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Items: 1 to 50 of 86

1.

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort.

Pepi C, Cesaroni E, Striano P, Maiorani D, Pruna D, Cossu S, Di Capua M, Vigevano F, Specchio N, Cusmai R.

Seizure. 2019 Nov 10. pii: S1059-1311(19)30525-4. doi: 10.1016/j.seizure.2019.10.021. [Epub ahead of print]

PMID:
31776058
2.

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N.

Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19.

3.

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A.

Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1.

PMID:
29395663
4.

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A.

Acta Neurol Scand. 2018 Jun;137(6):575-581. doi: 10.1111/ane.12902. Epub 2018 Jan 23.

PMID:
29363096
5.

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. No abstract available.

PMID:
28900662
6.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Erratum in: Eur Radiol. 2017 Sep 12;:.

PMID:
28677066
7.

Current role of perampanel in pediatric epilepsy.

De Liso P, Moavero R, Coppola G, Curatolo P, Cusmai R, De Sarro G, Franzoni E, Vigevano F, Verrotti A.

Ital J Pediatr. 2017 Jun 2;43(1):51. doi: 10.1186/s13052-017-0368-6. Review.

8.

Neuroimaging Changes in Menkes Disease, Part 1.

Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases.

AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. Review.

9.

Neuroimaging Changes in Menkes Disease, Part 2.

Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases.

AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. Review.

10.

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini GM, Giannone G, Bertini ES, Vigevano F, Gecz J, Biagini G, Specchio N.

Epilepsia. 2017 Jun;58(6):e91-e95. doi: 10.1111/epi.13772. Epub 2017 May 4.

11.

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G.

Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30.

PMID:
28007337
12.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

De Liso P, Vigevano F, Specchio N, De Palma L, Bonanni P, Osanni E, Coppola G, Parisi P, Grosso S, Verrotti A, Spalice A, Nicita F, Zamponi N, Siliquini S, Giordano L, Martelli P, Guerrini R, Rosati A, Ilvento L, Belcastro V, Striano P, Vari MS, Capovilla G, Beccaria F, Bruni O, Luchetti A, Gobbi G, Russo A, Pruna D, Tozzi AE, Cusmai R.

Epilepsy Res. 2016 Nov;127:93-100. doi: 10.1016/j.eplepsyres.2016.08.021. Epub 2016 Aug 18.

PMID:
27568598
13.

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.

Matricardi S, Spalice A, Salpietro V, Di Rosa G, Balistreri MC, Grosso S, Parisi P, Elia M, Striano P, Accorsi P, Cusmai R, Specchio N, Coppola G, Savasta S, Carotenuto M, Tozzi E, Ferrara P, Ruggieri M, Verrotti A.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):288-95. doi: 10.1002/ajmg.c.31513. Epub 2016 Aug 13.

PMID:
27519909
14.

White matter disruption is associated with persistent seizures in tuberous sclerosis complex.

Moavero R, Napolitano A, Cusmai R, Vigevano F, Figà-Talamanca L, Calbi G, Curatolo P, Bernardi B.

Epilepsy Behav. 2016 Jul;60:63-67. doi: 10.1016/j.yebeh.2016.04.026. Epub 2016 May 11.

PMID:
27179194
15.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R; CDG Group.

Dev Med Child Neurol. 2016 Oct;58(10):1085-91. doi: 10.1111/dmcn.13141. Epub 2016 May 13.

16.

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.

Clin Genet. 2017 Jan;91(1):86-91. doi: 10.1111/cge.12783. Epub 2016 May 11.

PMID:
27062503
17.

PCDH19-related epilepsy in two mosaic male patients.

Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N.

Epilepsia. 2016 Mar;57(3):e51-5. doi: 10.1111/epi.13295. Epub 2016 Jan 14.

18.

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication.

Verrotti A, Laino D, Rinaldi VE, Suppiej A, Giordano L, Toldo I, Margari L, Parisi P, Rizzo R, Matricardi S, Cusmai R, Grosso S, Gaggero R, Zamponi N, Pavone P, Capovilla G, Rauchenzauner M, Cerminara C, Di Gennaro G, Esposito M, Striano P, Savasta S, Coppola G, Siliquini S, Operto F, Belcastro V, Ragona F, Marseglia GL, Spalice A.

Eur J Neurol. 2016 Feb;23(2):241-6. doi: 10.1111/ene.12840. Epub 2015 Oct 25.

PMID:
26498733
19.

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Maiorana A, Manganozzi L, Barbetti F, Bernabei S, Gallo G, Cusmai R, Caviglia S, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Sep 24;10:120. doi: 10.1186/s13023-015-0342-6.

20.

Cognitive development in females with PCDH19 gene-related epilepsy.

