Publications:

A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Internal Medicine (Tokyo, Japan)

Sano, Yasuteru Y; Ota, Satoko S; Oishi, Mariko M; Honda, Masaya M; Omoto, Masatoshi M; Kawai, Motoharu M; Okubo, Mariko M; Nishino, Ichizo I; Kanda, Takashi T

Publication Date: 2022-05-15

Variant appearance in text: TTN: G31791D

PubMed Link: 34670883

Variant Present in the following documents:

• Main text
• 1349-7235-61-1587.pdf

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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: Gly31791Asp

PubMed Link: 33449170

Variant Present in the following documents:

• Main text
• 401_2020_Article_2257.pdf

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes

Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P

Publication Date: 2020-05-11

Variant appearance in text: TTN: 95372G>A; Gly31791Asp

PubMed Link: 32403337

Variant Present in the following documents:

• genes-11-00539-s001.pdf

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Journal Of Neurology

Palmio, Johanna J; Leonard-Louis, Sarah S; Sacconi, Sabrina S; Savarese, Marco M; Penttilä, Sini S; Semmler, Anna-Lena AL; Kress, Wolfram W; Mozaffar, Tahseen T; Lai, Tim T; Stojkovic, Tanya T; Berardo, Andres A; Reisin, Ricardo R; Attarian, Shahram S; Urtizberea, Andoni A; Cobo, Ana Maria AM; Maggi, Lorenzo L; Kurbatov, Sergei S; Nikitin, Sergei S; Milisenda, José C JC; Fatehi, Farzad F; Raimondi, Monika M; Silveira, Fernando F; Hackman, Peter P; Claeys, Kristl G KG; Udd, Bjarne B

Publication Date: 2019-03

Variant appearance in text: TTN: 95372G>A; G31791D

PubMed Link: 30666435

Variant Present in the following documents:

• Main text
• 415_2019_Article_9187.pdf

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Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases

Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P

Publication Date: 2016-08-30

Variant appearance in text: TTN: 95372G>A

PubMed Link: 27854229

Variant Present in the following documents:

• Main text
• jnd-3-jnd160158.pdf

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