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Items: 1 to 50 of 69

1.

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
2.

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Maggi L, Ravaglia S, Farinato A, Brugnoni R, Altamura C, Imbrici P, Camerino DC, Padovani A, Mantegazza R, Bernasconi P, Desaphy JF, Filosto M.

Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9.

PMID:
28993909
3.

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Pichiecchio A, Sacco S, De Filippi P, Caverzasi E, Ravaglia S, Bastianello S, Danesino C.

J Neurol. 2017 Oct;264(10):2110-2118. doi: 10.1007/s00415-017-8601-1. Epub 2017 Aug 30.

PMID:
28856460
4.

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Bottani E, Cerutti R, Harbour ME, Ravaglia S, Dogan SA, Giordano C, Fearnley IM, D'Amati G, Viscomi C, Fernandez-Vizarra E, Zeviani M.

Mol Cell. 2017 Jul 6;67(1):96-105.e4. doi: 10.1016/j.molcel.2017.06.001. Epub 2017 Jun 29.

5.

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.

6.

Diagnosis and therapy of acute disseminated encephalomyelitis and its variants.

Berzero G, Cortese A, Ravaglia S, Marchioni E.

Expert Rev Neurother. 2016;16(1):83-101. doi: 10.1586/14737175.2015.1126510. Epub 2015 Dec 22. Review.

PMID:
26620160
7.

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. Epub 2015 Mar 17.

PMID:
25783438
8.

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry.

Angelini C, Bembi B, Burlina A, Filosto M, Maioli MA, Morandi LO, Parini R, Pegoraro E, Ravaglia S, Servidei S, Toscano A, Tugnoli V.

J Neuromuscul Dis. 2015;2(s1):S36-S37. No abstract available.

PMID:
27858631
9.

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease.

Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P.

J Neuromuscul Dis. 2015;2(s1):S13. No abstract available.

PMID:
27858611
10.

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.

Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P.

J Clin Endocrinol Metab. 2015 Feb;100(2):401-6. doi: 10.1210/jc.2014-2763. Epub 2014 Nov 14.

PMID:
25396301
11.

Genotype-phenotype correlation in Pompe disease, a step forward.

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.

Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z.

12.

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

Parenti G, Fecarotta S, la Marca G, Rossi B, Ascione S, Donati MA, Morandi LO, Ravaglia S, Pichiecchio A, Ombrone D, Sacchini M, Pasanisi MB, De Filippi P, Danesino C, Della Casa R, Romano A, Mollica C, Rosa M, Agovino T, Nusco E, Porto C, Andria G.

Mol Ther. 2014 Nov;22(11):2004-12. doi: 10.1038/mt.2014.138. Epub 2014 Jul 23.

13.

Systemic growth of F. graminearum in wheat plants and related accumulation of deoxynivalenol.

Moretti A, Panzarini G, Somma S, Campagna C, Ravaglia S, Logrieco AF, Solfrizzo M.

Toxins (Basel). 2014 Apr 10;6(4):1308-24. doi: 10.3390/toxins6041308.

14.

Spinal hemorrhage in eosinophilic granulomatosis with polyangiitis (Churg-Strauss).

Diamanti L, Berzero G, Bini P, Ravaglia S, Rognone E, Cavagna L, Marchioni E.

J Neurol. 2014 Feb;261(2):438-40. doi: 10.1007/s00415-013-7217-3. Epub 2013 Dec 25. No abstract available.

PMID:
24368404
15.

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

Vianello A, Semplicini C, Paladini L, Concas A, Ravaglia S, Servidei S, Toscano A, Mongini T, Angelini C, Pegoraro E.

Lung. 2013 Oct;191(5):537-44. doi: 10.1007/s00408-013-9489-x. Epub 2013 Jul 10.

PMID:
23839583
16.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M.

Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66.

17.

Electrophysiological patterns of oropharyngeal swallowing in multiple sclerosis.

Alfonsi E, Bergamaschi R, Cosentino G, Ponzio M, Montomoli C, Restivo DA, Brighina F, Ravaglia S, Prunetti P, Bertino G, Benazzo M, Fontana D, Moglia A.

Clin Neurophysiol. 2013 Aug;124(8):1638-45. doi: 10.1016/j.clinph.2013.03.003. Epub 2013 Apr 16.

PMID:
23601703
18.

Postinfectious neurologic syndromes: a prospective cohort study.

Marchioni E, Ravaglia S, Montomoli C, Tavazzi E, Minoli L, Baldanti F, Furione M, Alfonsi E, Bergamaschi R, Romani A, Piccolo L, Zardini E, Bastianello S, Pichiecchio A, Ferrante P, Delbue S, Franciotta D, Bono G, Ceroni M.

Neurology. 2013 Mar 5;80(10):882-9. doi: 10.1212/WNL.0b013e3182840b95. Epub 2013 Jan 16.

PMID:
23325908
19.

Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.

