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9. DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes. Hoang HT; Schlager MA; Carter AP; Bullock SL Proc Natl Acad Sci U S A; 2017 Feb; 114(9):E1597-E1606. PubMed ID: 28196890 [TBL] [Abstract][Full Text] [Related]
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11. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Tsurusaki Y; Saitoh S; Tomizawa K; Sudo A; Asahina N; Shiraishi H; Ito J; Tanaka H; Doi H; Saitsu H; Miyake N; Matsumoto N Neurogenetics; 2012 Nov; 13(4):327-32. PubMed ID: 22847149 [TBL] [Abstract][Full Text] [Related]
12. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Strickland AV; Schabhüttl M; Offenbacher H; Synofzik M; Hauser NS; Brunner-Krainz M; Gruber-Sedlmayr U; Moore SA; Windhager R; Bender B; Harms M; Klebe S; Young P; Kennerson M; Garcia AS; Gonzalez MA; Züchner S; Schule R; Shy ME; Auer-Grumbach M J Neurol; 2015 Sep; 262(9):2124-34. PubMed ID: 26100331 [TBL] [Abstract][Full Text] [Related]
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19. Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. Chen Y; Xu Y; Li G; Li N; Yu T; Yao RE; Wang X; Shen Y; Wang J J Child Neurol; 2017 Mar; 32(4):379-386. PubMed ID: 28193117 [TBL] [Abstract][Full Text] [Related]
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