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PICTURE
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Muscular Diseases and Neuromuscular Junction Diseases

Staff

Contacts

Activity

The group operates mainly in translational and clinical research in the field of skeletal muscle diseases and neuromuscular junction diseases, both acquired (idiopathic inflammatory myopathies, toxic myopathies), and genetically determined (genotype-phenotype correlation, new therapeutic approaches, biomarkers, scales of functional evaluation), both locally and in collaboration with national and international networks.

The group conducts observational studies and therapeutic studies on adult, young and child patients (from 4 y.o. onwards), in collaboration with the Child Neuropsychiatry Unit. Another research area ​​is the validation of protocols regarding the Standards of care for each considered diseases.

A part of the research is carried out at the Laboratory for Neuromuscular Diseases, attached to the SC Neurology 1 (Level III recognized by the Italian Association of Myology), which conducts diagnostic studies of biopsies of muscle tissue, peripheral nerve and skin; histochemistry, immunohistochemistry and  biochemistry (tissue, platelets or lymphocytes, plasma) tests are carried out.

 

Ongoing researches:

- Progressive muscular dystrophies: dystrophinopathies (Duchenne and Becker), girdle dystrophies, facio-scapulo-humeral dystrophy

- Congenital myopathies: Central Core, nemaline myopathy, Centronuclear myopathy, myofibrillar myopathies

- Channelopathies: myopathies from dysfunction of the chloride, sodium and calcium channel; type 1 and 2 myotonic dystrophy

- Tri-or tetranucleotide repeat disorders; Myotonic dystrophy type 1 and 2, oculopharyngeal dystrophy

- Metabolic myopathies: muscle glycogen storage disease/muscle glycogenosis, mitochondrial disorders .

 

Research projects:

- Validation of new outcome measures for spinal muscular atrophy (SMA) - Partner, Special Project Foundation Telethon / SMA Families

- National Database for muscle glycogen storage diseases- Partner, Foundation Telethon

- Preclinical evaluation of pharmacogenetics and new therapeutic options in non-dystrophic myotonias toward personalized medicine - Collaborating Centre, Foundation Telethon

- Facio-scapulo-humeral Muscular dystrophy: validation of a new board for the genotype-phenotype connection - Partner, Foundation Telethon

- National Register for myotonic dystrophy type 1 and 2 - Partner, Ministry of Health

- International therapeutic Study FOR-DMD on steroids therapy in Duchenne dystrophy - Partner, NIH and TREAT-NMD

- Natural history and biomarkers in glycogen storage disease type II – Genzyme, Italy

 

Group’s ECR Sectors:

LS4_5 - Metabolism, biological basis of metabolism related disorders

LS5_11 - Neurological disorders (e.g. Alzheimer's disease, Huntington's disease, Parkinson's disease)

LS7_2 - Diagnostic tools (e.g. genetic, imaging)

LS7_8 - Health services, health care research

Publications

L. Vercelli, V. Ponzalino, S. Bortolani, E. Vittonatto, S. Boschi, L. Chiadò-Piat, T Mongini. Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). http://hdl.handle.net/2318/153418

Mancuso M,Orsucci D,Angelini C,Bertini E,Catteruccia M,Pegoraro E,Carelli V,Valentino ML,Comi GP,Minetti C,Bruno C,Moggio M,Ienco EC,Mongini T,Vercelli L,Primiano G,Servidei S,Tonin P,Scarpelli M,Toscano A,Musumeci O,Moroni I,Uziel G,Santorelli FM,Nesti C,Filosto M,Lamperti C,Zeviani M,Siciliano G
Myoclonus in mitochondrial disorders. http://hdl.handle.net/2318/146961

Pane M,Mazzone ES,Fanelli L,De Sanctis R,Bianco F,Sivo S,D'Amico A,Messina S,Battini R,Scutifero M,Petillo R,Frosini S,Scalise R,Vita G,Bruno C,Pedemonte M,Mongini T,Pegoraro E,Brustia F,Gardani A,Berardinelli A,Lanzillotta V,Viggiano E,Cavallaro F,Sframeli M,Bello L,Barp A,Bonfiglio S,Rolle E,Colia G,Catteruccia M,Palermo C,D'Angelo G,Pini A,Iotti E,Gorni K,Baranello G,Morandi L,Bertini E,Politano L,Sormani M,Mercuri E:  Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. http://hdl.handle.net/2318/146948

Pane M,Mazzone ES,Sormani MP,Messina S,Vita GL,Fanelli L,Berardinelli A,Torrente Y,D'Amico A,Lanzillotta V,Viggiano E,D'Ambrosio P,Cavallaro F,Frosini S,Bello L,Bonfiglio S,Scalise R,De Sanctis R,Rolle E,Bianco F,Van der Haawue M,Magri F,Palermo C,Rossi F,Donati MA,Alfonsi C,Sacchini M,Arnoldi MT,Baranello G,Mongini T,Pini A,Battini R,Pegoraro E,Previtali SC,Napolitano S,Bruno C,Politano L,Comi GP,Bertini E,Morandi L,Gualandi F,Ferlini A,Goemans N,Mercuri E: 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes.
http://hdl.handle.net/2318/146958

Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. : 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. http://hdl.handle.net/2318/146944

Maggi L,D'Amico A,Pini A,Sivo S,Pane M,Ricci G,Vercelli L,D'Ambrosio P,Travaglini L,Sala S,Brenna G,Kapetis D,Scarlato M,Pegoraro E,Ferrari M,Toscano A,Benedetti S,Bernasconi P,Colleoni L,Lattanzi G,Bertini E,Mercuri E,Siciliano G,Rodolico C,Mongini T,Politano L,Previtali SC,Carboni N,Mantegazza R,Morandi L:  LMNA-associated myopathies: the Italian experience in a large cohort of patients. http://hdl.handle.net/2318/153395

Pane M,Mazzone ES,Sivo S,Sormani MP,Messina S,D Amico A,Carlesi A,Vita G,Fanelli L,Berardinelli A,Torrente Y,Lanzillotta V,Viggiano E,D Ambrosio P,Cavallaro F,Frosini S,Barp A,Bonfiglio S,Scalise R,De Sanctis R,Rolle E,Graziano A,Magri F,Palermo C,Rossi F,Donati MA,Sacchini M,Arnoldi MT,Baranello G,Mongini T,Pini A,Battini R,Pegoraro E,Previtali S,Bruno C,Politano L,Comi GP,Bertini E,Mercuri E:  Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. http://hdl.handle.net/2318/153394

Esposito S,Bruno C,Berardinelli A,Filosto M,Mongini T,Morandi L,Musumeci O,Pegoraro E,Siciliano G,Tonin P,Marrosu G,Minetti C,Servida M,Fiorillo C,Conforti G,Scapolan S,Ansaldi F,Vianello A,Castaldi S,Principi N,Toscano A,Moggio M : Vaccination recommendations for patients with neuromuscular disease. http://hdl.handle.net/2318/153393

De Filippi P,Saeidi K,Ravaglia S,Dardis A,Angelini C,Mongini T,Morandi L,Moggio M,Di Muzio A,Filosto M,Bembi B,Giannini F,Marrosu G,Rigoldi M,Tonin P,Servidei S,Siciliano G,Carlucci A,Scotti C,Comelli M,Toscano A,Danesino C: Genotype-phenotype correlation in Pompe disease, a step forward. http://hdl.handle.net/2318/153392

Ricci G,Scionti I,Sera F,Govi M,D'Amico R,Frambolli I,Mele F,Filosto M,Vercelli L,Ruggiero L,Berardinelli A,Angelini C,Antonini G,Bucci E,Cao M,Daolio J,Di Muzio A,Di Leo R,Galluzzi G,Iannaccone E,Maggi L,Maruotti V,Moggio M,Mongini T,Morandi L,Nikolic A,Pastorello E,Ricci E,Rodolico C,Santoro L,Servida M,Siciliano G,Tomelleri G,Tupler R:  Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. http://hdl.handle.net/2318/138837

Vianello A,Semplicini C,Paladini L,Concas A,Ravaglia S,Servidei S,Toscano A,Mongini T,Angelini C,Pegoraro E:  Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency. http://hdl.handle.net/2318/138838

Mancuso M,Orsucci D,Angelini C,Bertini E,Carelli V,Comi GP,Minetti C,Moggio M,Mongini T,Servidei S,Tonin P,Toscano A,Uziel G,Bruno C,Ienco EC,Filosto M,Lamperti C,Martinelli D,Moroni I,Musumeci O,Pegoraro E,Ronchi D,Santorelli FM,Sauchelli D,Scarpelli M,Sciacco M,Spinazzi M,Valentino ML,Vercelli L,Zeviani M,Siciliano G: Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.http://hdl.handle.net/2318/131554

