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Items: 1 to 50 of 378

1.

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

Mastrangelo M, Mei D, Cesario S, Fioriello F, Bernardini L, Brinciotti M, Guerrini R, Leuzzi V.

Parkinsonism Relat Disord. 2019 Sep 18;68:1-3. doi: 10.1016/j.parkreldis.2019.09.016. [Epub ahead of print] No abstract available.

PMID:
31621611
2.

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mastrangelo M, Alfonsi C, Screpanti I, Masuelli L, Tavazzi B, Mei D, Giannotti F, Guerrini R, Leuzzi V.

Mol Genet Metab Rep. 2019 Aug 21;21:100502. doi: 10.1016/j.ymgmr.2019.100502. eCollection 2019 Dec.

3.

Correction to: Clinical approach to neurodegenerative disorders in childhood: an updated overview.

Mastrangelo M.

Acta Neurol Belg. 2019 Aug 26. doi: 10.1007/s13760-019-01205-4. [Epub ahead of print]

PMID:
31452092
4.

Update on the treatment of vitamin B6 dependent epilepsies.

Mastrangelo M, Cesario S.

Expert Rev Neurother. 2019 Nov;19(11):1135-1147. doi: 10.1080/14737175.2019.1648212. Epub 2019 Jul 29.

PMID:
31340680
5.

Linking the scientific knowledge on marine frontal systems with ecosystem services.

Martinetto P, Alemany D, Botto F, Mastrángelo M, Falabella V, Acha EM, Antón G, Bianchi A, Campagna C, Cañete G, Filippo P, Iribarne O, Laterra P, Martínez P, Negri R, Piola AR, Romero SI, Santos D, Saraceno M.

Ambio. 2019 Jul 12. doi: 10.1007/s13280-019-01222-w. [Epub ahead of print]

PMID:
31301003
6.

Clinical approach to neurodegenerative disorders in childhood: an updated overview.

Mastrangelo M.

Acta Neurol Belg. 2019 Dec;119(4):511-521. doi: 10.1007/s13760-019-01160-0. Epub 2019 Jun 3. Review. Erratum in: Acta Neurol Belg. 2019 Aug 26;:.

PMID:
31161467
7.

Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.

Mastrangelo M, Manti F, Patanè L, Ferrari S, Carducci C, Carducci C, Mangili G, Leuzzi V.

Mov Disord Clin Pract. 2018 May 12;5(4):446-447. doi: 10.1002/mdc3.12622. eCollection 2018 Jul-Aug. No abstract available.

8.

Acetylcholine Inhibits Platelet Activation.

Bennett JA, Ture SK, Schmidt RA, Mastrangelo MA, Cameron SJ, Terry LE, Yule DI, Morrell CN, Lowenstein CJ.

J Pharmacol Exp Ther. 2019 May;369(2):182-187. doi: 10.1124/jpet.118.253583. Epub 2019 Feb 14.

PMID:
30765424
9.

Psychosocial Suicide Prevention Interventions in the Elderly: A Mini-Review of the Literature.

Zeppegno P, Gattoni E, Mastrangelo M, Gramaglia C, Sarchiapone M.

Front Psychol. 2019 Jan 9;9:2713. doi: 10.3389/fpsyg.2018.02713. eCollection 2018. Review.

10.

Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.

Mastrangelo M, Tromba V, Silvestri F, Costantino F.

Eur J Paediatr Neurol. 2019 Mar;23(2):240-247. doi: 10.1016/j.ejpn.2018.12.006. Epub 2018 Dec 21. Review.

PMID:
30600130
11.

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen MH, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange PE, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC), Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, März W, Jukema JW, Dehghan A, Trégouët DA, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL.

Circulation. 2019 Jan 29;139(5):620-635. doi: 10.1161/CIRCULATIONAHA.118.034532.

12.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M, Sartori S, Simonati A, Brinciotti M, Moro F, Nosadini M, Pezzini F, Doccini S, Santorelli FM, Leuzzi V.

Eur J Med Genet. 2018 Nov 27:103591. doi: 10.1016/j.ejmg.2018.11.025. [Epub ahead of print]

PMID:
30500434
13.

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.

PMID:
30451291
14.

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Cappuccio G, Torella A, Mastrangelo M, Carducci C, Nigro V; TUDP, Brunetti-Pierri N, Leuzzi V.

Acta Paediatr. 2019 Mar;108(3):564-565. doi: 10.1111/apa.14633. Epub 2018 Nov 27. No abstract available.

PMID:
30383884
15.

PRICKLE1-related early onset epileptic encephalopathy.

Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V.

Am J Med Genet A. 2018 Dec;176(12):2841-2845. doi: 10.1002/ajmg.a.40625. Epub 2018 Oct 22.

PMID:
30345727
16.

Use of integrated biomarker indexes for assessing the impact of receiving waters on a native neotropical teleost fish.

Baudou FG, Ossana NA, Castañé PM, Mastrángelo MM, González Núñez AA, Palacio MJ, Ferrari L.

Sci Total Environ. 2019 Feb 10;650(Pt 2):1779-1786. doi: 10.1016/j.scitotenv.2018.09.342. Epub 2018 Sep 27.

PMID:
30278422
17.

Minimum tillage and organic fertilization for the sustainable management of Brassica carinata A. (Braun) in the Mediterranean environment.

Debiase G, Traversa A, Montemurro F, Mastrangelo M, Fiore A, Ventrella G, Brunetti G.

