Publications:

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics

Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O

Publication Date: 2023

Variant appearance in text: DMD: 116A>G

PubMed Link: 37035729

Variant Present in the following documents:

• fgene-14-1135438.pdf

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The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization.

Nature Communications

Ramirez-Martinez, Andres A; Zhang, Yichi Y; Chen, Kenian K; Kim, Jiwoong J; Cenik, Bercin K BK; McAnally, John R JR; Cai, Chunyu C; Shelton, John M JM; Huang, Jian J; Brennan, Ana A; Evers, Bret M BM; Mammen, Pradeep P A PPA; Xu, Lin L; Bassel-Duby, Rhonda R; Liu, Ning N; Olson, Eric N EN

Publication Date: 2021-01-29

Variant appearance in text: DMD: Asn39Ser

PubMed Link: 33514739

Variant Present in the following documents:

• Main text

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: N39S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Human Genome Variation

Ishiyama, Akihiko A; Iida, Aritoshi A; Hayashi, Shinichiro S; Komaki, Hirofumi H; Sasaki, Masayuki M; Nonaka, Ikuya I; Noguchi, Satoru S; Nishino, Ichizo I

Publication Date: 2018

Variant appearance in text: DMD: Asn39Ser

PubMed Link: 30083363

Variant Present in the following documents:

• Main text
• 41439_2018_Article_18.pdf

View BVdb publication page