20142019
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International and National Collaboration Publications and projects within past five years.

Publications 2016 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

A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

Brusa, R., Magri, F., Papadimitriou, D., Govoni, A., Del Bo, R., Ciscato, P., Savarese, M., Cinnante, C., Walter, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V. & Comi, G. P., Jun 2018, In : Neuromuscular Disorders. 28, 6, p. 532-537 6 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Open Access
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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Italian CMD Network, 26 Sep 2018, In : Orphanet journal of rare diseases. 13, 9 p., 170.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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

Projects 2014 2014