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Items: 1 to 50 of 249

1.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J.

Hum Mutat. 2019 Aug 26. doi: 10.1002/humu.23899. [Epub ahead of print]

PMID:
31448844
2.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

3.

Immune-mediated necrotizing myopathy due to statins exposure.

Villa L, Lerario A, Calloni S, Peverelli L, Matinato C, DE Liso F, Ceriotti F, Tironi R, Sciacco M, Moggio M, Triulzi F, Cinnante C.

Acta Myol. 2018 Dec 1;37(4):257-262. eCollection 2018 Dec.

4.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16.

PMID:
30879255
5.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

6.

Value of structured reporting in neuromuscular disorders.

Alessandrino F, Cristiano L, Cinnante CM, Tartaglione T, Gerevini S, Verdolotti T, Colafati GS, Ghione E, Vitale R, Peverelli L, Brogna C, Berardinelli A, Moggio M, Mercuri EM, Pichiecchio A.

Radiol Med. 2019 Jul;124(7):628-635. doi: 10.1007/s11547-019-01012-0. Epub 2019 Mar 9.

PMID:
30852791
7.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
8.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
9.

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.

Gibertini S, Ruggieri A, Saredi S, Salerno F, Blasevich F, Napoli L, Moggio M, Nigro V, Morandi L, Maggi L, Mora M.

Acta Neuropathol Commun. 2018 Dec 19;6(1):141. doi: 10.1186/s40478-018-0648-4. No abstract available.

10.

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Sottnik JL, Mallaredy V, Chauca-Diaz A, Ritterson Lew C, Owens C, Dancik GM, Pagliarani S, Lucchiari S, Moggio M, Ripolone M, Comi GP, Frierson HF, Clouthier D, Theodorescu D.

Carcinogenesis. 2019 Mar 12;40(1):194-201. doi: 10.1093/carcin/bgy139.

PMID:
30403777
11.

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Borsani O, Piga D, Costa S, Govoni A, Magri F, Artoni A, Cinnante CM, Fagiolari G, Ciscato P, Moggio M, Bresolin N, Comi GP, Corti S.

Front Neurol. 2018 Oct 15;9:859. doi: 10.3389/fneur.2018.00859. eCollection 2018.

12.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V.

Genes (Basel). 2018 Oct 26;9(11). pii: E524. doi: 10.3390/genes9110524.

13.

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease.

Baiardi S, Redaelli V, Ripellino P, Rossi M, Franceschini A, Moggio M, Sola P, Ladogana A, Fociani P, Magherini A, Capellari S, Giese A, Caughey B, Caroppo P, Parchi P.

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):424-427. doi: 10.1136/jnnp-2018-319221. Epub 2018 Oct 24.

PMID:
30355606
14.

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.

Civiletto G, Dogan SA, Cerutti R, Fagiolari G, Moggio M, Lamperti C, Benincá C, Viscomi C, Zeviani M.

EMBO Mol Med. 2018 Nov;10(11). pii: e8799. doi: 10.15252/emmm.201708799.

15.

The clinical spectrum of CASQ1-related myopathy.

Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E.

Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26.

16.

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 GP, Moggio M, Sciacco M.

J Neurosci Res. 2018 Sep;96(9):1576-1585. doi: 10.1002/jnr.24263.

17.

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 GP.

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3407-3417. doi: 10.1016/j.bbadis.2018.07.031. Epub 2018 Aug 1.

18.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.

Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9.

PMID:
29880332
19.

Rhabdomyolysis-Associated Acute Kidney Injury.

Esposito P, Estienne L, Serpieri N, Ronchi D, Comi GP, Moggio M, Peverelli L, Bianzina S, Rampino T.

Am J Kidney Dis. 2018 Jun;71(6):A12-A14. doi: 10.1053/j.ajkd.2018.03.009. No abstract available. Erratum in: Am J Kidney Dis. 2018 Sep;72(3):468.

20.

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.

Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A.

Clin Neuropathol. 2018 Jul/Aug;37(4):196-198. doi: 10.5414/NP301101. No abstract available.

