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: 118A>C

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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α-TubK40me3 is required for neuronal polarization and migration by promoting microtubule formation.

Nature Communications

Xie, Xuan X; Wang, Shaogang S; Li, Mingyi M; Diao, Lei L; Pan, Xingyu X; Chen, Jijun J; Zou, Weiguo W; Zhang, Xu X; Feng, Wenfeng W; Bao, Lan L

Publication Date: 2021-07-05

Variant appearance in text: TUBA1A: K40Q

PubMed Link: 34226540

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24376.pdf

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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: 118A>C; Lys40Gln

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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Effects of mutating α-tubulin lysine 40 on sensory dendrite development.

Journal Of Cell Science

Jenkins, Brian V BV; Saunders, Harriet A J HAJ; Record, Helena L HL; Johnson-Schlitz, Dena M DM; Wildonger, Jill J

Publication Date: 2017-12-15

Variant appearance in text: TUBA1A: K40Q

PubMed Link: 29122984

Variant Present in the following documents:

• Main text

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