Publications:

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: rs146504767

PubMed Link: 30611313

Variant Present in the following documents:

• 40478_2018_655_MOESM1_ESM.xlsx, sheet 1
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

Familial aortic disease and a large duplication in chromosome 16p13.1.

Molecular Genetics & Genomic Medicine

Erhart, Philipp P; Brandt, Tobias T; Straub, Beate K BK; Hausser, Ingrid I; Hentze, Sabine S; Böckler, Dittmar D; Grond-Ginsbach, Caspar C

Publication Date: 2018-05

Variant appearance in text: rs146504767

PubMed Link: 29441698

Variant Present in the following documents:

• Main text

View BVdb publication page