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Serenella Servidei

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TOP 3
Marco Luigetti; Alessandro Cianfoni; Serenella Servidei; Massimiliano Mirabella
Bilateral thoracic long nerve involvement in motor multifocal neuropathy.
Domenico Plantone; Guido Primiano; Rosaria Renna; Serenella Servidei
Osteoma of the internal auditory canal.
Guido Primiano; Rosaria Renna; Donato Sauchelli; Cristina Cuccagna; Raffaele Iorio; Domenico Plantone; Serenella Servidei
Resolution of muscle inflammation after tumor removal in a woman with paraneoplastic dermatomyositis.

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All Publications

2013: Marco Luigetti; Alessandro Cianfoni; Serenella Servidei; Massimiliano Mirabella
Bilateral thoracic long nerve involvement in motor multifocal neuropathy.
Journal of neurology, neurosurgery, and psychiatry 2013;84(5):584.
2013: Domenico Plantone; Guido Primiano; Rosaria Renna; Serenella Servidei
Osteoma of the internal auditory canal.
Internal medicine (Tokyo, Japan) 2013;52(7):839.
2012: Guido Primiano; Rosaria Renna; Donato Sauchelli; Cristina Cuccagna; Raffaele Iorio; Domenico Plantone; Serenella Servidei
Resolution of muscle inflammation after tumor removal in a woman with paraneoplastic dermatomyositis.
The Journal of rheumatology 2012;39(12):2359-60.
2012: Donato Sauchelli; Giancarlo Scoppettuolo; Mario Tumbarello; Massimo Antonelli; Daniela Bernardo; Cristina Cuccagna; Gennaro De Pascale; Giovanni Frisullo; Serenella Servidei
Neurological involvement during legionellosis, look beyond the lung.
Journal of neurology 2012;259(10):2243-5.
2012: Amelia Evoli; Giovanni Frisullo; Serenella Servidei; Pietro Spinelli; Paolo E Alboini; Camillo Marra
Spontaneous recovery from anti-NMDAR encephalitis.
Journal of neurology 2012;259(9):1964-6.
2012: Jie Zhou; Flora Nolent; Yavuz Renda; Serenella Servidei; Marcel Tawk; Francesco Danilo Tiziano; Haluk Topaloglu; Julien Veillet; Nathalie Andrieu-Abadie; Monica Bayes; Enrico Bertini; Stéphane Carpentier; Francesc Castro-Giner; Virginie Garcia; Ivo Gut; Thierry Levade; Judith Melki
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
American journal of human genetics 2012;91(1):5-14.
2012: Corrado Angelini; Giacomo P Comi; Grazia Crescimanno; Massimiliano Filosto; Giovanni Marrosu; Maurizio Moggio; Tiziana Mongini; Lucia Morandi; Olimpia Musumeci; Elena Pegoraro; Sabrina Ravaglia; Claudio Semplicini; Serenella Servidei; Gabriele Siciliano; Paola Tonin; Antonio Toscano
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Muscle & nerve 2012;45(6):831-4.
2012: Corrado Angelini; B Bembi; F Carubbi; G Crescimanno; G Di Iorio; M A Donati; Mario Ermani; Massimiliano Filosto; G Greco; Giovanni Marrosu; Maurizio Moggio; Tiziana Mongini; Lucia Morandi; Olimpia Musumeci; R Parini; Elena Pegoraro; S Ravaglia; C Semplicini; Serenella Servidei; E Sette; Gabriele Siciliano; Paola Tonin; A Toscano
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Journal of neurology 2012;259(5):952-8.
2012: Fioravante Capone; Mario Meglio; Stefania Moncelsi; Mariangela Novello; Tommaso Pirronti; Emanuele Pravatà; Serenella Servidei
A rare case of life-threatening giant plexiform schwannoma.
The spine journal : official journal of the North American Spine Society 2012;12(1):83.
2012: Amelia Conte; Alessandra Del Grande; Serena Lattante; Marco Luigetti; Giuseppe Marangi; Serenella Servidei; Federica Trombetta; Marcella Zollino; Mario Sabatelli
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD 2012;22(1):73-5.
2011: Fioravante Capone; Donato Sauchelli; Italo De Vitis; Carla Piano; Cristina Cuccagna; Amelia Evoli; Serenella Servidei
Hypoglossal palsy and coeliac disease: an uncommon presentation for a common disease?
Clinical neurology and neurosurgery 2011;113(5):426-9.
