If you made any changes in Pure these will be visible here soon.

Research Output 2016 2019

  • 55 Citations
  • 3 h-Index
  • 6 Article
2019

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
2018
9 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
2017
27 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
2016
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

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

Pambianco, S., Giovarelli, M., Perrotta, C., Zecchini, S., Cervia, D., Di Renzo, I., Moscheni, C., Ripolone, M., Violano, R., Moggio, M., Bassi, M. T., Puri, P. L., Latella, L., Clementi, E. & Palma, C., 2016, In : Cell Reports. 17, 11, p. 3010-3023 14 p.

Research output: Contribution to journalArticle