Publications:

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Journal Of Neurology, Neurosurgery, And Psychiatry

Shepheard, Stephanie R SR; Parker, Matthew D MD; Cooper-Knock, Johnathan J; Verber, Nick S NS; Tuddenham, Lee L; Heath, Paul P; Beauchamp, Nick N; Place, Elsie E; Sollars, Elizabeth S A ESA; Turner, Martin R MR; Malaspina, Andrea A; Fratta, Pietro P; Hewamadduma, Channa C; Jenkins, Thomas M TM; McDermott, Christopher J CJ; Wang, Dennis D; Kirby, Janine J; Shaw, Pamela J PJ; , ; ,

Publication Date: 2021-05

Variant appearance in text: TARDBP: Met405Val

PubMed Link: 33589474

Variant Present in the following documents:

• Main text
• jnnp-2020-325014.pdf

View BVdb publication page

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Journal Of Neurology, Neurosurgery, And Psychiatry

Shepheard, Stephanie R SR; Parker, Matthew D MD; Cooper-Knock, Johnathan J; Verber, Nick S NS; Tuddenham, Lee L; Heath, Paul P; Beauchamp, Nick N; Place, Elsie E; Sollars, Elizabeth S A ESA; Turner, Martin R MR; Malaspina, Andrea A; Fratta, Pietro P; Hewamadduma, Channa C; Jenkins, Thomas M TM; McDermott, Christopher J CJ; Wang, Dennis D; Kirby, Janine J; Shaw, Pamela J PJ; , ; ,

Publication Date: 2021-05

Variant appearance in text: TARDBP: Met405Val

PubMed Link: 33589474

Variant Present in the following documents:

• Main text
• jnnp-2020-325014.pdf

View BVdb publication page

Redox-mediated regulation of an evolutionarily conserved cross-β structure formed by the TDP43 low complexity domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lin, Yi Y; Zhou, Xiaoming X; Kato, Masato M; Liu, Daifei D; Ghaemmaghami, Sina S; Tu, Benjamin P BP; McKnight, Steven L SL

Publication Date: 2020-11-17

Variant appearance in text: TDP-43: M405V

PubMed Link: 33144500

Variant Present in the following documents:

• pnas.202012216.pdf

View BVdb publication page