✦ LIBER ✦

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

✍ Scribed by Harms, M. B.; Ori-McKenney, K. M.; Scoto, M.; Tuck, E. P.; Bell, S.; Ma, D.; Masi, S.; Allred, P.; Al-Lozi, M.; Reilly, M. M.; Miller, L. J.; Jani-Acsadi, A.; Pestronk, A.; Shy, M. E.; Muntoni, F.; Vallee, R. B.; Baloh, R. H.

Book ID: 111860470
Publisher: Lippincott Williams and Wilkins
Year: 2012
Tongue: English
Weight: 758 KB
Volume: 78
Category: Article
ISSN: 0028-3878
DOI: 10.1212/wnl.0b013e3182556c05

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

ADYNC1H1mutation causes a dominant spina

ADYNC1H1mutation causes a dominant spinal muscular atrophy with lower extremity predominance

✍ Y. Tsurusaki; S. Saitoh; K. Tomizawa; A. Sudo; N. Asahina; H. Shiraishi; J. Ito; 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 388 KB

Novel Dynein DYNC1H1 Neck and Motor Doma

Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

✍ Fiorillo, Chiara; Moro, Francesca; Yi, Julie; Weil, Sarah; Brisca, Giacomo; Astr 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 587 KB

DYNC1H1 mutation alters transport kineti

DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy

✍ Garrett, C. A.; Barri, M.; Kuta, A.; Soura, V.; Deng, W.; Fisher, E. M. C.; Schi 📂 Article 📅 2014 🏛 Oxford University Press 🌐 English ⚖ 698 KB

Phenotypic characterization of the spina

Phenotypic characterization of the spinal muscular atrophy with progressive myoclonus epilepsy syndrome caused by ASAH1 mutations

✍ Sathe, Swati; Pearson, Toni 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 45 KB

P.6.7 Wide phenotypic spectrum of SMA wi

P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

✍ Scoto, M.; Rossor, A.; Harms, M.B.; Calissano, M.; Cirak, S.; Foley, A.R.; Sewry 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Clinical and mutational characteristics

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

✍ Stalpers, Xenia L.; Verrips, Aad; Poll-The, Bwee Tien; Cobben, Jan-Maarten; Snoe 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 237 KB