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5. Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. Fiorillo C; Moro F; Yi J; Weil S; Brisca G; Astrea G; Severino M; Romano A; Battini R; Rossi A; Minetti C; Bruno C; Santorelli FM; Vallee R Hum Mutat; 2014 Mar; 35(3):298-302. PubMed ID: 24307404 [TBL] [Abstract][Full Text] [Related]
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11. A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. Viollet LM; Swoboda KJ; Mao R; Best H; Ha Y; Toutain A; Guyant-Marechal L; Laroche-Raynaud C; Ghorab K; Barthez MA; Pedespan JM; Hernandorena X; Lia AS; Deleuze JF; Masson C; Nelson I; Nectoux J; Si Y Eur J Med Genet; 2020 Dec; 63(12):104063. PubMed ID: 32947049 [TBL] [Abstract][Full Text] [Related]
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