2011: Antonio Chiaretti; Benedetto Falsini; Serenella Servidei; Dario Marangoni; Filomena Pierri; Riccardo Riccardi
Nerve growth factor eye drop administration improves visual function in a patient with optic glioma.
Neurorehabilitation and neural repair 2011;25(4):386-90.
2010: Carlo Masullo; Alessandra Bizzarro; Valeria Guglielmi; Elisabetta Iannaccone; Giacomo Minicuci; Maria Gabriella Vita; Sabina Capellari; Piero Parchi; Serenella Servidei
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010;31(6):837-9.
2009: Michela Catteruccia; Tommaso Sanna; Filippo Maria Santorelli; Alessandra Tessa; Raffaella Di Giacopo; Donato Sauchelli; Alessandro Verbo; Mauro Lo Monaco; Serenella Servidei
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Neuromuscular disorders : NMD 2009;19(11):779-83.
2009: Rita Horvath; John P Kemp; Helen A L Tuppen; Gavin Hudson; Anders Oldfors; Suely K N Marie; Ali-Reza Moslemi; Serenella Servidei; Elisabeth Holme; Sara Shanske; Gittan Kollberg; Parul Jayakar; Angela Pyle; Harold M Marks; Elke Holinski-Feder; Mena Scavina; Maggie C Walter; Jorida Coku; Andrea Günther-Scholz; Paul M Smith; Robert McFarland; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Michio Hirano; Hanns Lochmüller; Robert W Taylor; Patrick F Chinnery; Mar Tulinius; Salvatore DiMauro
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
2009: Giacomo Della Marca; S Dittoni; M Catteruccia; Roberto Frusciante; Francesca Madia; A Losurdo; E Testani; Catello Vollono; Serenella Servidei
Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia.
Neurology 2009;73(8):643-5.
2008: Amelia Evoli; Maria R Bianchi; Raffaella Riso; Giacomo M Minicuci; Anna Paola Batocchi; Serenella Servidei; Flavia Scuderi; Emanuela Bartoccioni
Response to therapy in myasthenia gravis with anti-MuSK antibodies.
Annals of the New York Academy of Sciences 2008;1132():76-83.
2007: Michiko K Bruno; H-Y Lee; G W J Auburger; A Friedman; J E Nielsen; Anthony E Lang; E Bertini; Patrick Van Bogaert; Y Averyanov; Mark Hallett; Katrina Gwinn-Hardy; B Sorenson; M Pandolfo; Hubert Kwiecinski; Serenella Servidei; Ying-Hui Fu; Louis J Ptácek
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
Neurology 2007;68(21):1782-9.
2007: Amelia Evoli; Serenella Servidei
Peginterferon and ribavirin for hepatitis C.
The New England journal of medicine 2007;356(12):1269-70; author reply 1271.
2006: Claudio Bruno; Denise Cassandrini; Andrea Martinuzzi; Antonio Toscano; Maurizio Moggio; Lucia Morandi; Serenella Servidei; Tiziana Mongini; Corrado Angelini; Olimpia Musumeci; Giacomo P Comi; Costanza Lamperti; Massimiliano Filosto; Federico Zara; Carlo Minetti
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Human mutation 2006;27(7):718.
2005: Alessandro Capuano; Catello Vollono; Marco Rubino; Daniele Mei; C Calì; Antonella De Angelis; Girolamo Di Trapani; Serenella Servidei; Giacomo Della Marca
Hypnic headache: actigraphic and polysomnographic study of a case.
Cephalalgia : an international journal of headache 2005;25(6):466-9.
2005: Clarice Patrono; Valentina Scarano; Federica Cricchi; Mariarosa AD Melone; Maria Chiriaco; Alessandro Napolitano; Alessandro Malandrini; Giuseppe De Michele; Lucia Petrozzi; Carlo Giraldi; Lucio Santoro; Serenella Servidei; Carlo Casali; Alessandro Filla; Filippo M Santorelli
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Human mutation 2005;25(5):506.
2004: Hsien-Yang Lee; Ying Xu; Yong Huang; Andrew H Ahn; Georg W J Auburger; Massimo Pandolfo; Hubert Kwiecinski; David A Grimes; Anthony E Lang; Jorgen E Nielsen; Yuri Averyanov; Serenella Servidei; Andrzej Friedman; Patrick Van Bogaert; Marc J Abramowicz; Michiko K Bruno; Beatrice F Sorensen; Ling Tang; Ying-Hui Fu; Louis J Ptácek
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Human molecular genetics 2004;13(24):3161-70.
