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Massimiliano Mirabella

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Marco Luigetti; Alessandro Cianfoni; Serenella Servidei; Massimiliano Mirabella
Neurological picture. Bilateral thoracic long nerve involvement in motor multifocal neuropathy.
Teresa Gidaro; Jean Lacau St Guily; Jeanne Lainé; Massimiliano Mirabella; Vincent Mouly; E Negroni; Sophie Perié; Gillian Butler-Browne; capucine Trollet
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients.
Giorgio Tasca; Emanuele Barca; Elisabetta Iannaccone; Francesco Laschena; Massimiliano Mirabella; Mauro Monforte; Pierfrancesco Ottaviani; Enzo Ricci; Carmelo Rodolico; Gabriella Silvestri; Aldobrando Broccolini
Muscle imaging findings in GNE myopathy.

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2013: Marco Luigetti; Alessandro Cianfoni; Serenella Servidei; Massimiliano Mirabella
Neurological picture. Bilateral thoracic long nerve involvement in motor multifocal neuropathy.
Journal of neurology, neurosurgery, and psychiatry 2013;84(5):584.
2013: Teresa Gidaro; Jean Lacau St Guily; Jeanne Lainé; Massimiliano Mirabella; Vincent Mouly; E Negroni; Sophie Perié; Gillian Butler-Browne; capucine Trollet
Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients.
Journal of neuropathology and experimental neurology 2013;72(3):234-43.
2012: Giorgio Tasca; Emanuele Barca; Elisabetta Iannaccone; Francesco Laschena; Massimiliano Mirabella; Mauro Monforte; Pierfrancesco Ottaviani; Enzo Ricci; Carmelo Rodolico; Gabriella Silvestri; Aldobrando Broccolini
Muscle imaging findings in GNE myopathy.
Journal of neurology 2012;259(7):1358-65.
2012: Roberta Morosetti; Cristina Sancricca; Aldobrando Broccolini; Teresa Gidaro; Carla Gliubizzi; Matteo Lucchini; Massimiliano Mirabella
TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis.
The American journal of pathology 2012;180(4):1603-13.
2012: Chiara De Fino; Riccardo Di Iorio; Stefan Hohaus; Vincenzo Arena; Valentina Bozzoli; Massimiliano Mirabella
Intravascular large B-cell lymphoma presenting as slowly progressive paraparesis with normal MRI features.
Journal of the neurological sciences 2012;314(1-2):171-4.
2012: Giorgio Tasca; Tiziana Cubeddu; Roberto Frusciante; Elisabetta Iannaccone; Francesco Laschena; Massimiliano Mirabella; Mauro Monforte; Pierfrancesco Ottaviani; Mario Pescatori; Enzo Ricci
Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles.
PloS one 2012;7(6):e38779.
2011: Aldobrando Broccolini; Teresa Gidaro; Roberta Morosetti; Cristina Sancricca; Massimiliano Mirabella
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2011;30(2):91-5.
2011: Cristina Sancricca; Pietro A Tonali; Renato Mantegazza; Marina Mora; Enzo Ricci; Massimiliano Mirabella
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2011;32(5):841-7.
2011: Roberta Morosetti; Cristina Sancricca; Aldobrando Broccolini; Carla Gliubizzi; Massimiliano Mirabella
Mesoangioblasts of inclusion-body myositis: a twofold tool to study pathogenic mechanisms and enhance defective muscle regeneration.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2011;30(1):24-8.
2011: Giovanni Frisullo; Roberto Frusciante; Viviana Nociti; Giorgio Tasca; Rosaria Renna; Raffaele Iorio; Agata Katia Patanella; Elisabetta Iannaccone; Alessandro Marti; Monica Rossi; Assunta Bianco; Mauro Monforte; Pietro A Tonali; Massimiliano Mirabella; Anna Paola Batocchi; Enzo Ricci
CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI.
Journal of clinical immunology 2011;31(2):155-66.
2011: Roberta Morosetti; Enzo Ricci; Cristina Sancricca; Pietro A Tonali; Aldobrando Broccolini; Teresa Gidaro; Carla Gliubizzi; Massimiliano Mirabella
Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior.
