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Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E. & Pareyson, D., Jan 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

Research output: Contribution to journalArticle

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy

Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E. & Pareyson, D., Jan 1 2018, In : European Journal of Neurology. 25, 1, p. 154-163 10 p.

Research output: Contribution to journalArticle

Autophagy as a new therapeutic target in Duchenne muscular dystrophy

De Palma, C., Morisi, F., Cheli, S., Pambianco, S., Cappello, V., Vezzoli, M., Rovere-Querini, P., Moggio, M., Ripolone, M., Francolini, M., Sandri, M. & Clementi, E., Nov 2012, In : Cell Death and Disease. 3, 11, e418.

Research output: Contribution to journalArticle

cAMP-Epac2-mediated activation of rapl in developing male germ cells: RA-RhoGAP as a possible direct down-stream effector

Aivatiadou, E., Ripolone, M., Brunetti, F. & Berruti, G., Apr 2009, In : Molecular Reproduction and Development. 76, 4, p. 407-416 10 p.

Research output: Contribution to journalArticle

Drp1 overexpression induces desmin disassembling and drives kinesin-1 activation promoting mitochondrial trafficking in skeletal muscle

Giovarelli, M., Zecchini, S., Martini, E., Garrè, M., Barozzi, S., Ripolone, M., Napoli, L., Coazzoli, M., Vantaggiato, C., Roux-Biejat, P., Cervia, D., Moscheni, C., Perrotta, C., Parazzoli, D., Clementi, E. & De Palma, C., Jan 1 2020, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Open Access

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

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

Sottnik, J. L., Mallaredy, V., Chauca-Diaz, A., Ritterson Lew, C., Owens, C., Dancik, G. M., Pagliarani, S., Lucchiari, S., Moggio, M., Ripolone, M., Comi, G. P., Frierson, H. F., Clouthier, D. & Theodorescu, D., Mar 12 2019, In : Carcinogenesis. 40, 1, p. 194-201 8 p.

Research output: Contribution to journalArticle

Erratum: Autophagy as a new therapeutic target in duchenne muscular dystrophy (Cell Death and Disease (2012) 3 (e418) DOI: 10.1038/cddis.2012.159)

De Palma, C., Morisi, F., Cheli, S., Pambianco, S., Cappello, V., Vezzoli, M., Rovere-Querini, P., Moggio, M., Ripolone, M., Francolini, M., Sandri, M. & Clementi, E., Mar 2013, In : Cell Death and Disease. 4, 3

Research output: Contribution to journalArticle

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: A novel Agl knockout mouse model

Pagliarani, S., Lucchiari, S., Ulzi, G., Violano, R., Ripolone, M., Bordoni, A., Nizzardo, M., Gatti, S., Corti, S., Moggio, M., Bresolin, N. & Comi, G. P., 2014, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1842, 11, p. 2318-2328 11 p.

Research output: Contribution to journalArticle

Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy

Ripolone, M., Ronchi, D., Violano, R., Vallejo, D., Fagiolari, G., Barca, E., Lucchini, V., Colombo, I., Villa, L., Berardinelli, A., Balottin, U., Morandi, L., Mora, M., Bordoni, A., Fortunato, F., Corti, S., Parisi, D., Toscano, A., Sciacco, M., Di Mauro, S. & 2 others, Comi, G. P. & Moggio, M., Jun 1 2015, In : JAMA Neurology. 72, 6, p. 666-675 10 p.

Research output: Contribution to journalArticle

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., Jan 1 2019, In : Acta Neuropathologica. 138, 3, p. 477-495

Research output: Contribution to journalArticle

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

Ciammola, A., Sassone, J., Sciacco, M., Mencacci, N. E., Ripolone, M., Bizzi, C., Colciago, C., Moggio, M., Parati, G., Silani, V. & Malfatto, G., Jan 2011, In : Movement Disorders. 26, 1, p. 130-137 8 p.

Research output: Contribution to journalArticle

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

Lamperti, C., Salani, S., Lucchiari, S., Bordoni, A., Ripolone, M., Fagiolari, G., Fruguglietti, M. E., Crugnola, V., Colombo, C., Cappellini, A., Prelle, A., Bresolin, N., Comi, G. P. & Moggio, M., 2009, In : Journal of Inherited Metabolic Disease. 32, SUPPL. 1

Research output: Contribution to journalArticle

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., Dimauro, S., Comi, G. P. & Sciacco, M., 2012, In : Brain. 135, 11, p. 3404-3415 12 p.

Research output: Contribution to journalArticle

Novel CLN3 mutation causing autophagic vacuolar myopathy

Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., Napoli, L., Lucchini, V., Ripolone, M., Violano, R., Fagiolari, G., Mole, S. E., Hardy, J., Moglia, A. & 1 others, Moggio, M., Jun 10 2014, In : Neurology. 82, 23, p. 2072-2076 5 p.

Research output: Contribution to journalArticle

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

Purkinje cell cox deficiency and mtdna depletion in an animal model of spinocerebellar ataxia type 1

Ripolone, M., Lucchini, V., Ronchi, D., Fagiolari, G., Bordoni, A., Fortunato, F., Mondello, S., Bonato, S., Meregalli, M., Torrente, Y., Corti, S., Comi, G. P., Moggio, M. & Sciacco, M., Jan 1 2018, In : Journal of Neuroscience Research. 96, 9, p. 1576-1585 10 p.

Research output: Contribution to journalArticle

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

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

Gang, Q., Bettencourt, C., MacHado, P., Brady, S., Holton, J. L., Pittman, A., 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. L., Shaibani, A., Ripolone, M., Violano, R. & 9 others, Moggio, M., Barohn, R. J., Dimachkie, M. M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A., Hanna, M. G. & Houlden, H., Mar 17 2016, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

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

Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma

Fruguglietti, M. E., Napoli, L., Sciacco, M., Ripolone, M., Serafini, M., Grimoldi, N., Bresolin, N., Moggio, M. & Prelle, A., 2009, In : Clinical Neuropathology. 28, 2, p. 125-128 4 p.

Research output: Contribution to journalArticle

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Gang, Q., Bettencourt, C., Machado, P. M., Fox, Z., Brady, S., Healy, E., Parton, M., Holton, J. L., Hilton-Jones, D., Shieh, P. B., Zanoteli, E., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R. J., Dimachkie, M. M., Mora, M. & 4 others, Mantegazza, R., Zanotti, S., Hanna, M. G. & Houlden, H., Apr 1 2015, In : Neurobiology of Aging. 36, 4, p. 1766.e1-1766.e3

Research output: Contribution to journalArticle

The novel mitochondrial tRNA Asn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Ronchi, D., Sciacco, M., Bordoni, A., Raimondi, M., Ripolone, M., Fassone, E., Di Fonzo, A., Rizzuti, M., Ciscato, P., Cosi, A., Servida, M., Moggio, M., Corti, S., Bresolin, N. & Comi, G. P., Mar 2012, In : European Journal of Human Genetics. 20, 3, p. 357-360 4 p.

Research output: Contribution to journalArticle

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., 2020, In : Human Mutation. 41, 1, p. 17-37

Research output: Contribution to journalArticle