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Fingerprint Dive into the research topics where Raffaella Violano is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Congenital Structural Myopathies Medicine & Life Sciences
Glycogen Storage Disease Type III Medicine & Life Sciences
Inclusion Body Myositis Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Glycogen Storage Disease Type II Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Protein-Restricted Diet Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Research Output 2016 2019

  • 51 Citations
  • 3 h-Index
  • 6 Article

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

Morin, G., Biancalana, V., Echaniz-Laguna, A., Noury, J. B., Lornage, X., Moggio, M., Ripolone, M., Violano, R., Marcorelles, P., Maréchal, D., Renaud, F., Maurage, C. A., Tard, C., Cuisset, J. M., Laporte, J. & Böhm, J., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Genetic Association Studies
Mutation
Miosis
Ichthyosis
6 Citations (Scopus)

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Simona, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M. & 4 others, Sciacco, M., Toscano, A., Comi, G. P. & Moggio, M., 2018, In : Neuropathology and Applied Neurobiology. 44, 5, p. 449-462

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Skeletal Muscle
Muscles
Biopsy

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Pagliarani, S., Lucchiari, S., Ulzi, G., Ripolone, M., Violano, R., Fortunato, F., Bordoni, A., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3407-3417

Research output: Contribution to journalArticle

Glycogen Storage Disease Type III
Protein-Restricted Diet
Hepatomegaly
Exercise
Glucose
26 Citations (Scopus)

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Böhm, J., Bulla, M., Urquhart, J. E., Malfatti, E., Williams, S. G., O'Sullivan, J., Szlauer, A., Koch, C., Baranello, G., Mora, M., Ripolone, M., Violano, R., Moggio, M., Kingston, H., Dawson, T., DeGoede, C. G., Nixon, J., Boland, A., Deleuze, J. F., Romero, N. & 3 others, Newman, W. G., Demaurex, N. & Laporte, J., Apr 1 2017, In : Human Mutation. 38, 4, p. 426-438 13 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Homeostasis
Genetic Association Studies
Permeability
19 Citations (Scopus)

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P. B., Needham, M., Liang, C., Zanoteli, E., de Camargo, L. V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R. & 9 others, Moggio, M. G., Barohn, R. J., Dimachkie, M. M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A. B., Hanna, M. G. & Houlden, H., 2016, In : Neurobiology of Aging. 47, p. 218.e1–218.e9 9 p.

Research output: Contribution to journalArticle

Inclusion Body Myositis
Genes
Neurodegenerative Diseases
Exome
Genetic Association Studies