Cell transplantation 2011;20(8):1299-313.
2010: Aldobrando Broccolini; Teresa Gidaro; Giorgio Tasca; Roberta Morosetti; Carmelo Rodolico; Enzo Ricci; Massimiliano Mirabella
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Neurology 2010;75(3):265-72.
2010: Roberta Morosetti; Aldobrando Broccolini; Cristina Sancricca; Carla Gliubizzi; Teresa Gidaro; Pietro A Tonali; Enzo Ricci; Massimiliano Mirabella
Increased aging in primary muscle cultures of sporadic inclusion-body myositis.
Neurobiology of aging 2010;31(7):1205-14.
2010: Pietro Caliandro; Marco Luigetti; Enzo Ricci; Massimiliano Mirabella; Pietro A Tonali; Luca Padua
Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010;31(1):79-81.
2009: Aldobrando Broccolini; Teresa Gidaro; Roberta Morosetti; Massimiliano Mirabella
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy.
Muscle & nerve 2009;40(3):340-9.
2009: Giovanni Frisullo; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Marcella Caggiula; Alessandro Marti; Cristina Sancricca; Francesco Angelucci; Massimiliano Mirabella; Pietro A Tonali; Anna Paola Batocchi
Regulatory T cells fail to suppress CD4T+-bet+ T cells in relapsing multiple sclerosis patients.
Immunology 2009;127(3):418-28.
2009: Raffaele Iorio; Giovanni Frisullo; Viviana Nociti; K A Patanella; A Bianco; A Marti; Massimiliano Mirabella; Pietro A Tonali; Anna Paola Batocchi
T-bet, pSTAT1 and pSTAT3 expression in peripheral blood mononuclear cells during pregnancy correlates with post-partum activation of multiple sclerosis.
Clinical immunology (Orlando, Fla.) 2009;131(1):70-83.
2008: Giovanni Frisullo; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Alessandro Marti; Massimiliano Mirabella; Pietro A Tonali; Anna Paola Batocchi
The persistency of high levels of pSTAT3 expression in circulating CD4+ T cells from CIS patients favors the early conversion to clinically defined multiple sclerosis.
Journal of neuroimmunology 2008;205(1-2):126-34.
2008: Giovanni Frisullo; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Alessandro Marti; Giovanni Cammarota; Massimiliano Mirabella; Pietro Attilio Tonali; Anna Paola Batocchi
Increased expression of T-bet in circulating B cells from a patient with multiple sclerosis and celiac disease.
Human immunology 2008;69(12):837-9.
2008: Giovanni Frisullo; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Alessandro Marti; Marcella Caggiula; Massimiliano Mirabella; Pietro A Tonali; Anna Paola Batocchi
IL17 and IFNgamma production by peripheral blood mononuclear cells from clinically isolated syndrome to secondary progressive multiple sclerosis.
Cytokine 2008;44(1):22-5.
2008: M Luigetti; Giorgio Tasca; Massimiliano Mirabella; Pietro A Tonali; Mario Sabatelli
ANCA-related vasculitic neuropathy mimicking motor neuron disease.
Acta neurologica Belgica 2008;108(3):109-11.
2008: Aldobrando Broccolini; Teresa Gidaro; Raimondo De Cristofaro; Roberta Morosetti; Carla Gliubizzi; Enzo Ricci; Pietro A Tonali; Massimiliano Mirabella
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.
Journal of neurochemistry 2008;105(3):971-81.
2008: Agnès Delaunay; Kenneth Bromberg; Yukiko Hayashi; Massimiliano Mirabella; Denise Burch; Brian Kirkwood; Carlo Serra; May C Malicdan; Andrew P Mizisin; Roberta Morosetti; Aldobrando Broccolini; Ling T Guo; Stephen N Jones; sergio lira; Pier Lorenzo Puri; G Diane Shelton; Ze'ev Ronai
The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis.
PloS one 2008;3(2):e1609.
2008: Teresa Gidaro; Anna Modoni; Mario Sabatelli; Giorgio Tasca; Aldobrando Broccolini; Massimiliano Mirabella
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.
