Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Redefining the Etiologic Landscape of Cerebellar Malformations.
American Journal Of Human Genetics
Aldinger, Kimberly A KA; Timms, Andrew E AE; Thomson, Zachary Z; Mirzaa, Ghayda M GM; Bennett, James T JT; Rosenberg, Alexander B AB; Roco, Charles M CM; Hirano, Matthew M; Abidi, Fatima F; Haldipur, Parthiv P; Cheng, Chi V CV; Collins, Sarah S; Park, Kaylee K; Zeiger, Jordan J; Overmann, Lynne M LM; Alkuraya, Fowzan S FS; Biesecker, Leslie G LG; Braddock, Stephen R SR; Cathey, Sara S; Cho, Megan T MT; Chung, Brian H Y BHY; Everman, David B DB; Zarate, Yuri A YA; Jones, Julie R JR; Schwartz, Charles E CE; Goldstein, Amy A; Hopkin, Robert J RJ; Krantz, Ian D ID; Ladda, Roger L RL; Leppig, Kathleen A KA; McGillivray, Barbara C BC; Sell, Susan S; Wusik, Katherine K; Gleeson, Joseph G JG; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Gerrelli, Dianne D; Lisgo, Steven N SN; Seelig, Georg G; Ishak, Gisele E GE; Barkovich, A James AJ; Curry, Cynthia J CJ; Glass, Ian A IA; Millen, Kathleen J KJ; Doherty, Dan D; Dobyns, William B WB
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Orphanet Journal Of Rare Diseases
Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B
Publication Date: 2019-02-11
Variant appearance in text: TUBA1A: 296C>A; Ala99Asp