Publications:

Making sense of missense variants in TTN-related congenital myopathies.

Acta Neuropathologica

Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M

Publication Date: 2021-03

Variant appearance in text: TTN: 102058delA

PubMed Link: 33449170

Variant Present in the following documents:

• Main text
• 401_2020_Article_2257.pdf

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Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Frontiers In Physiology

Desai, Darshini D; Stiene, Danielle D; Song, Taejeong T; Sadayappan, Sakthivel S

Publication Date: 2020

Variant appearance in text: TTN: Asn34020Thrfs

PubMed Link: 32670090

Variant Present in the following documents:

• Main text
• fphys-11-00689.pdf

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: LGMD2J: N34020TfsX9

PubMed Link: 25961035

Variant Present in the following documents:

• Main text
• BMRI2015-714197.pdf

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