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Items: 1 to 50 of 377

1.

Mutations in MICAL-1 cause autosomal dominant lateral temporal epilepsy.

Dazzo E, Rehberg K, Michelucci R, Passarelli D, Boniver C, Vianello Dri V, Striano P, Striano S, Pasterkamp RJ, Nobile C.

Ann Neurol. 2018 Feb 2. doi: 10.1002/ana.25167. [Epub ahead of print]

PMID:
29394500
2.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Wiest R, Zhang J, Vezzani A, Ryten M, Thompson PM, Sisodiya SM.

Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341.

PMID:
29365066
3.

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 Jan 23. doi: 10.1111/ane.12902. [Epub ahead of print]

PMID:
29363096
4.

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Iapadre G, Morana G, Vari MS, Pinto F, Lanteri P, Tessa A, Santorelli FM, Striano P, Verrotti A.

Eur J Paediatr Neurol. 2018 Jan 5. pii: S1090-3798(17)31883-4. doi: 10.1016/j.ejpn.2017.12.020. [Epub ahead of print]

PMID:
29361379
5.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

PMID:
29315614
6.

Rufinamide for the treatment of Lennox-Gastaut syndrome: evidence from clinical trials and clinical practice.

Striano P, McMurray R, Santamarina E, Falip M.

Epileptic Disord. 2018 Feb 1;20(1):13-29. doi: 10.1684/epd.2017.0950.

PMID:
29313492
7.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F.

Eur J Paediatr Neurol. 2017 Dec 18. pii: S1090-3798(17)31863-9. doi: 10.1016/j.ejpn.2017.12.005. [Epub ahead of print]

PMID:
29307700
8.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.

McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;, Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;, Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL.

Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29.

9.

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Coll M, Striano P, Ferrer-Costa C, Campuzano O, Matés J, Del Olmo B, Iglesias A, Pérez-Serra A, Mademont I, Picó F, Oliva A, Brugada R.

PLoS One. 2017 Dec 19;12(12):e0189618. doi: 10.1371/journal.pone.0189618. eCollection 2017.

10.

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

Greco M, Ferrara P, Farello G, Striano P, Verrotti A.

Epilepsy Res. 2018 Jan;139:92-101. doi: 10.1016/j.eplepsyres.2017.11.016. Epub 2017 Dec 2. Review.

PMID:
29212048
11.

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica).

Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25.

PMID:
29178011
12.

Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Considerations.

Cross JH, Auvin S, Falip M, Striano P, Arzimanoglou A.

Front Neurol. 2017 Sep 29;8:505. doi: 10.3389/fneur.2017.00505. eCollection 2017. Review.

13.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
14.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
15.

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9).

Severino M, Zara F, Rossi A, Striano P.

Neurology. 2017 Oct 3;89(14):e172-e173. doi: 10.1212/WNL.0000000000004542. No abstract available.

PMID:
28972112
16.

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH.

PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017.

17.

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S.

Neurology. 2017 Oct 17;89(16):1691-1697. doi: 10.1212/WNL.0000000000004518. Epub 2017 Sep 20.

PMID:
28931642
18.

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.

Vilan A, Mendes Ribeiro J, Striano P, Weckhuysen S, Weeke LC, Brilstra E, de Vries LS, Cilio MR.

Neonatology. 2017;112(4):387-393. doi: 10.1159/000478651. Epub 2017 Sep 20.

PMID:
28926830
19.

Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.

Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, Schubert J, Iacomino M, Zara F, Lerche H; EuroEPINOMICS CoGIE Consortium; Genetic Commission of Italian League Against Epilepsy (LICE), Moyanova S, Ngomba RT, van Luijtelaar G, Battaglia G, Bruno V, Striano P, Nicoletti F.

Epilepsia. 2017 Nov;58(11):1993-2001. doi: 10.1111/epi.13898. Epub 2017 Sep 15.

PMID:
28913875
20.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Depondt C; EpiPGX Consortium.

Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31.

PMID:
28857179
21.

Medical management for neurosurgical related seizures.

Ambrosi M, Orsini A, Verrotti A, Striano P.

Expert Opin Pharmacother. 2017 Oct;18(14):1491-1498. doi: 10.1080/14656566.2017.1373092. Epub 2017 Sep 1. Review.

PMID:
28847180
22.

The "plus" side of epilepsy phenotyping.

Zuberi SM, Striano P.

Neurology. 2017 Sep 19;89(12):1202-1203. doi: 10.1212/WNL.0000000000004399. Epub 2017 Aug 25. No abstract available.

PMID:
28842451
23.

Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy.

Belcastro V, Giordano L, Pruna D, Peruzzi C, Casellato S, Barca S, Carlone G, Striano P, Verrotti A.

Epilepsy Res. 2017 Oct;136:123-125. doi: 10.1016/j.eplepsyres.2017.08.001. Epub 2017 Aug 14.

PMID:
28829985
24.

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F.

Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. No abstract available.

25.

Reply to: "the complex interrelations between two paroxysmal disorders: headache and epilepsy".

Parisi P, Striano P, Belcastro V.

Neurol Sci. 2017 Nov;38(11):2067-2068. doi: 10.1007/s10072-017-3061-z. Epub 2017 Jul 19. No abstract available.

PMID:
28726054
26.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Minetti C, Striano P, Zara F.

Seizure. 2017 Aug;50:80-82. doi: 10.1016/j.seizure.2017.06.011. Epub 2017 Jun 15.

PMID:
28633043
27.

Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report.

Denegri L, Prato G, Mancardi MM, Schiaffino C, Striano P, Baglietto MG.

