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

Publications 2001 2019

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Savarese, M., Palmio, J., Poza, J. J., Weinberg, J., Olive, M., Cobo, A. M., Vihola, A., Jonson, P. H., Sarparanta, J., Garcia-Bragado, F., Urtizberea, J. A., Hackman, P. & Udd, B., Jun 2019, In : Annals of Neurology. 85, 6, p. 899-906 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Kiiski, K. J., Lehtokari, V-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C. & Udd, B., Feb 2019, In : Neuromuscular Disorders. 29, 2, p. 97-107 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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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 othersFiorillo, 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

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Genin, E. C., Bannwarth, S., Lespinasse, F., Ortega-Vila, B., Fragaki, K., Itoh, K., Villa, E., Lacas-Gervais, S., Jokela, M., Auranen, M., Ylikallio, E., Mauri-Crouzet, A., Tyynismaa, H., Vihola, A., Auge, G., Cochaud, C., Sesaki, H., Ricci, J-E., Udd, B., Vives-Bauza, C. & 1 othersPaquis-Flucklinger, V., Nov 2018, In : Neurobiology of Disease. 119, p. 159-171 13 p.

Research output: Contribution to journalArticleScientificpeer-review