Ruestem Yilmaz


AuthID: R-00G-VHZ

Publicações a aguardarem confirmação

1
TITLE: Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations  Full Text
AUTHORS: Brenner, D; Rosenbohm, A; Yilmaz, R; Müller, K; Grehl, T; Petri, S; Meyer, T; Grosskreutz, J; Weydt, P; Ruf, W; Neuwirth, C; Weber, M; Pinto, S; Claeys, KG; Schrank, B; Jordan, B; Knehr, A; Günther, K; Hübers, A; Zeller, D; Kubisch, C; Jablonka, S; Sendtner, M; Klopstock, T; de Carvalho, M; Sperfeld, A; Borck, G; Volk, AE; Dorst, J; Weis, J; Otto, M; Schuster, J; Del Tredici, K; Braak, H; Danzer, KM; Freischmidt, A; Meitinger, T; Ludolph, AC; Andersen, PM; Weishaupt, JH; ...More
PUBLISHED: 2019, SOURCE: BRAIN, VOLUME: 142, ISSUE: 12
INDEXED IN: Scopus WOS
2
TITLE: Hot-spot KIF5A mutations cause familial ALS  Full Text
AUTHORS: Brenner, D; Yilmaz, R; Müller, K; Grehl, T; Petri, S; Meyer, T; Grosskreutz, J; Weydt, P; Ruf, W; Neuwirth, C; Weber, M; Pinto, S ; Claeys, KG; Schrank, B; Jordan, B; Knehr, A; Günther, K; Hübers, A; Zeller, D; Kubisch, C; Jablonka, S; Sendtner, M; Klopstock, T; De Carvalho, M; Sperfeld, A; Borck, G; Volk, AE; Dorst, J; Weis, J; Otto, M; Schuster, J; Del Tredici, K; Braak, H; Danzer, KM; Freischmidt, A; Meitinger, T; Strom, TM; Ludolph, AC; Andersen, PM; Weishaupt, JH; Weyen, U; Hermann, A; Hagenacker, T; Koch, JC; Lingor, P; Göricke, B; Zierz, S; Baum, P; Wolf, J; Winkler, A; Young, P; Bogdahn, U; Prudlo, J; Kassubek, J; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 3
INDEXED IN: Scopus WOS
3
TITLE: A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing  Full Text
AUTHORS: Ruestem Yilmaz; Ana Beleza Meireles; Susan Price; Renata Oliveira; Christian Kubisch; Jill Clayton Smith; Katalin Szakszon; Guntram Borck;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef

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