S. Penttila
AuthID: R-00G-GWR
1
TITLE: Expanding the importance of HMERF titinopathy: new mutations and clinical aspects Full Text
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 266, ISSUE: 3
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 266, ISSUE: 3
INDEXED IN: Scopus WOS
2
TITLE: Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity Full Text
AUTHORS: 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;
PUBLISHED: 2013, SOURCE: 18th International Congress of the World-Muscle-Society (WMS) in NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 9-10
AUTHORS: 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;
PUBLISHED: 2013, SOURCE: 18th International Congress of the World-Muscle-Society (WMS) in NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 9-10
INDEXED IN: WOS CrossRef