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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

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2

TITLE: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
AUTHORS: Guntram Borck; Friederike Hog; Maria Lisa Dentici; Perciliz L Tan; Nadine Sowada; Ana Medeira; Lucie Gueneau; Holger Thiele; Maria Kousi; Francesca Lepri; Larissa Wenzeck; Ian Blumenthal; Antonio Radicioni; Tito Livio Schwarzenberg; Barbara Mandriani; Rita Fischetto; Deborah J Morris Rosendahl; Janine Altmuller; Alexandre Reymond; Peter Nurnberg; Giuseppe Merla; Bruno Dallapiccola; Nicholas Katsanis; Patrick Cramer; Christian Kubisch; ...More
PUBLISHED: 2015, SOURCE: GENOME RESEARCH, VOLUME: 25, ISSUE: 2

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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

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