Publications:

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

Publication Date: 2022-03

Variant appearance in text: TUBA1A: 978A>T; Lys326Asn

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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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: 978A>T; Lys326Asn

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Journal Of Developmental Biology

Aiken, Jayne J; Buscaglia, Georgia G; Bates, Emily A EA; Moore, Jeffrey K JK

Publication Date: 2017-09

Variant appearance in text: TUBA1A: K326N

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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