Environ Sci Pollut Res Int. 2018 Nov;25(33):33556-33565. doi: 10.1007/s11356-018-3244-z. Epub 2018 Sep 29.

PMID:
30269278
18.

Reliability and accuracy of the brachial plexus neurodynamic test.

Butler MW, Karagiannopoulos C, Galantino ML, Mastrangelo MA.

J Hand Ther. 2018 Jul 13. pii: S0894-1130(17)30229-6. doi: 10.1016/j.jht.2018.02.009. [Epub ahead of print]

PMID:
30017417
19.

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures.

Savini MN, Mingarelli A, Vignoli A, La Briola F, Chiesa V, Peron A, Mai R, Tassi L, Mastrangelo M, Zambrelli E, Turner K, Canevini MP.

Epilepsy Behav. 2018 Aug;85:14-20. doi: 10.1016/j.yebeh.2018.05.027. Epub 2018 Jun 12.

PMID:
29906696
20.

Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.

Mastrangelo M.

J Pediatr Neurosci. 2018 Jan-Mar;13(1):13-23. doi: 10.4103/JPN.JPN_160_16. Review.

21.

Photosensitivity as an early marker of epileptic and developmental encephalopathies.

Kasteleijn-Nolst Trenité D, Mastrangelo M, Spalice A, Parisi P.

Epilepsia. 2018 May;59(5):1086-1087. doi: 10.1111/epi.14031. No abstract available.

22.

Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature.

Scelsa B, Rustico M, Righini A, Parazzini C, Balestriero MA, Introvini P, Spaccini L, Mastrangelo M, Lista G, Zuccotti GV, Veggiotti P.

Eur J Paediatr Neurol. 2018 Nov;22(6):919-928. doi: 10.1016/j.ejpn.2018.04.001. Epub 2018 Apr 12. Review.

PMID:
29709429
23.

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2018 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. No abstract available.

PMID:
29548777
24.

Cisplatin-Based Therapy and CINV: Optimal Antiemetics During Germ Cell Testicular Cancer Treatment

Mastrangelo M.

Clin J Oncol Nurs. 2018 Apr 1;22(2):E31-E36. doi: 10.1188/18.CJON.E31-E36.

PMID:
29547608
25.

Premature birth: complexities and difficulties in building the mother-child relationship.

Ionio C, Lista G, Mascheroni E, Olivari MG, Confalonieri E, Mastrangelo M, Brazzoduro V, Balestriero MA, Banfi A, Bonanomi A, Bova S, Castoldi F, Colombo C, Introvini P, Scelsa B.

J Reprod Infant Psychol. 2017 Nov;35(5):509-523. doi: 10.1080/02646838.2017.1383977. Epub 2017 Oct 6.

PMID:
29517381
26.

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Data Brief. 2017 Oct 28;15:868-875. doi: 10.1016/j.dib.2017.10.032. eCollection 2017 Dec.

27.

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.

Biasucci G, Morelli N, Natacci F, Mastrangelo M.

Ital J Pediatr. 2018 Jan 15;44(1):8. doi: 10.1186/s13052-018-0450-8.

28.

PD-L1 expression in tumor metastasis is different between uveal melanoma and cutaneous melanoma.

Javed A, Arguello D, Johnston C, Gatalica Z, Terai M, Weight RM, Orloff M, Mastrangelo MJ, Sato T.

Immunotherapy. 2017 Dec;9(16):1323-1330. doi: 10.2217/imt-2017-0066.

29.

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
30.

Interleukin-17 limits hypoxia-inducible factor 1α and development of hypoxic granulomas during tuberculosis.

Domingo-Gonzalez R, Das S, Griffiths KL, Ahmed M, Bambouskova M, Gopal R, Gondi S, Muñoz-Torrico M, Salazar-Lezama MA, Cruz-Lagunas A, Jiménez-Álvarez L, Ramirez-Martinez G, Espinosa-Soto R, Sultana T, Lyons-Weiler J, Reinhart TA, Arcos J, de la Luz Garcia-Hernandez M, Mastrangelo MA, Al-Hammadi N, Townsend R, Balada-Llasat JM, Torrelles JB, Kaplan G, Horne W, Kolls JK, Artyomov MN, Rangel-Moreno J, Zúñiga J, Khader SA.

JCI Insight. 2017 Oct 5;2(19). pii: 92973. doi: 10.1172/jci.insight.92973.

31.

Adjuvant Sunitinib in High-Risk Patients with Uveal Melanoma: Comparison with Institutional Controls.

Valsecchi ME, Orloff M, Sato R, Chervoneva I, Shields CL, Shields JA, Mastrangelo MJ, Sato T.

Ophthalmology. 2018 Feb;125(2):210-217. doi: 10.1016/j.ophtha.2017.08.017. Epub 2017 Sep 19.

PMID:
28935400
32.

Short-Term Vitamin D3 Supplementation in Children with Neurodisabilities: Comparison of Two Delivery Methods.

Penagini F, Borsani B, Maruca K, Giosia V, Bova S, Mastrangelo M, Zuccotti GV, Mora S.

Horm Res Paediatr. 2017;88(3-4):281-284. doi: 10.1159/000479690. Epub 2017 Sep 12.

PMID:
28898870
33.

Cadmium effects on some energy metabolism variables in Cnesterodon decemmaculatus adults.

Baudou FG, