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TÃTULO: Expanding the importance of HMERF titinopathy: new mutations and clinical aspects Full Text
AUTORES: Johanna Palmio; Sarah Leonard Louis; Sabrina Sacconi; Marco Savarese; Sini Penttila; Anna Lena Semmler; Wolfram Kress; Tahseen Mozaffar; Tim Lai; Tanya Stojkovic; Andres Berardo; Ricardo Reisin; Shahram Attarian; Andoni Urtizberea; Ana Maria Cobo; Lorenzo Maggi; Sergei Kurbatov; Sergei Nikitin; Jose C Milisenda; Farzad Fatehi; Monika Raimondi; Fernando Silveira; Peter Hackman; Kristl G Claeys; Bjarne Udd; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF NEUROLOGY, VOLUME: 266, NÚMERO: 3

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TÃTULO: Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity Full Text
AUTORES: Evila, A; Vihola, A; Sarparanta, J; Raheem, O; Sandell, S; Eymard, B; Illa, I; Rojas Garcia, R; Hankiewicz, K; Negrao, L; Lopponen, T; Nokelainen, P; Karppa, M; Penttila, S; Screen, M; Suominen, T; Richard, I; Hackman, P; Udd, B;
PUBLICAÇÃO: 2013, FONTE: 18th International Congress of the World-Muscle-Society (WMS) in NEUROMUSCULAR DISORDERS, VOLUME: 23, NÚMERO: 9-10

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