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Items: 1 to 50 of 70

1.

Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1".

Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G.

J Neurol Sci. 2019 May 24. pii: S0022-510X(19)30241-2. doi: 10.1016/j.jns.2019.05.025. [Epub ahead of print] No abstract available.

PMID:
31153591
2.

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
3.

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.

Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G.

J Neurol Sci. 2019 Apr 15;399:118-124. doi: 10.1016/j.jns.2019.02.012. Epub 2019 Feb 7.

PMID:
30798109
4.

Late onset of dropped head syndrome following mantle radiation therapy for Hodgkin lymphoma.

Di Stefano V, Attanasi C, Ferrante C, Di Muzio A.

BMJ Case Rep. 2018 Dec 14;11(1). pii: e226822. doi: 10.1136/bcr-2018-226822.

PMID:
30567263
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. Epub 2016 Apr 28.

6.

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.

7.

Critical Illness Neuromyopathy Complicating Akinetic Crisis in Parkinsonism: Report of 3 Cases.

Capasso M, De Angelis MV, Di Muzio A, Anzellotti F, Bonanni L, Thomas A, Onofrj M.

Medicine (Baltimore). 2015 Jul;94(28):e1118. doi: 10.1097/MD.0000000000001118.

8.

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
9.

A Case of Normal Pressure Hydrocephalus in Adult-Onset Pompe Disease.

D'Amico MC, Di Tommaso V, Di Giacomo R, Di Muzio A, Onofrj M.

J Neuromuscul Dis. 2015;2(s1):S14. No abstract available.

PMID:
27858612
10.

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.

Sechi A, Dardis A, Zampieri S, Rabacchi C, Zanoni P, Calandra S, De Maglio G, Pizzolitto S, Maruotti V, Di Muzio A, Platt F, Bembi B.

Orphanet J Rare Dis. 2014 Sep 18;9:143. doi: 10.1186/s13023-014-0143-3.

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.

Holmes-Like Tremor in Ataxia With Oculomotor Apraxia Type 2.

D'Amico MC, Borrelli I, Zhuzhuni H, D'Amico A, Di Giacomo R, Mancinelli L, di Tommaso V, Di Muzio A, Onofrj M.

Mov Disord Clin Pract. 2014 Jul 28;1(3):261-262. doi: 10.1002/mdc3.12070. eCollection 2014 Sep. No abstract available.

13.

Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management.

Evoli A, Liguori R, Romani A, Mantegazza R, Di Muzio A, Giometto B, Pegoraro E, Rodolico C, Vigliani MC; Italian Working Group on Myasthenic Syndromes.

Neurol Sci. 2014 Apr;35(4):515-20. doi: 10.1007/s10072-014-1637-4. Epub 2014 Jan 31. Review.

PMID:
24481713
14.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

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.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

15.

Acetyl-L-carnitine: from a biological curiosity to a drug for the peripheral nervous system and beyond.

Onofrj M, Ciccocioppo F, Varanese S, di Muzio A, Calvani M, Chiechio S, Osio M, Thomas A.

Expert Rev Neurother. 2013 Aug;13(8):925-36. doi: 10.1586/14737175.2013.814930. Review.

PMID:
23965166
16.

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R.

Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019.

17.

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.

Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L.

Clin Genet. 2010 Mar;77(3):298-301. doi: 10.1111/j.1399-0004.2009.01348.x. No abstract available.

PMID:
20447142
18.

Caveats in determining reference intervals for serum creatine kinase.

Capasso M, De Angelis MV, Di Muzio A, Uncini A.

Am Heart J. 2008 Feb;155(2):e5; author reply e3. doi: 10.1016/j.ahj.2007.11.024. No abstract available.

PMID:
18215582
19.

Possible role for nitric oxide dysregulation in critical illness myopathy.

Capasso M, Di Muzio A, Pandolfi A, Pace M, Di Tomo P, Ragno M, Uncini A.

Muscle Nerve. 2008 Feb;37(2):196-202.

PMID:
17924542
20.

Persistent multifocal conduction block in vasculitic neuropathy with IgM anti-gangliosides.

Notturno F, Caporale CM, Di Muzio A, Uncini A.

Muscle Nerve. 2007 Oct;36(4):547-52.

PMID:
17405140
21.

The association of chronic hepatitis B and myopathy.