2004: Timothy M Miller; M R Dias da Silva; H A Miller; Hubert Kwiecinski; Jerry R Mendell; Rabi Tawil; P McManis; Robert C Griggs; C Angelini; Serenella Servidei; J Petajan; M C Dalakas; Laura P W Ranum; Ying-Hui Fu; Louis J Ptácek
Correlating phenotype and genotype in the periodic paralyses.
Neurology 2004;63(9):1647-55.
2004: Marialuisa Diaco; F Ancarini; Massimo Montalto; E Verrechia; Amelia Evoli; Serenella Servidei; Giovanni Gasbarrini; Raffaele Manna
Association of myasthenia gravis and antisynthetase syndrome: a case report.
International journal of immunopathology and pharmacology 2004;17(3):395-9.
2004: Adele D'Amico; A Tessa; Andrea Sabino; E Bertini; F M Santorelli; Serenella Servidei
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
Neurology 2004;62(11):2138-9.
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: Ivana Bosone; Lillana Vercelli; Tiziana Mongini; Lorendana Chiadó-Piat; Elisa Vittonatto; Laura Palmucci; Serenella Servidei; Gabriella Silvestri
Glycogen storage disease type II diagnosed in a 74-year-old woman.
Journal of the American Geriatrics Society 2004;52(6):1034-5.
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: 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: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2004;14(1):107-16.
2003: Serenella Servidei
Mitochondrial encephalomyopathies:gene mutation.
Neuromuscular disorders : NMD 2003;13(10):848-53.
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.
2003: Costanza Lamperti; Ali Naini; Michio Hirano; Darryl C De Vivo; E Bertini; Serenella Servidei; M Valeriani; D Lynch; B Banwell; M Berg; T Dubrovsky; Claudia A Chiriboga; Corrado Angelini; Elena Pegoraro; Salvatore DiMauro
Cerebellar ataxia and coenzyme Q10 deficiency.
Neurology 2003;60(7):1206-8.
2003: Margherita Capasso; S Lupo; Antonio Di Muzio; Antonino Uncini; Serenella Servidei
Immunohistochemical study of caveolin-3 in idiopathic hyperCKaemia.
Journal of neurology, neurosurgery, and psychiatry 2003;74(4):547-8.
2003: Annamaria De Luca; Sabata Pierno; Antonella Liantonio; Michela Cetrone; Claudia Camerino; Bodvael Fraysse; Massimo Mirabella; Serenella Servidei; Urs T Rüegg; Diana Conte Camerino
Enhanced dystrophic progression in mdx mice by exercise and beneficial effects of taurine and insulin-like growth factor-1.
The Journal of pharmacology and experimental therapeutics 2003;304(1):453-63.
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.
2002: Antonino Uncini; Giuliana Galluzzi; Antonio Di Muzio; Maria Vittoria De Angelis; Enzo Ricci; C Scoppetta; Serenella Servidei
Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.
Neuromuscular disorders : NMD 2002;12(9):874-7.
2002: Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serenella Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Annals of neurology 2002;52(2):211-9.
2002: Serenella Servidei
Mitochondrial encephalomyopathies:gene mutation.
Neuromuscular disorders : NMD 2002;12(5):524-9.
2002: Tiziana Mongini; C Doriguzzi; Loredana Chiadò-Piat; Gabriella Silvestri; Serenella Servidei; Laura Palmucci
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
Clinical neuropathology 2002;21(2):72-6.
2002: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2002;12(3):334-9.
2002: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2002;12(2):224-9.
2002: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2002;12(1):101-10.
2001: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2001;11(8):774-9.
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: Giulia Malferrari; M Mirabella; Yuri D'alessandra; Serenella Servidei; Ida Biunno
Deletion polymorphism of DNASE1L1, an X-linked DNase I-like gene, in acid maltase deficiency disorders.
Experimental and molecular pathology 2001;70(2):173-4.
2001: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2001;11(2):230-5.
2000: Federica Sangiuolo; Emanuela Bruscia; Francesca Capon; Serenella Servidei; Bruno Dallapiccola; Giuseppe Novelli
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
European journal of human genetics : EJHG 2000;8(10):809-12.
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: Gabriella Silvestri; Michele Rana; Francesca Odoardi; Anna Modoni; E Paris; Manuela Papacci; Pietro Tonali; Serenella Servidei
Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.
American journal of medical genetics 2000;94(3):201-6.
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: Gabriella Silvestri; Tiziana Mongini; Francesca Odoardi; Anna Modoni; G deRosa; C Doriguzzi; Laura Palmucci; Pietro Tonali; Serenella Servidei
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.
Neurology 2000;54(8):1693-6.