Cappelletti S, Specchio N, Moavero R, Terracciano A, Trivisano M, Pontrelli G, Gentile S, Vigevano F, Cusmai R.

Epilepsy Behav. 2015 Jan;42:36-40. doi: 10.1016/j.yebeh.2014.10.019. Epub 2014 Dec 11.

PMID:
25499160
21.

Erratum to: Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A.

J Neurol. 2015 Jan;262(1):124-5. doi: 10.1007/s00415-014-7579-1. No abstract available.

PMID:
25428530
22.

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A.

J Neurol. 2015 Jan;262(1):116-23. doi: 10.1007/s00415-014-7542-1. Epub 2014 Oct 18. Erratum in: J Neurol. 2015 Jan;262(1):124-5. Carotenuto, Marco [added]; Esposito, Maria [added].

PMID:
25326049
23.

Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.

Verrotti A, Cusmai R, Darra F, Martelli P, Accorsi P, Bergamo S, Bevivino E, Coppola G, Freri E, Grosso S, Matricardi S, Parisi P, Sartori S, Spalice A, Specchio N, Carelli A, Zini D, Dalla Bernardina B, Giordano L.

Epilepsy Res. 2014 Nov;108(9):1597-603. doi: 10.1016/j.eplepsyres.2014.08.006. Epub 2014 Aug 30.

PMID:
25218893
24.

Current role of rufinamide in the treatment of childhood epilepsy: literature review and treatment guidelines.

Coppola G, Besag F, Cusmai R, Dulac O, Kluger G, Moavero R, Nabbout R, Nikanorova M, Pisani F, Verrotti A, von Stülpnagel C, Curatolo P.

Eur J Paediatr Neurol. 2014 Nov;18(6):685-90. doi: 10.1016/j.ejpn.2014.05.008. Epub 2014 May 28. Review.

PMID:
24929673
25.

Long-term follow-up in children with benign convulsions associated with gastroenteritis.

Verrotti A, Moavero R, Vigevano F, Cantonetti L, Guerra A, Spezia E, Tricarico A, Nanni G, Agostinelli S, Chiarelli F, Parisi P, Capovilla G, Beccaria F, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Cusmai R.

Eur J Paediatr Neurol. 2014 Sep;18(5):572-7. doi: 10.1016/j.ejpn.2014.04.006. Epub 2014 Apr 14.

PMID:
24780603
26.

Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders.

Cusmai R, Verrotti A, Moavero R, Curatolo P, Battaglia D, Matricardi S, Spalice A, Vigevano F, Pruna D, Parisi P, D'Aniello A, Di Gennaro G, Coppola G.

Epilepsy Res. 2014 Mar;108(3):542-6. doi: 10.1016/j.eplepsyres.2014.01.013. Epub 2014 Jan 30.

PMID:
24548548
27.

Efficacy and tolerability of add-on lacosamide in children with Lennox-Gastaut syndrome.

Grosso S, Coppola G, Cusmai R, Parisi P, Spalice A, Foligno S, Verrotti A, Balestri P.

Acta Neurol Scand. 2014 Jun;129(6):420-4. doi: 10.1111/ane.12221. Epub 2014 Jan 30.

PMID:
24479878
28.

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A.

Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1.

29.

Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.

Giordano L, Vignoli A, Cusmai R, Parisi P, Mastrangelo M, Coppola G, Cordelli DM, Accorsi P, Milito G, Darra F, Pruna D, Belcastro V, Verrotti A, Striano P.

Epilepsia. 2013 Oct;54 Suppl 7:66-9. doi: 10.1111/epi.12311.

30.

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

Verrotti A, Cusmai R, Nicita F, Pizzolorusso A, Elia M, Zamponi N, Cesaroni E, Granata T, De Giorgi I, Giordano L, Grosso S, Pavone P, Franzoni E, Coppola G, Cerminara C, Curatolo P, Savasta S, Striano P, Parisi P, Romeo A, Spalice A.

J Pediatr. 2013 Dec;163(6):1754-8. doi: 10.1016/j.jpeds.2013.07.022. Epub 2013 Aug 27.

PMID:
23992680
31.

Clinical Reasoning: a girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina.

Moavero R, Cusmai R, Roberti MC, Vigevano F, Curatolo P.

Neurology. 2013 Jan 29;80(5):e42-6. doi: 10.1212/WNL.0b013e31827f1346.

PMID:
23359376
32.

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

Verrotti A, Loiacono G, Pizzolorusso A, Parisi P, Bruni O, Luchetti A, Zamponi N, Cappanera S, Grosso S, Kluger G, Janello C, Franzoni E, Elia M, Spalice A, Coppola G, Striano P, Pavone P, Savasta S, Viri M, Romeo A, Aloisi P, Gobbi G, Ferretti A, Cusmai R, Curatolo P.