Capasso M, Di Muzio A, Comar M, Robuffo I, Gambi A, Crovella S, Pizzigallo E, Campello C, Uncini A.

Neurology. 2006 Oct 24;67(8):1467-9.

PMID:
17060575
22.

Determination of myoseverin embryotoxic potential by using FETAX.

Vismara C, Bacchetta R, Di Muzio A, Mantecca P, Tarca S, Vailati G, Colombo R.

Birth Defects Res B Dev Reprod Toxicol. 2006 Aug;77(4):257-67.

PMID:
16929549
23.

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.

Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B.

Neurogenetics. 2006 Nov;7(4):269-76. Epub 2006 Jul 22.

PMID:
16865356
24.

H2O2 induces abnormal tail flexure in Xenopus embryos: similarities with Paraquat teratogenic effects.

Vismara C, Bacchetta R, Di Muzio A, Mantecca P, Tarca S, Vailati G, Colombo R.

Birth Defects Res B Dev Reprod Toxicol. 2006 Jun;77(3):238-43.

PMID:
16767755
25.

Aflatoxin M1 effects on Xenopus laevis development.

Vismara C, Di Muzio A, Tarca S, Lucchino M, Foti I, Caloni F.

Birth Defects Res B Dev Reprod Toxicol. 2006 Jun;77(3):234-7.

PMID:
16767754
26.

Experimental axonopathy induced by immunization with Campylobacter jejuni lipopolysaccharide from a patient with Guillain-Barré syndrome.

Caporale CM, Capasso M, Luciani M, Prencipe V, Creati B, Gandolfi P, De Angelis MV, Di Muzio A, Caporale V, Uncini A.

J Neuroimmunol. 2006 May;174(1-2):12-20. Epub 2006 Mar 6.

PMID:
16516981
27.

Familial idiopathic hyper-CK-emia: an underrecognized condition.

Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A.

Muscle Nerve. 2006 Jun;33(6):760-5.

PMID:
16502425
28.

Lewis-Sumner syndrome in hepatitis C virus infection: a possible pathogenetic association with therapeutic problems.

Caporale CM, Capasso M, Ragno M, Di Muzio A, Uncini A.

Muscle Nerve. 2006 Jul;34(1):116-21.

PMID:
16453326
29.

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

Occhi S, Zambroni D, Del Carro U, Amadio S, Sirkowski EE, Scherer SS, Campbell KP, Moore SA, Chen ZL, Strickland S, Di Muzio A, Uncini A, Wrabetz L, Feltri ML.

J Neurosci. 2005 Oct 12;25(41):9418-27.

30.

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L.

Hum Genet. 2005 Jun;117(1):92-8. Epub 2005 Apr 20.

PMID:
15841391
31.

Demyelinating motor Guillain-Barré syndrome following rubella.

Capasso M, Di Muzio A, Caporale CM, De Angelis MV, Lugaresi A, Uncini A.

Neurology. 2005 Jan 25;64(2):390. No abstract available.

PMID:
15668453
32.

Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.

De Angelis MV, Di Muzio A, Capasso M, Angiari C, Cavallaro T, Fabrizi GM, Rizzuto N, Uncini A.

Neurology. 2004 Dec 14;63(11):2180-3.

PMID:
15596778
33.

Macrophagic myofasciitis: an infantile Italian case.

Di Muzio A, Capasso M, Verrotti A, Trotta D, Lupo S, Pappalepore N, Manzoli C, Chiarelli F, Uncini A.

Neuromuscul Disord. 2004 Feb;14(2):175-7.

PMID:
14733966
34.

Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation.

Capasso M, Di Muzio A, Ferrarini M, De Angelis MV, Caporale CM, Lupo S, Cavallaro T, Fabrizi GM, Uncini A.

Clin Neurophysiol. 2004 Jan;115(1):64-70.

PMID:
14706470
35.

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

Di Muzio A, De Angelis MV, Di Fulvio P, Ratti A, Pizzuti A, Stuppia L, Gambi D, Uncini A.

Muscle Nerve. 2003 Apr;27(4):500-6.

PMID:
12661054
36.

Immunohistochemical study of caveolin-3 in idiopathic hyperCKaemia.

Capasso M, Lupo S, Di Muzio A, Uncini A, Servidei S.