Neurodiagn J. 2017;57(2):139-146. doi: 10.1080/21646821.2017.1309941.

PMID:
28622125
28.

Ictal blinking, an under-recognized phenomenon: our experience and literature review.

Saporito MAN, Vitaliti G, Pavone P, Di Stefano G, Striano P, Caraballo RH, Falsaperla R.

Neuropsychiatr Dis Treat. 2017 May 31;13:1435-1439. doi: 10.2147/NDT.S135979. eCollection 2017.

29.

Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.

Striano S, Striano P.

Epilepsia. 2017 Jun;58 Suppl 2:12-15. doi: 10.1111/epi.13753.

PMID:
28591476
30.

ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome.

Striano P, Zara F.

Neurol Genet. 2017 May 26;3(3):e159. doi: 10.1212/NXG.0000000000000159. eCollection 2017 Jun. No abstract available.

31.

Recent advances in epilepsy genetics.

Orsini A, Zara F, Striano P.

Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10. Review.

PMID:
28499889
32.

Pediatric status epilepticus: improved management with new drug therapies?

Verrotti A, Ambrosi M, Pavone P, Striano P.

Expert Opin Pharmacother. 2017 Jun;18(8):789-798. doi: 10.1080/14656566.2017.1323873. Epub 2017 May 19. Review.

PMID:
28481700
33.

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A.

J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8.

PMID:
28391250
34.

Exploring the strengths and weakness of the ictal epileptic headache criteria.

Parisi P, Striano P, Belcastro V.

Acta Paediatr. 2017 May;106(5):694-695. doi: 10.1111/apa.13793. No abstract available.

PMID:
28383197
35.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
36.

Electroclinical features of epilepsy in patients with InvDup(15).

Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P.

Seizure. 2017 Apr;47:87-91. doi: 10.1016/j.seizure.2017.03.006. Epub 2017 Mar 9. Review.

PMID:
28343008
37.

The α2δ Subunit and Absence Epilepsy: Beyond Calcium Channels?

Celli R, Santolini I, Guiducci M, van Luijtelaar G, Parisi P, Striano P, Gradini R, Battaglia G, Ngomba RT, Nicoletti F.

Curr Neuropharmacol. 2017;15(6):918-925. doi: 10.2174/1570159X15666170309105451.

38.

Epilepsy: Common and rare epilepsies share genetic determinants.

Striano P, Zara F.

Nat Rev Neurol. 2017 Apr;13(4):200-201. doi: 10.1038/nrneurol.2017.30. Epub 2017 Mar 10. No abstract available.

PMID:
28281535
39.

Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series.

Verrotti A, Casciato S, Spalice A, Carotenuto M, Striano P, Parisi P, Zamponi N, Savasta S, Rinaldi VE, D'Alonzo R, Mecarini F, Ritaccio AJ, Di Gennaro G.

Eur J Paediatr Neurol. 2017 May;21(3):570-575. doi: 10.1016/j.ejpn.2017.02.002. Epub 2017 Feb 14.

PMID:
28238620
40.

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation.

Gigli L, Bertero G, Vidal MC, Iglesias A, Campuzano O, Striano P, Oliva A, Brugada R.

J Neurol. 2017 Apr;264(4):792-795. doi: 10.1007/s00415-017-8414-2. Epub 2017 Feb 20. No abstract available.

PMID:
28220292
41.

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, Striano S, Striano P, Coppola G, La Neve A, Giallonardo AT, Mecarelli O, Serioli E, Dazzo E, Fanciulli M, Nobile C.

Epilepsy Behav. 2017 Mar;68:103-107. doi: 10.1016/j.yebeh.2016.12.003. Epub 2017 Jan 28.

42.

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Erro R, Bhatia KP, Espay AJ, Striano P.

Mov Disord. 2017 Mar;32(3):310-318. doi: 10.1002/mds.26901. Epub 2017 Jan 16. Review.

PMID:
28090678
43.

Update on pharmacotherapy of myoclonic seizures.

Striano P, Belcastro V.

Expert Opin Pharmacother. 2017 Feb;18(2):187-193. doi: 10.1080/14656566.2017.1280459. Epub 2017 Jan 23. Review.

PMID:
28067060
44.

Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis.

Gasparini S, Ferlazzo E, Ascoli M, Sueri C, Cianci V, Russo C, Pisani LR, Striano P, Elia M, Beghi E, Colica C, Aguglia U; Epilepsy Study Group of the Italian Neurological Society.

Neurol Sci. 2017 Mar;38(3):399-406. doi: 10.1007/s10072-016-2803-7. Epub 2017 Jan 4. Review.

PMID:
28054170
45.

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.

Brain Dev. 2017 Apr;39(4):366-367. doi: 10.1016/j.braindev.2016.11.008. Epub 2016 Dec 4. No abstract available.

PMID:
27923528
46.

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

Dilena R, Striano P, Gennaro E, Bassi L, Olivotto S, Tadini L, Mosca F, Barbieri S, Zara F, Fumagalli M.

Brain Dev. 2017 Apr;39(4):345-348. doi: 10.1016/j.braindev.2016.10.015. Epub 2016 Nov 19.

PMID:
27876397
47.

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
48.

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F.

Mol Syndromol. 2016 Sep;7(4):234-238. Epub 2016 Aug 17.

49.

Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy.

Striano P, Belcastro V, Coppola A, Minetti C, Striano S.

Clin Neuropharmacol. 2016 Nov/Dec;39(6):281-287. Review.

PMID:
27753696
50.

Lafora disease.

Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):38-62. Review.

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