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Items: 1 to 20 of 141

1.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP.

Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192.

PMID:
27184587
2.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.

Am J Hum Genet. 2016 Sep 1;99(3):753-61. doi: 10.1016/j.ajhg.2016.06.033.

PMID:
27569547
3.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies..

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

4.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800.

5.

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R.

J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2.

6.

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G.

Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008.

PMID:
27020842
7.

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E.

PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445.

8.

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

Messina S, Vita GL, Sframeli M, Mondello S, Mazzone E, D'Amico A, Berardinelli A, La Rosa M, Bruno C, Distefano MG, Baranello G, Barcellona C, Scutifero M, Marcato S, Palmieri A, Politano L, Morandi L, Mongini T, Pegoraro E, D'Angelo MG, Pane M, Rodolico C, Minetti C, Bertini E, Vita G, Mercuri E.

Neuromuscul Disord. 2016 Mar;26(3):189-96. doi: 10.1016/j.nmd.2016.01.003.

9.

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.

Nikolic A, Ricci G, Sera F, Bucci E, Govi M, Mele F, Rossi M, Ruggiero L, Vercelli L, Ravaglia S, Brisca G, Fiorillo C, Villa L, Maggi L, Cao M, D'Amico MC, Siciliano G, Antonini G, Santoro L, Mongini T, Moggio M, Morandi L, Pegoraro E, Angelini C, Di Muzio A, Rodolico C, Tomelleri G, Grazia D'Angelo M, Bruno C, Berardinelli A, Tupler R.

BMJ Open. 2016 Jan 5;6(1):e007798. doi: 10.1136/bmjopen-2015-007798.

10.

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.

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.

PLoS One. 2015 Dec 4;10(12):e0144079. doi: 10.1371/journal.pone.0144079. No abstract available.

11.

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. No abstract available.

PMID:
26566910
12.

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy.

Peverelli L, Testolin S, Villa L, D'Amico A, Petrini S, Favero C, Magri F, Morandi L, Mora M, Mongini T, Bertini E, Sciacco M, Comi GP, Moggio M.

Neurology. 2015 Nov 24;85(21):1886-93. doi: 10.1212/WNL.0000000000002147.

13.

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.

Pane M, Fanelli L, Mazzone ES, Olivieri G, D'Amico A, Messina S, Scutifero M, Battini R, Petillo R, Frosini S, Sivo S, Vita GL, Bruno C, Mongini T, Pegoraro E, De Sanctis R, Gardani A, Berardinelli A, Lanzillotta V, Carlesi A, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bianco F, Bonfiglio S, Rolle E, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E.

Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009.

14.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A.

J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9.

PMID:
25957634
15.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Erratum in: J Neurol. 2015 Dec;262(12):2800.

PMID:
25808502
16.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group..

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164.

PMID:
25783438
17.

Prevalence of congenital muscular dystrophy in Italy: a population study.

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303.

18.

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys.

Pane M, Mazzone ES, Sivo S, Fanelli L, De Sanctis R, D'Amico A, Messina S, Battini R, Bianco F, Scutifero M, Petillo R, Frosini S, Scalise R, Vita GL, 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, Busato F, Bonfiglio S, Rolle E, Colia G, Bonetti A, Palermo C, Graziano A, D'Angelo G, Pini A, Corlatti A, Gorni K, Baranello G, Antonaci L, Bertini E, Politano L, Mercuri E.

PLoS Curr. 2014 Oct 7;6. pii: ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6.

19.

Early Recognition of Late-Onset Pompe Disease by Skeletal Muscle Signs and Symptoms.

Mongini T, Vercelli L, Ponzalino V, Bortolani S.

J Neuromuscul Dis. 2015;2(s1):S2. No abstract available.

PMID:
27858600
20.

Foreword.

Mongini T, Toscano A.

J Neuromuscul Dis. 2015;2(s1):Si-Sii. No abstract available.

PMID:
27858598
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