Muscle & nerve 2008;37(1):111-4.
2007: Giovanni Frisullo; Massimiliano Mirabella; Francesco Angelucci; Marcella Caggiula; Roberta Morosetti; Cristina Sancricca; Agata Katia Patanella; Viviana Nociti; Raffaele Iorio; Assunta Bianco; Valentina Tomassini; Carlo Pozzilli; Pietro A Tonali; Giuseppe Matarese; Anna Paola Batocchi
The effect of disease activity on leptin, leptin receptor and suppressor of cytokine signalling-3 expression in relapsing-remitting multiple sclerosis.
Journal of neuroimmunology 2007;192(1-2):174-83.
2007: Roberta Morosetti; Massimiliano Mirabella; Carla Gliubizzi; Aldobrando Broccolini; Cristina Sancricca; Mario Pescatori; Teresa Gidaro; Giorgio Tasca; Roberto Frusciante; Pietro A Tonali; Giulio Cossu; Enzo Ricci
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies.
Stem cells (Dayton, Ohio) 2007;25(12):3173-82.
2007: Giovanni Frisullo; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Assunta Bianco; Marcella Caggiula; Cristina Sancricca; Pietro A Tonali; Massimiliano Mirabella; Anna Paola Batocchi
Glucocorticoid treatment reduces T-bet and pSTAT1 expression in mononuclear cells from relapsing remitting multiple sclerosis patients.
Clinical immunology (Orlando, Fla.) 2007;124(3):284-93.
2007: Giovanni Frisullo; Giacomo Della Marca; Massimiliano Mirabella; Marcella Caggiula; Aldobrando Broccolini; Marco Rubino; Gioacchino Mennuni; Pietro A Tonali; Anna Paola Batocchi
A human anti-neuronal autoantibody against GABA B receptor induces experimental autoimmune agrypnia.
Experimental neurology 2007;204(2):808-18.
2007: Mario Pescatori; Aldobrando Broccolini; Carlo Minetti; Enrico Bertini; Claudio Bruno; Adele D'Amico; Camilla Bernardini; Massimiliano Mirabella; Gabriella Silvestri; Vincenzo Giglio; Anna Modoni; Marina Pedemonte; Giorgio Tasca; Giuliana Galluzzi; Eugenio Mercuri; Pietro A Tonali; Enzo Ricci
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007;21(4):1210-26.
2007: Anna Modoni; Massimiliano Mirabella; Francesca Madia; T Sanna; G Lanza; Pietro A Tonali; Gabriella Silvestri
Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy.
Neurology 2007;68(2):161-2.
2006: Roberta Morosetti; Massimiliano Mirabella; Carla Gliubizzi; Aldobrando Broccolini; Luciana De Angelis; Enrico Tagliafico; Maurilio Sampaolesi; Teresa Gidaro; Manuela Papacci; Enrica Roncaglia; Sergio Rutella; Stefano Ferrari; Pietro A Tonali; Enzo Ricci; Giulio Cossu
MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(45):16995-7000.
2006: Giovanni Frisullo; Francesco Angelucci; Marcella Caggiula; Viviana Nociti; Raffaele Iorio; Agata Katia Patanella; Cristina Sancricca; Massimiliano Mirabella; Pietro A Tonali; Anna Paola Batocchi
pSTAT1, pSTAT3, and T-bet expression in peripheral blood mononuclear cells from relapsing-remitting multiple sclerosis patients correlates with disease activity.
Journal of neuroscience research 2006;84(5):1027-36.
2006: Enzo Ricci; Aldobrando Broccolini; Teresa Gidaro; Roberta Morosetti; Carla Gliubizzi; Roberto Frusciante; G M Di Lella; Pietro A Tonali; Massimiliano Mirabella
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
Neurology 2006;66(5):755-8.
2006: Vincenzo Giglio; Vincenzo Pasceri; Loredana Messano; Quintino Parisi; Gabriele Rinelli; Luciano Pasquini; Antonio Dello Russo; Aldobrando Broccolini; Giuliana Galluzzi; Mario Pescatori; Massimiliano Mirabella; Teresa Gidaro; Fortunato Mangiola; Enzo Ricci
Integrated backscatter in Becker muscular dystrophy patients with functionally normal heart: myocardial ultrasound tissue characterization study.
Journal of the American College of Cardiology 2006;47(3):686-8.
2006: Eugenio Mercuri; Sonia Messina; R Battini; Angela Berardinelli; P Boffi; R Bono; Claudio Bruno; N Carboni; Claudio Cini; Francesca Colitto; Adele D'Amico; Carlo Minetti; Massimiliano Mirabella; Tiziana Mongini; Lucia Morandi; N Dlamini; Simona Orcesi; Marco Pelliccioni; Marika Pane; Antonella Pini; A V Swan; Marcello Villanova; Giuseppe Vita; Marion Main; Francesco Muntoni; Enrico Bertini
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Neuromuscular disorders : NMD 2006;16(2):93-8.
2006: Aldobrando Broccolini; Teresa Gidaro; Roberta Morosetti; Carla Gliubizzi; Tiziana Servidei; Mario Pescatori; Pietro A Tonali; Enzo Ricci; Massimiliano Mirabella
Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.
Journal of neurochemistry 2006;96(3):777-89.
2006: Francesco Angelucci; Anna Paola Batocchi; Marcella Caggiula; Giovanni Frisullo; Katia Patanella; Cristina Sancricca; Viviana Nociti; Pietro A Tonali; Massimiliano Mirabella
In vivo effects of mitoxantrone on the production of pro- and anti-inflammatory cytokines by peripheral blood mononuclear cells of secondary progressive multiple sclerosis patients.
Neuroimmunomodulation 2006;13(2):76-81.
2006: Marcella Caggiula; Anna Paola Batocchi; Giovanni Frisullo; Francesco Angelucci; Agata Katia Patanella; Cristina Sancricca; Viviana Nociti; Pietro A Tonali; Massimiliano Mirabella
Neurotrophic factors in relapsing remitting and secondary progressive multiple sclerosis patients during interferon beta therapy.
Clinical immunology (Orlando, Fla.) 2006;118(1):77-82.
2005: Viviana Nociti; Alessandro Cianfoni; Massimiliano Mirabella; Marcella Caggiula; Giovanni Frisullo; Agata Katia Patanella; Cristina Sancricca; Francesco Angelucci; Pietro A Tonali; Anna Paola Batocchi
Clinical characteristics, course and prognosis of spinal multiple sclerosis.
Spinal cord 2005;43(12):731-4.
2005: Francesco Angelucci; Massimiliano Mirabella; Marcella Caggiula; Giovanni Frisullo; Katia Patanella; Cristina Sancricca; Viviana Nociti; Pietro A Tonali; Anna Paola Batocchi
Evidence of involvement of leptin and IL-6 peptides in the action of interferon-beta in secondary progressive multiple sclerosis.
Peptides 2005;26(11):2289-93.
2005: Marcella Caggiula; Anna Paola Batocchi; Giovanni Frisullo; Francesco Angelucci; Agata Katia Patanella; Cristina Sancricca; Viviana Nociti; Pietro A Tonali; Massimiliano Mirabella
Neurotrophic factors and clinical recovery in relapsing-remitting multiple sclerosis.
Scandinavian journal of immunology 2005;62(2):176-82.
2005: Aldobrando Broccolini; Carla Gliubizzi; Ernesto Pavoni; Teresa Gidaro; Roberta Morosetti; Francesca Sciandra; Bruno Giardina; Pietro Tonali; Enzo Ricci; Andrea Brancaccio; Massimiliano Mirabella
alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.
Neuromuscular disorders : NMD 2005;15(2):177-84.
2005: Francesco Angelucci; Massimiliano Mirabella; Giovanni Frisullo; Marcella Caggiula; Pietro A Tonali; Anna Paola Batocchi
Serum levels of anti-myelin antibodies in relapsing-remitting multiple sclerosis patients during different phases of disease activity and immunomodulatory therapy.
Disease markers 2005;21(2):49-55.
2004: Roberta Morosetti; Tiziana Servidei; Massimiliano Mirabella; Sergio Rutella; Annunziato Mangiola; Giulio Maira; Renato Mastrangelo; H Phillip Koeffler
The PPARgamma ligands PGJ2 and rosiglitazone show a differential ability to inhibit proliferation and to induce apoptosis and differentiation of human glioblastoma cell lines.
International journal of oncology 2004;25(2):493-502.
2004: Aldobrando Broccolini; Enzo Ricci; Mario Pescatori; Manuela Papacci; Carla Gliubizzi; Adele D'Amico; Serenella Servidei; Pietro Tonali; Massimiliano Mirabella
Insulin-like growth factor I in inclusion-body myositis and human muscle cultures.
Journal of neuropathology and experimental neurology 2004;63(6):650-9.
2004: Aldobrando Broccolini; Enzo Ricci; Denise Cassandrini; Carla Gliubizzi; Claudio Bruno; Emmanuel Tonoli; Gabriella Silvestri; Mario Pescatori; Carmelo Rodolico; Stefano Sinicropi; Serenella Servidei; Federico Zara; Carlo Minetti; Pietro A Tonali; Massimiliano Mirabella
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
Human mutation 2004;23(6):632.
2004: Giovanni Frisullo; Francesco Angelucci; Massimiliano Mirabella; Marcella Caggiula; Katia Patanella; Viviana Nociti; Pietro A Tonali; Anna Paola Batocchi
Leptin enhances the release of cytokines by peripheral blood mononuclear cells from relapsing multiple sclerosis patients.
Journal of clinical immunology 2004;24(3):287-93.
2004: Simone Di Giovanni; Annamaria Molon; Aldobrando Broccolini; Gisela Melcon; Massimiliano Mirabella; Eric Hoffman; Serenella Servidei
Constitutive activation of MAPK cascade in acute quadriplegic myopathy.
Annals of neurology 2004;55(2):195-206.
2004: Eugenio Mercuri; Enrico Bertini; Sonia Messina; Marco Pelliccioni; Adele D'Amico; Francesca Colitto; Massimiliano Mirabella; Francesco D Tiziano; Tiziana Vitali; Carla Angelozzi; Maria Kinali; Marion Main; Christina Brahe
Pilot trial of phenylbutyrate in spinal muscular atrophy.
Neuromuscular disorders : NMD 2004;14(2):130-5.
2003: Vincenzo Giglio; Vincenzo Pasceri; Loredana Messano; Fortunato Mangiola; Luciano Pasquini; Antonio Dello Russo; Antonello Damiani; Massimiliano Mirabella; Giuliana Galluzzi; Pietro Tonali; Enzo Ricci
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy.
Journal of the American College of Cardiology 2003;42(2):309-16.
2003: Domenico Restuccia; Marco Rubino; Massimiliano Valeriani; Massimiliano Mirabella; Mario Sabatelli; Pietro Tonali
Cervical cord dysfunction during neck flexion in Hirayama's disease.
Neurology 2003;60(12):1980-3.
2003: Anna Paola Batocchi; Mario Rotondi; Marcella Caggiula; Giovanni Frisullo; Francesca Odoardi; Viviana Nociti; Carlo Carella; Pietro A Tonali; Massimiliano Mirabella
Leptin as a marker of multiple sclerosis activity in patients treated with interferon-beta.
Journal of neuroimmunology 2003;139(1-2):150-4.
2003: Francesca Odoardi; Michele Rana; Aldobrando Broccolini; Massimiliano Mirabella; Anna Modoni; Adele D'Amico; Manuela Papacci; Pietro Tonali; Serenella Servidei; Gabriella Silvestri
Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions.
American journal of medical genetics. Part A 2003;118A(3):247-54.
2002: Aldobrando Broccolini; Mario Pescatori; Adele D'Amico; Andrea Sabino; Gabriella Silvestri; Enzo Ricci; Serenella Servidei; Pietro A Tonali; Massimiliano Mirabella
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
Neurology 2002;59(11):1808-9.
2001: Anna Paola Batocchi; Giacomo Della Marca; Massimiliano Mirabella; Marcella Caggiula; Giovanni Frisullo; Gioacchino Mennuni; Pietro A Tonali
Relapsing-remitting autoimmune agrypnia.