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: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation. Vol. 10 No. 2, February 2000.
Neuromuscular disorders : NMD 2000;10(2):IX-XIII.
2000: Serenella Servidei
Mitochondrial encephalomyopathies: gene mutation.
Neuromuscular disorders : NMD 2000;10(1):XVI-XXIV.
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: Giulia Malferrari; U Mazza; C Tresoldi; Ermanna Rovida; M Nissim; M Mirabella; Serenella Servidei; Ida Biunno
Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders.
Experimental and molecular pathology 1999;66(2):123-30.
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: Zeljka Korade-Mirnics; J Tarleton; Serenella Servidei; R R Casey; M Gennarelli; Elena Pegoraro; Corrado Angelini; Eric Hoffman
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
Human molecular genetics 1999;8(6):1017-23.
1999: Giuliana Galluzzi; G Deidda; S Cacurri; Luca Colantoni; N Piazzo; E Vigneti; Enzo Ricci; Serenella Servidei; B Merico; A Pachì; B Brambati; Fortunato Mangiola; Pietro Tonali; Luciano Felicetti
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.
Neuromuscular disorders : NMD 1999;9(3):190-8.
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.
1999: Domenico Tricarico; Serenella Servidei; P Tonali; K Jurkat-Rott; Diana Conte Camerino
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.
The Journal of clinical investigation 1999;103(5):675-82.
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.
1998: Elena Pegoraro; H Marks; C A Garcia; Thomas O Crawford; Pedro Mancias; Anne M Connolly; Marina Fanin; F Martinello; Carlo Pietro Trevisan; Corrado Angelini; A Stella; Mena Scavina; R L Munk; Serenella Servidei; C C Bönnemann; Tulio Bertorini; Gyula Acsadi; C E Thompson; D Gagnon; G Hoganson; V Carver; R A Zimmerman; Eric Hoffman
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Neurology 1998;51(1):101-10.
1998: Gabriella Silvestri; Michele Rana; A DiMuzio; A Uncini; Pietro Tonali; Serenella Servidei
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.
Neuromuscular disorders : NMD 1998;8(5):291-5.
1998: Vincenzo Di Lazzaro; Domenico Restuccia; Serenella Servidei; Raffaele Nardone; Antonio Oliviero; Paolo Profice; Fortunato Mangiola; Pietro Tonali; John C Rothwell
Functional involvement of cerebral cortex in Duchenne muscular dystrophy.
Muscle & nerve 1998;21(5):662-4.
1998: Mario Sabatelli; T Mignogna; G Lippi; Serenella Servidei; M Zollino; Luca Padua; M Lo Monaco; L De Armas; M L Mereu; Pietro Tonali
Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.
American journal of medical genetics 1998;75(3):309-13.
1998: Federica Sangiuolo; Annalisa Botta; A Mesoraca; Serenella Servidei; Luciano Merlini; G Fratta; Giuseppe Novelli; Bruno Dallapiccola
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Human mutation 1998;11(4):331.
1997: A M S Lezza; Antonella Cormio; P Gerardi; G Silvestri; Serenella Servidei; Luigi Serlenga; Palmiro Cantatore; Maria Nicola Gadaleta
Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy.
FEBS letters 1997;418(1-2):167-70.
1997: Girolamo Di Trapani; B Gregori; Serenella Servidei; Enzo Ricci; Mario Sabatelli; Pietro Tonali
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Clinical neuropathology 1997;16(4):195-200.
1997: Vincenzo Di Lazzaro; Domenico Restuccia; Serenella Servidei; M Valeriani; Raffaele Nardone; G Manfredi; G Silvestri; E Ricci; Pietro Tonali
Functional involvement of central nervous system in mitochondrial disorders.
Electroencephalography and clinical neurophysiology 1997;105(3):171-80.
1997: Amelia Morrone; E Zammarchi; PC Scacheri; Maria Alice Donati; R C Hoop; Serenella Servidei; Giuliana Galluzzi; Eric Hoffman
Asymptomatic dystrophinopathy.
American journal of medical genetics 1997;69(3):261-7.
1997: Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; E Zachara; Enzo Ricci; Pietro Tonali
Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).
Muscle & nerve 1997;20(2):221-5.
1997: G Fouad; M Dalakas; Serenella Servidei; Jerry R Mendell; P Y K Van Den Bergh; Corrado Angelini; K Alderson; Robert C Griggs; Rabi Tawil; R Gregg; K Hogan; P A Powers; N Weinberg; W Malonee; Louis J Ptácek
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.
