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Research Output 2007 2020

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2020

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

Congenital Structural Myopathies
Genetic Association Studies
Mutation
Miosis
Ichthyosis
2019

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

Urinary Bladder Neoplasms
Carcinogenesis
Urinary Bladder
Knockout Mice
Urothelium

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

Nemaline Myopathies
Nuclear Envelope
Cytoskeleton
Mutation
Cytoskeletal Proteins
2018

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

Muscles
Distal Myopathies
Small Heat-Shock Proteins
Charcot-Marie-Tooth Disease
Biopsy

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

Muscles
Distal Myopathies
Small Heat-Shock Proteins
Charcot-Marie-Tooth Disease
Biopsy

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

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

Cytochrome-c Oxidase Deficiency
Spinocerebellar Ataxias
Purkinje Cells
Animal Models
Transgenic Mice
2017

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

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

Inclusion Body Myositis
Genes
Neurodegenerative Diseases
Exome
Genetic Association Studies

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

2015

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

Spinal Muscular Atrophy
Muscle Development
Organelle Biogenesis
Muscles
Spinal Muscular Atrophies of Childhood

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

Inclusion Body Myositis
Genotype
Age of Onset
Alleles
Apolipoprotein E3
2014

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

Glycogen Storage Disease Type III
Glycogen
Knockout Mice
Hepatomegaly
Glucosidases

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

Vacuoles
Mutation
Exome
Hypertrophic Cardiomyopathy
Genetic Testing
2013

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

2012

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

Duchenne Muscular Dystrophy
Autophagy
Inbred mdx Mouse
Sirolimus
Organelles

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

Mitochondrial DNA
Mutation
Chronic Progressive External Ophthalmoplegia
Mitochondrial Myopathies
deoxyguanosine kinase

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

RNA, Transfer, Asn
Ophthalmoplegia
Mitochondrial DNA
Mutation
Phenotype
2011

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

Anaerobic Threshold
Huntington Disease
Lactic Acid
Skeletal Muscle
Exercise
2010
Endosomal Sorting Complexes Required for Transport
Acrosome
Spermatids
Ubiquitin
Microtubules
2009

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

Germ Cells
Fluorescent Antibody Technique
Proteins
Spermatids
Monomeric GTP-Binding Proteins

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

Glycogen Storage Disease Type IV
Skeletal Muscle
1,4-alpha-Glucan Branching Enzyme
Mutation
Muscle Hypotonia

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

Churg-Strauss Syndrome
Peripheral Nerves
Melanoma
montelukast
Leukocytosis
2007
Myelin P0 Protein
Charcot-Marie-Tooth Disease
Mutation
Myelin Sheath
Myelin Proteins