Alejaldre A, Díaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Morís G, Muelas N, Vílchez JJ, García-Medina A, Usón M, Martínez García FA, Illa I, Pichiecchio A.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011.

PMID:
22980766
20.

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.

Musumeci O, Catalano N, Barca E, Ravaglia S, Fiumara A, Gangemi G, Rodolico C, Sorge G, Vita G, Galletti F, Toscano A.

Mol Genet Metab. 2012 Nov;107(3):480-4. doi: 10.1016/j.ymgme.2012.07.024. Epub 2012 Aug 17.

PMID:
22958975
21.

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

Ravaglia S, De Filippi P, Pichiecchio A, Ponzio M, Saeidi Garaghani K, Poloni GU, Bini P, Danesino C.

Mol Genet Metab. 2012 Sep;107(1-2):104-10. doi: 10.1016/j.ymgme.2012.05.016. Epub 2012 May 30.

PMID:
22704482
22.

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.

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.

Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340.

PMID:
22581536
23.

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

Invernizzi F, D'Amato I, Jensen PB, Ravaglia S, Zeviani M, Tiranti V.

Mitochondrion. 2012 Mar;12(2):328-35. doi: 10.1016/j.mito.2012.01.001. Epub 2012 Jan 28.

24.

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

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; Italian GSDII Group.

J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12.

PMID:
22081099
25.

Galanin and α-MSH autoantibodies in cerebrospinal fluid of patients with Alzheimer's disease.

Costa A, Bini P, Hamze-Sinno M, Moglia A, Franciotta D, Sinforiani E, Ravaglia S, Bole-Feysot C, Hökfelt T, Déchelotte P, Fetissov SO.

J Neuroimmunol. 2011 Dec 15;240-241:114-20. doi: 10.1016/j.jneuroim.2011.10.003. Epub 2011 Nov 10.

PMID:
22078238
26.

Ptosis in Pompe disease: common genetic background in infantile and adult series.

Ravaglia S, Bini P, Garaghani KS, Danesino C.

J Neuroophthalmol. 2010 Dec;30(4):389-90. doi: 10.1097/WNO.0b013e3181f9a923. No abstract available.

PMID:
21107130
27.

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.

Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni GU, Toscano A, Moglia A, Carlucci A, Bini P, Ceroni M, Bastianello S.

J Inherit Metab Dis. 2010 Dec;33(6):737-45. doi: 10.1007/s10545-010-9204-5. Epub 2010 Sep 16.

PMID:
20844963
28.

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S.

J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14.

PMID:
20838899
29.

Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI.

Ravaglia S, Carlucci A, Danesino C.

Mol Genet Metab. 2010 Aug;100(4):388. doi: 10.1016/j.ymgme.2010.04.005. Epub 2010 Apr 20. No abstract available.

PMID:
20472481
30.

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.

de Filippi P, Ravaglia S, Bembi B, Costa A, Moglia A, Piccolo G, Repetto A, Dardis A, Greco G, Ciana G, Canevari F, Danesino C.

Genet Med. 2010 Apr;12(4):206-11. doi: 10.1097/GIM.0b013e3181d2900e.

PMID:
20308911
31.

Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis.

Ravaglia S, Danesino C, Moglia A, Costa A, Cena H, Maccarini L, Carlucci A, Pichiecchio A, Bini P, De Filippi P, Rossi M.

Eur J Neurol. 2010 Jul;17(7):957-62. doi: 10.1111/j.1468-1331.2010.02959.x. Epub 2010 Feb 10.

PMID:
20158513
32.

Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?

Pichiecchio A, Poloni GU, Ravaglia S, Ponzio M, Germani G, Maranzana D, Costa A, Repetto A, Tavazzi E, Danesino C, Moglia A, Bastianello S.

Muscle Nerve. 2009 Jul;40(1):122-5. doi: 10.1002/mus.21304.

PMID:
19533640
33.

Combined central and peripheral demyelination: comparison of adult and pediatric series.

Ravaglia S, Tavazzi E, Moglia A, Ceroni M, Marchioni E.

Pediatr Neurol. 2009 Jul;41(1):77; author reply 77-8. doi: 10.1016/j.pediatrneurol.2009.03.001. No abstract available.

PMID:
19520285
34.

Presyrinx in children with Chiari malformations.

Ravaglia S, Moglia A, Bogdanov EI.

Neurology. 2009 Jun 2;72(22):1966-7. doi: 10.1212/01.wnl.0000346739.14495.e3. No abstract available.

PMID:
19487659
35.

Enzyme replacement therapy in late-onset type II glycogenosis.

Ravaglia S, Moglia A, Costa A, Repetto A, Danesino C.

Eur J Neurol. 2009 Jul;16(7):e125. doi: 10.1111/j.1468-1331.2009.02667.x. Epub 2009 May 14. No abstract available.

PMID:
19469831
36.

NMO-IgG-negative relapsing myelitis.

Ravaglia S, Bastianello S, Franciotta D, Ceroni M, Pichiecchio A, Tavazzi E, Moglia A, Marchioni E.