Seizure. 2013 Apr;22(3):210-6. doi: 10.1016/j.seizure.2012.12.009. Epub 2013 Jan 5. Erratum in: Seizure. 2014 Apr;23(4):325.

33.

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R.

Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4.

34.

PRRT2 is mutated in familial and non-familial benign infantile seizures.

Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F.

Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17.

PMID:
22902423
35.

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

Verrotti A, Matricardi S, Capovilla G, D'Egidio C, Cusmai R, Romeo A, Pruna D, Pavone P, Cappanera S, Granata T, Gobbi G, Striano P, Grosso S, Parisi P, Franzoni E, Striano S, Spalice A, Marino R, Vigevano F, Coppola G.

Epilepsy Res. 2013 Feb;103(2-3):237-44. doi: 10.1016/j.eplepsyres.2012.07.004. Epub 2012 Jul 20.

PMID:
22819072
36.

Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study.

Moavero R, Cusmai R, Specchio N, Fusco L, Capuano A, Curatolo P, Vigevano F.

Epilepsy Res. 2012 Nov;102(1-2):94-9. doi: 10.1016/j.eplepsyres.2012.05.004. Epub 2012 Jun 5.

PMID:
22677424
37.

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Cusmai R, Martinelli D, Moavero R, Dionisi Vici C, Vigevano F, Castana C, Elia M, Bernabei S, Bevivino E.

Eur J Paediatr Neurol. 2012 Sep;16(5):509-13. doi: 10.1016/j.ejpn.2011.12.015. Epub 2012 Jan 18.

PMID:
22261077
38.

Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis.

Cusmai R, Moavero R, Bombardieri R, Vigevano F, Curatolo P.

Epilepsy Behav. 2011 Dec;22(4):735-9. doi: 10.1016/j.yebeh.2011.08.037.

PMID:
22142783
39.

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F.

Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11.

40.

The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.

Veggiotti P, Burlina A, Coppola G, Cusmai R, De Giorgis V, Guerrini R, Tagliabue A, Dalla Bernardina B.

Epilepsia. 2011 Apr;52 Suppl 2:83-9. doi: 10.1111/j.1528-1167.2011.03010.x. Review.

41.

Convulsions associated with gastroenteritis in the spectrum of benign focal epilepsies in infancy: 30 cases including four cases with ictal EEG recording.

Cusmai R, Jocic-Jakubi B, Cantonetti L, Japaridze N, Vigevano F.

Epileptic Disord. 2010 Dec;12(4):255-61. doi: 10.1684/epd.2010.0340. Epub 2010 Nov 23.

42.

Childhood refractory focal epilepsy following acute febrile encephalopathy.

Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F.

Eur J Neurol. 2011 Jul;18(7):952-61. doi: 10.1111/j.1468-1331.2010.03253.x. Epub 2010 Nov 18.

PMID:
21087361
43.

Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome.

Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F.

Epilepsy Res. 2010 Feb;88(2-3):112-7. doi: 10.1016/j.eplepsyres.2009.10.005. Epub 2009 Nov 14.

PMID:
19914805
44.

Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.

Verrotti A, Cerminara C, Coppola G, Franzoni E, Parisi P, Iannetti P, Aloisi P, Tozzi E, Cusmai R, Vigevano F, Chiarelli F, Curatolo P.

Dev Med Child Neurol. 2008 Jan;50(1):29-32. doi: 10.1111/j.1469-8749.2007.02009.x.

45.

Occurrence of a prolonged nonepileptic motor status after a febrile seizure.

Specchio N, Cusmai R, Volkov J, Montaldo P, Vigevano F.

Epilepsia. 2006 Jun;47(6):1079-81.

46.

Short-term nonhormonal and nonsteroid treatment in West syndrome.

Capovilla G, Beccaria F, Montagnini A, Cusmai R, Franzoni E, Moscano F, Coppola G, Carotenuto M, Gobbi G, Seri S, Nabbout R, Vigevano F.

Epilepsia. 2003 Aug;44(8):1085-8. Erratum in: Epilepsia. 2004 Jul;45(7):887. Beccaria, Francesco [corrected to Beccaria, Francesca]; Montagnini, Allesandra [corrected to Montagnini, Alessandra]; Coppola, Giangennero [corrected to Coppola, Giangennaro].

47.

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E.

Neurology. 2003 Feb 25;60(4):674-82.

PMID:
12601111
48.

The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience.

Coppola G, Veggiotti P, Cusmai R, Bertoli S, Cardinali S, Dionisi-Vici C, Elia M, Lispi ML, Sarnelli C, Tagliabue A, Toraldo C, Pascotto A.

Epilepsy Res. 2002 Feb;48(3):221-7.

PMID:
11904241
49.
50.

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA.

Ann Neurol. 2000 Feb;47(2):265-9.

PMID:
10665503

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