J Neurol Neurosurg Psychiatry. 2003 Apr;74(4):547-8. No abstract available.

37.

Hepatitis C virus infection and myositis: a virus localization study.

Di Muzio A, Bonetti B, Capasso M, Panzeri L, Pizzigallo E, Rizzuto N, Uncini A.

Neuromuscul Disord. 2003 Jan;13(1):68-71.

PMID:
12467735
38.

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Uncini A, Galluzzi G, Di Muzio A, De Angelis MV, Ricci E, Scoppetta C, Servidei S.

Neuromuscul Disord. 2002 Nov;12(9):874-7.

PMID:
12398841
39.

Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I disease.

Palumbo C, Massa R, Panico MB, Di Muzio A, Sinibaldi P, Bernardi G, Modesti A.

Acta Neuropathol. 2002 Sep;104(3):287-96. Epub 2002 May 16.

PMID:
12172915
40.

Can electrophysiology differentiate polyneuropathy with anti-MAG/SGPG antibodies from chronic inflammatory demyelinating polyneuropathy?

Capasso M, Torrieri F, Di Muzio A, De Angelis MV, Lugaresi A, Uncini A.

Clin Neurophysiol. 2002 Mar;113(3):346-53.

PMID:
11897535
41.

Anti-GD1a antibodies from an acute motor axonal neuropathy patient selectively bind to motor nerve fiber nodes of Ranvier.

De Angelis MV, Di Muzio A, Lupo S, Gambi D, Uncini A, Lugaresi A.

J Neuroimmunol. 2001 Dec 3;121(1-2):79-82.

PMID:
11730943
42.

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy.

Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, Tonali P, Servidei S.

Neurology. 2000 Feb 8;54(3):608-14.

PMID:
10680791
43.

A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome.

Lobefalo LT, Mancini AT, Petitti MT, Verrotti AE, Della Loggia GE, Di Muzio AE, Chiarelli FE, Gallenga PE.

Ophthalmic Genet. 1999 Dec;20(4):233-41.

PMID:
10617921
44.

Chronic inflammatory demyelinating polyneuropathy in diabetics: motor conductions are important in the differential diagnosis with diabetic polyneuropathy.

Uncini A, De Angelis MV, Di Muzio A, Callegarini C, Ciucci G, Antonini G, Lugaresi A, Gambi D.

Clin Neurophysiol. 1999 Apr;110(4):705-11.

PMID:
10378742
45.

Minimal and asymptomatic chronic inflammatory demyelinating polyneuropathy.

Uncini A, Di Muzio A, De Angelis MV, Gioia S, Lugaresi A.

Clin Neurophysiol. 1999 Apr;110(4):694-8.

PMID:
10378740
46.

Effect of rhTNF-alpha injection into rat sciatic nerve.

Uncini A, Di Muzio A, Di Guglielmo G, De Angelis MV, De Luca G, Lugaresi A, Gambi D.

J Neuroimmunol. 1999 Feb 1;94(1-2):88-94.

PMID:
10376940
47.

Microscopic polyarteritis with antineutrophil cytoplasmic antibodies in polyglandular autoimmunity.

Bonomini M, Settefrati N, Uncini A, Di Muzio A, Albertazzi A.

Nephrol Dial Transplant. 1998 Mar;13(3):813-4. No abstract available.

PMID:
9550683
48.

Low back pain due to hypertrophic roots as presenting symptom of CIDP.

Di Guglielmo G, Di Muzio A, Torrieri F, Repaci M, De Angelis MV, Uncini A.

Ital J Neurol Sci. 1997 Oct;18(5):297-9.

PMID:
9412855
49.

Distal myasthenia gravis and sensory neuronopathy with anti-50 kDa antibody mimicking sensory-motor neuropathy.

Uncini A, di Guglielmo G, di Muzio A, Repaci M, Lugaresi A, Forno GM, Nemni R.

J Neurol Neurosurg Psychiatry. 1997 Sep;63(3):414-5. No abstract available.

50.

Inflammatory myopathy after intravenous streptokinase.

Di Muzio A, Di Guglielmo G, Feliciani C, De Luca G, Di Muzio M, Uncini A.

Muscle Nerve. 1997 May;20(5):619-21. No abstract available.

PMID:
9140373

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