Neuromuscular disorders : NMD 1997;7(1):33-8.
1996: Amelia Evoli; Anna Paola Batocchi; Mauro Lo Monaco; Serenella Servidei; Luca Padua; L Majolini; P Tonali
Clinical heterogeneity of seronegative myasthenia gravis.
Neuromuscular disorders : NMD 1996;6(3):155-61.
1996: G Silvestri; Serenella Servidei; Michele Rana; Enzo Ricci; antonella spinazzola; E Paris; P Tonali
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.
Biochemical and biophysical research communications 1996;220(3):623-7.
1996: R Massa; Raffaele Lodi; B Barbiroli; Serenella Servidei; G Sancesario; G Manfredi; P Zaniol; Giorgio Bernardi
Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathy.
Acta neuropathologica 1996;91(3):322-9.
1995: C Mariotti; N Savarese; A Suomalainen; M Rimoldi; G Comi; A Prelle; Carlo Antozzi; Serenella Servidei; L Jarre; S DiDonato; M Zeviani
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.
Journal of neurology 1995;242(5):304-12.
1995: Antonino Uncini; Raffaele Lodi; Antonio Di Muzio; G Silvestri; Serenella Servidei; Alessandra Lugaresi; Stefano Iotti; P Zaniol; Bruno Barbiroli
Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine.
Journal of the neurological sciences 1995;129(2):214-22.
1995: Anna Paola Batocchi; Amelia Evoli; Serenella Servidei; M T Palmisani; F Apollo; P Tonali
Myasthenia gravis during interferon alfa therapy.
Neurology 1995;45(2):382-3.
1994: S Cacurri; G Deidda; N Piazzo; Andrea Novelletto; I La Cesa; Serenella Servidei; Giuliana Galluzzi; C Wijmenga; R R Frants; Luciano Felicetti
Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).
Human genetics 1994;94(4):367-74.
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.
1994: Enrico Bertini; G Salviati; F Apollo; Enzo Ricci; Serenella Servidei; A Broccolini; M Papacci; P Tonali
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings.
Acta neuropathologica 1994;87(1):106-12.
1994: Mario Sabatelli; T Mignogna; G Lippi; Serenella Servidei; G Manfredi; Enzo Ricci; Enrico Bertini; Mauro Lo Monaco; P Tonali
Autosomal recessive hypermyelinating neuropathy.
Acta neuropathologica 1994;87(4):337-42.
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.
1992: M R Mazziotta; Enzo Ricci; Enrico Bertini; C D Vici; Serenella Servidei; Alberto Burlina; Gaetano Sabetta; A Bartuli; G Manfredi; G Silvestri
Fatal infantile liver failure associated with mitochondrial DNA depletion.
The Journal of pediatrics 1992;121(6):896-901.
1992: Domenico Restuccia; V Di Lazzaro; Serenella Servidei; C Colosimo; P Tonali
Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study.
Journal of the neurological sciences 1992;112(1-2):139-46.
1992: Mario Sabatelli; Enrico Bertini; Serenella Servidei; E Fernandez; S Magi; P Tonali
Giant axonal neuropathy: report on a case with focal fiber loss.
Acta neuropathologica 1992;83(5):543-6.
1991: Serenella Servidei; Massimo Zeviani; G Manfredi; Enzo Ricci; G Silvestri; E Bertini; Cinzia Gellera; S Di Mauro; Stefano Di Donato; P Tonali
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.
Neurology 1991;41(7):1053-9.
1991: Enrico Bertini; C Bosman; Enzo Ricci; Serenella Servidei; R Boldrini; Mario Sabatelli; G Salviati
Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.
Acta neuropathologica 1991;81(6):632-40.
1990: Massimo Zeviani; Nereo Bresolin; Cinzia Gellera; Andreina Bordoni; M Pannacci; P Amati; M Moggio; Serenella Servidei; Guglielmo Scarlato; S DiDonato
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
American journal of human genetics 1990;47(6):904-14.
1990: Massimo Zeviani; Cinzia Gellera; M Pannacci; Graziella Uziel; A Prelle; Serenella Servidei; S DiDonato
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
Annals of neurology 1990;28(1):94-7.
1989: Massimo Zeviani; Serenella Servidei; Cinzia Gellera; E Bertini; S DiMauro; S DiDonato
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Nature 1989;339(6222):309-11.
1988: Enzo Ricci; Enrico Bertini; R Boldrini; Mario Sabatelli; Serenella Servidei; M R Mazziotta; C Bosman; P Tonali
Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.
American journal of medical genetics 1988;31(4):933-42.