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International and National Collaboration Publications and projects within past five years.

Publications 2010 2018

  • 9 Article
  • 2 Meeting Abstract

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I. & Udd, B., Aug 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 441-448 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., Tasca, G., Ruggiero, L., Bello, L., Magri, F., Giugliano, T., Torella, A., Evilä, A., Di Fruscio, G., Vanakker, O., Gibertini, S., Vercelli, L., Ruggieri, A., Antozzi, C., Luque, H., Janssens, S., Pasanisi, M. B. & 21 others, Fiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., May 2018, In : JAMA neurology. 75, 5, p. 557-565 9 p.

Research output: Contribution to journalArticleScientificpeer-review

The 107 kD ANO5 protein is decreased in anoctaminopathy patients

Vihola, A., Luque, H., Savarese, M., Penttila, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I. & Udd, B., Oct 2017, In : Neuromuscular Disorders. 27, p. S144-S145 2 p.

Research output: Contribution to journalMeeting AbstractResearch

Complex processing of titin C-terminus by alternative cleavage of the is7 domain

Vihola, A., Luque, H., Jonson, P., Sarparanta, J. & Udd, B., Oct 2016, In : Neuromuscular Disorders. 26, p. S114-S114 1 p.

Research output: Contribution to journalMeeting AbstractResearch

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Charton, K., Sarparanta, J., Vihola, A., Milic, A., Jonson, P. H., Suel, L., Luque, H., Boumela, I., Richard, I. & Udd, B., 1 Jul 2015, In : Human Molecular Genetics. 24, 13, p. 3718-3731 14 p.

Research output: Contribution to journalArticleScientificpeer-review