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: 1357C>T

PubMed Link: 37035729

Variant Present in the following documents:

• Main text
• 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: 1357C>T

PubMed Link: 33514739

Variant Present in the following documents:

• Main text

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 1357C>T; Gln453Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Chinese Medical Journal

Lin, Hui-Ting HT; Liu, Xiao X; Zhang, Wei W; Liu, Jing J; Zuo, Yue-Huan YH; Xiao, Jiang-Xi JX; Zhu, Ying Y; Yuan, Yun Y; Wang, Zhao-Xia ZX

Publication Date: 2018-06-20

Variant appearance in text: DMD: 1357C>T

PubMed Link: 29893365

Variant Present in the following documents:

• CMJ-131-1472.pdf

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Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Nucleus (Austin, Tex.)

Bernasconi, Pia P; Carboni, Nicola N; Ricci, Giulia G; Siciliano, Gabriele G; Politano, Luisa L; Maggi, Lorenzo L; Mongini, Tiziana T; Vercelli, Liliana L; Rodolico, Carmelo C; Biagini, Elena E; Boriani, Giuseppe G; Ruggiero, Lucia L; Santoro, Lucio L; Schena, Elisa E; Prencipe, Sabino S; Evangelisti, Camilla C; Pegoraro, Elena E; Morandi, Lucia L; Columbaro, Marta M; Lanzuolo, Chiara C; Sabatelli, Patrizia P; Cavalcante, Paola P; Cappelletti, Cristina C; Bonne, Gisèle G; Muchir, Antoine A; Lattanzi, Giovanna G

Publication Date: 2018-01-01

Variant appearance in text: DMD: 1357C>T

PubMed Link: 29693488

Variant Present in the following documents:

• Main text
• kncl-09-01-1467722.pdf

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