Spinal Cord. 2009 Jul;47(7):531-7. doi: 10.1038/sc.2008.157. Epub 2008 Dec 23.

PMID:
19104509
37.

Diagnosis of glycogenosis type II.

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A.

Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi: 10.1212/WNL.0b013e31818da91e. Review.

PMID:
19047572
38.

Management and treatment of glycogenosis type II.

Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A.

Neurology. 2008 Dec 2;71(23 Suppl 2):S12-36. doi: 10.1212/WNL.0b013e31818da93f. Review.

PMID:
19047571
39.

Cerebrospinal fluid levels of tau phosphorylated at threonine 181 in patients with Alzheimer's disease and vascular dementia.

Ravaglia S, Bini P, Sinforiani E, Franciotta D, Zardini E, Tosca P, Moglia A, Costa A.

Neurol Sci. 2008 Dec;29(6):417-23. doi: 10.1007/s10072-008-1023-1. Epub 2008 Nov 14.

PMID:
19011737
40.

Acute disseminated encephalomyelitis.

Marchioni E, Tavazzi E, Minoli L, Del Bue S, Ferrante P, Piccolo G, Bastianello S, Ravaglia S.

Neurol Sci. 2008 Sep;29 Suppl 2:S286-8. doi: 10.1007/s10072-008-0966-6. Review.

PMID:
18690521
41.

Immune-mediated neuropathies in myeloma patients treated with bortezomib.

Ravaglia S, Corso A, Piccolo G, Lozza A, Alfonsi E, Mangiacavalli S, Varettoni M, Zappasodi P, Moglia A, Lazzarino M, Costa A.

Clin Neurophysiol. 2008 Nov;119(11):2507-12. doi: 10.1016/j.clinph.2008.08.007. Epub 2008 Oct 1.

PMID:
18829381
42.

Varicella zoster virus meningo-encephalo-myelitis in an immunocompetent patient.

Tavazzi E, Minoli L, Ferrante P, Scagnelli P, Del Bue S, Romani A, Ravaglia S, Marchioni E.

Neurol Sci. 2008 Sep;29(4):279-83. doi: 10.1007/s10072-008-0982-6. Epub 2008 Sep 20.

43.

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.

Ravaglia S, Danesino C, Pichiecchio A, Repetto A, Poloni GU, Rossi M, Fratino P, Moglia A, Costa A.

Adv Ther. 2008 Aug;25(8):820-9. doi: 10.1007/s12325-008-0086-y.

PMID:
18704279
44.

Oligoclonal IgG band patterns in inflammatory demyelinating human and mouse diseases.

Franciotta D, Columba-Cabezas S, Andreoni L, Ravaglia S, Jarius S, Romagnolo S, Tavazzi E, Bergamaschi R, Zardini E, Aloisi F, Marchioni E.

J Neuroimmunol. 2008 Aug 30;200(1-2):125-8. doi: 10.1016/j.jneuroim.2008.06.004. Epub 2008 Jul 7.

PMID:
18606457
45.

Differential diagnosis between acute disseminated encephalomyelitis and multiple sclerosis during the first episode.

Tavazzi E, Ravaglia S, Franciotta D, Marchioni E.

Arch Neurol. 2008 May;65(5):676-7; author reply 677. doi: 10.1001/archneur.65.5.676-b. No abstract available.

PMID:
18474751
46.

Severe steroid-resistant post-infectious encephalomyelitis: general features and effects of IVIg.

Ravaglia S, Piccolo G, Ceroni M, Franciotta D, Pichiecchio A, Bastianello S, Tavazzi E, Minoli L, Marchioni E.

J Neurol. 2007 Nov;254(11):1518-23. Epub 2007 Nov 14.

PMID:
17965959
47.

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

Mariotti C, Alpini D, Fancellu R, Soliveri P, Grisoli M, Ravaglia S, Lovati C, Fetoni V, Giaccone G, Castucci A, Taroni F, Gellera C, Di Donato S.

J Neurol. 2007 Nov;254(11):1538-46. Epub 2007 Oct 15.

PMID:
17934876
48.

Recurrent ADEM versus MS: differential diagnostic criteria.

Marchioni E, Tavazzi E, Franciotta D, Ravaglia S.

Neurol Res. 2008 Feb;30(1):74. No abstract available.

PMID:
17711619
49.

Ptosis as a feature of late-onset glycogenosis type II.

Ravaglia S, Repetto A, De Filippi P, Danesino C.

Neurology. 2007 Jul 3;69(1):116; author reply 116. No abstract available.

PMID:
17606892
50.

Pathogenetic role of myelitis for syringomyelia.

Ravaglia S, Bogdanov EI, Pichiecchio A, Bergamaschi R, Moglia A, Mikhaylov IM.

Clin Neurol Neurosurg. 2007 Jul;109(6):541-6. Epub 2007 Apr 30.

PMID:
17467892

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