, ESA, Project MinE ALS Sequencing Consortium, Turner, M, Malaspina, A, Fratta, P, Hewamadduma, C, Jenkins, TM, McDermott, CJ, Wang, D, Kirby, J, Shaw, PJ

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