| 1 | PEBAT, TBCD
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| Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
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| Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N.
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| Am J Hum Genet 99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005.
2016
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| 2 | PEBAT, TBCD
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| Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
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| Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M.
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| Am J Hum Genet 99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003.
2016
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| 3 | PEBAT, TBCD
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| Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: Further delineation of a new chaperone-mediated tubulinopathy.
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| Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A.
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| Clin Genet lin Genet. 2016 Nov 2. doi: 10.1111/cge.12914. [Epub ahead of print]
2016
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| 4 | PEBAT, TBCD
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| Infantile Neurodegenerative Disorder Associated with Mutations in TBCD, an Essential Gene in the Tubulin Heterodimer Assembly Pathway.
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| Edvardson S, Tian G, Cullen H, Vanyai H, Ngo L, Bhat S, Aran A, Daana M, Da'amseh N, Abu-Libdeh B, Cowan NJ, Heng J, Elpeleg O.
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| Hum Mol Genet um Mol Genet. 2016 Aug 29. pii: ddw292. [Epub ahead of print]
2016
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