Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: TTN: 95358C>G; Asn31786Lys
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
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: 95358C>G; N31786K