Kyriakides T,Angelini C,S chaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA,Vissing J, de Visser M, Hilton-Jones D: EFNS review on the role of muscle biopsy in the investigation of myalgia. http://hdl.handle.net/2318/133672

Spada M,Porta F,Vercelli L,Pagliardini V,Chiadò-Piat L,Boffi P,Pagliardini S,Remiche G,Ronchi D,Comi G,Mongini T: Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. http://hdl.handle.net/2318/131555

Caroppo P, D'Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T.: Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.
http://hdl.handle.net/2318/129717

Tiziano FD,Lomastro R,Di Pietro L,Barbara Pasanisi M,Fiori S,Angelozzi C,Abiusi E,Angelini C,Sorarù G,Gaiani A,Mongini T,Vercelli L,Vasco G,Vita G,Luca Vita G,Messina S,Politano L,Passamano L,Di Gregorio G,Montomoli C,Orsi C,Campanella A,Mantegazza R,Morandi L: Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. http://hdl.handle.net/2318/128113

Mancuso M,Orsucci D,Angelini C,Bertini E,Carelli V,Comi GP,Donati A,Minetti C,Moggio M,Mongini T,Servidei S,Tonin P,Toscano A,Uziel G,Bruno C,Ienco EC,Filosto M,Lamperti C,Catteruccia M,Moroni I,Musumeci O,Pegoraro E,Ronchi D,Santorelli FM,Sauchelli D,Scarpelli M,Sciacco M,Valentino ML,Vercelli L,Zeviani M,Siciliano G:  The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? http://hdl.handle.net/2318/146942

Racca F,Mongini T,Wolfler A,Vianello A,Cutrera R,Del Sorbo L,Capello EC,Gregoretti C,Massa R,De Luca D,Conti G,Tegazzin V,Toscano A,Ranieri VM:  Recommendations for anesthesia and perioperative management of patients with neuromuscular disorders. http://hdl.handle.net/2318/133459

Alberto Lerario,Serena Bonfiglio,MariaPia Sormani,Andrea Tettamanti,Sarah Marktel,Sara Napolitano,Stefano Previtali,Marina Scarlato,MariaGrazia Natali-Sora,Eugenio Mercuri,Nereo Bresolin,Tiziana Mongini,Giancarlo Comi,Roberto Gatti,Fabio Ciceri,Giulio Cossu,Yvan Torrente: Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures http://hdl.handle.net/2318/127610

Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A, Italian Group on GSDII:  New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. http://hdl.handle.net/2318/128137

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.: Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype http://hdl.handle.net/2318/128179

Olimpia Musumeci,Claudio Bruno,Tiziana Mongini,Carmelo Rodolico,M?hammed Aguennouz,Emanuele Barca,Angela Amati,Denise Cassandrini,Luigi Serlenga,Giuseppe Vita,Antonio Toscano
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). http://hdl.handle.net/2318/128366

Siciliano G,Mongini T,Toscano A:  Muscle fatigue in neuromuscular disorders: Pathogenic mechanisms and treatment. http://hdl.handle.net/2318/129336

Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A and Italian GSDII Group.: Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years http://hdl.handle.net/2318/130427

T. Mongini, L. Vercelli:  *ERT in the adult form of type 2 glycogenosis* http://hdl.handle.net/2318/132991

Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M.: The empowerment of translational research: lessons from laminopathies http://hdl.handle.net/2318/132993

Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G, Nation-wide Italian Collaborative Network of Mitochondrial Diseases: Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. http://hdl.handle.net/2318/130849 

Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E.
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy http://hdl.handle.net/2318/129910

L. Vercelli, E. Vittonatto , S. Grifoni, L. Chiado-Piat, M. Spada, C. Danesino, G. Comi, T. Mongini. Symptomatic heterozygous patients in late-onset glycogen storage disease type 2.  http://hdl.handle.net/2318/153641

Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G and INQoL Group (Panzer M, Angelini C, Palmieri A, Siciliano G, Volpi L, Falorni M, Mongini T, Vercelli L, Politano L, Tozza S, Solimene C, Massa R, Panico MB, Pisani V, Grandi M, Toscano A, Musumeci O, Rodolico C:  Measuring quality of life impairment in skeletal muscle channelopathies.
http://hdl.handle.net/2318/132479

Last update: 21/08/2015 15:12
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