PMID:
29792396
21.

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP.

Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13.

PMID:
29759638
22.

Expanding the histopathological spectrum of CFL2-related myopathies.

Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A.

Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25.

PMID:
29457652
23.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899.

24.

Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life.

Cucchiari D, Colombo I, Amato O, Podestà MA, Reggiani F, Valentino R, Faravelli I, Testolin S, Moggio M, Badalamenti S.

CEN Case Rep. 2018 May;7(1):62-65. doi: 10.1007/s13730-017-0292-z. Epub 2017 Dec 12.

25.

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Ronchi D, Piga D, Lamberti S, Sciacco M, Corti S, Moggio M, Bresolin N, Pietro Comi G.

Brain. 2018 Jan 1;141(1):e4. doi: 10.1093/brain/awx302. No abstract available.

26.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.

PMID:
29029362
27.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

28.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
29.

Nutritional Challenges in Duchenne Muscular Dystrophy.

Salera S, Menni F, Moggio M, Guez S, Sciacco M, Esposito S.

Nutrients. 2017 Jun 10;9(6). pii: E594. doi: 10.3390/nu9060594. Review.

30.

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, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):449-462. doi: 10.1111/nan.12414. Epub 2017 Jul 4.

31.

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.

D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A, Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E.

Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14.

32.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Mancuso M, Orsucci D, Angelini C, Bertini E, Bruno C, Carelli V, Comi GP, Filosto M, Lamperti C, Moggio M, Mongini T, Moroni I, Tonin P, Toscano A, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2017 Apr;27(4):e1. doi: 10.1016/j.nmd.2017.01.003. Epub 2017 Feb 8. No abstract available.

PMID:
28189480
33.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.

PMID:
28058752
34.

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 MT, Puri PL, Latella L, Clementi E, De Palma C.

Cell Rep. 2016 Dec 13;17(11):3010-3023. doi: 10.1016/j.celrep.2016.11.044.

35.

A case report with the peculiar concomitance of 2 different genetic syndromes.

Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.

Medicine (Baltimore). 2016 Dec;95(49):e5567. Review.

36.

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. Epub 2016 Oct 28.

37.

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M.

Orphanet J Rare Dis. 2016 Oct 24;11(1):142.

38.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

39.

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

Ferrara AM, Sciacco M, Zovato S, Rizzati S, Colombo I, Boaretto F, Moggio M, Opocher G.

Cancer Res Treat. 2016 Oct;48(4):1438-1442. Epub 2016 Mar 25.

40.

Histological effects of givinostat in boys with Duchenne muscular dystrophy.

Bettica P, Petrini S, D'Oria V, D'Amico A, Catteruccia M, Pane M, Sivo S, Magri F, Brajkovic S, Messina S, Vita GL, Gatti B, Moggio M, Puri PL, Rocchetti M, De Nicolao G, Vita G, Comi GP, Bertini E, Mercuri E.

Neuromuscul Disord. 2016 Oct;26(10):643-649. doi: 10.1016/j.nmd.2016.07.002. Epub 2016 Jul 11.

41.

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, Sampaolo 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. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084. Neurology. 2019 Aug 20;93(8):371.

42.

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Onesto E, Colombrita C, Gumina V, Borghi MO, Dusi S, Doretti A, Fagiolari G, Invernizzi F, Moggio M, Tiranti V, Silani V, Ratti A.

Acta Neuropathol Commun. 2016 May 5;4(1):47. doi: 10.1186/s40478-016-0316-5.

43.

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. Epub 2016 Apr 28.

44.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP.

J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22.

PMID:
27105866
45.

"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. Epub 2016 Feb 23.

46.

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.

47.

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
48.

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. Epub 2015 Oct 23.

49.

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

Pichiecchio A, Berardinelli A, Moggio M, Rossi M, Balottin U, Comi GP, Bastianello S.

Muscle Nerve. 2016 Feb;53(2):326-7. doi: 10.1002/mus.24936. Epub 2015 Nov 26. No abstract available.

50.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Neurol. 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8.

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