Annals of neurology 2001;50(5):668-71.
2001: Simone Di Giovanni; Massimiliano Mirabella; antonella spinazzola; P Crociani; Gabriella Silvestri; Aldobrando Broccolini; Pietro Tonali; S Di Mauro; Serenella Servidei
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.
Neurology 2001;57(3):515-8.
2001: Simone Di Giovanni; Massimiliano Mirabella; Manuela Papacci; Francesca Odoardi; Gabriella Silvestri; Serenella Servidei
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.
Molecular and cellular neurosciences 2001;17(4):696-705.
2001: V Sossi; A Giuli; Tiziana Vitali; Francesco D Tiziano; Massimiliano Mirabella; A Antonelli; Giovanni Neri; Christina Brahe
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
European journal of human genetics : EJHG 2001;9(2):113-20.
2000: Simone Di Giovanni; Massimiliano Mirabella; Adele D'Amico; Pietro Tonali; Serenella Servidei
Apoptotic features accompany acute quadriplegic myopathy.
Neurology 2000;55(6):854-8.
2000: Giulio Piluso; Massimiliano Mirabella; Enzo Ricci; A Belsito; Ciro Abbondanza; Serenella Servidei; AA Puca; P Tonali; Giovanni Alfredo Puca; Vincenzo Nigro
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells.
The Journal of biological chemistry 2000;275(21):15851-60.
2000: Massimiliano Mirabella; Kyproula Christodoulou; Simone Di Giovanni; Enzo Ricci; Pietro Tonali; Serenella Servidei
An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(2):99-102.
2000: Massimiliano Mirabella; Gabriella Silvestri; G de Rosa; Simone Di Giovanni; Antonio Di Muzio; Antonino Uncini; Pietro Tonali; Serenella Servidei
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.
Neurology 2000;54(3):608-14.
2000: Massimiliano Mirabella; Simone Di Giovanni; Gabriella Silvestri; Pietro Tonali; Serenella Servidei
Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.
Brain : a journal of neurology 2000;123 ( Pt 1)():93-104.
1999: Serenella Servidei; Francesca Capon; antonella spinazzola; Massimiliano Mirabella; Sabrina Semprini; G de Rosa; Massimo Gennarelli; Federica Sangiuolo; Enzo Ricci; Harvey W Mohrenweiser; Bruno Dallapiccola; Pietro Tonali; Giuseppe Novelli
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Neurology 1999;53(4):830-7.
1999: Enzo Ricci; Giuliana Galluzzi; G Deidda; S Cacurri; Luca Colantoni; B Merico; N Piazzo; Serenella Servidei; E Vigneti; Vincenzo Pasceri; Gabriella Silvestri; Massimiliano Mirabella; Fortunato Mangiola; Pietro Tonali; Luciano Felicetti
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Annals of neurology 1999;45(6):751-7.
1999: Massimiliano Mirabella; Serenella Servidei; Aldobrando Broccolini; N Gandolfi; Enzo Ricci; G Neri; Pietro Tonali; Christina Brahe
The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription.
Neurogenetics 1999;2(2):97-100.
1998: Massimiliano Mirabella; Giuliana Galluzzi; G Manfredi; Enrico Bertini; Enzo Ricci; R De Leo; Pietro Tonali; Serenella Servidei
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.
Neurology 1998;51(2):592-5.
1994: Antonino Uncini; Serenella Servidei; G Silvestri; G Manfredi; Mario Sabatelli; Antonio Di Muzio; Enzo Ricci; Massimiliano Mirabella; S Di Mauro; P Tonali
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.
Muscle & nerve 1994;17(6):667-74.
1993: Massimiliano Mirabella; Serenella Servidei; G Manfredi; Enzo Ricci; A Frustaci; Enrico Bertini; Michele Rana; P Tonali
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.
Neurology 1993;43(11):2342-5.
1993: G Manfredi; G Silvestri; Serenella Servidei; Enzo Ricci; Massimiliano Mirabella; Enrico Bertini; M Papacci; Michele Rana; P Tonali
Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family.
Journal of the neurological sciences 1993;115(1):91-4.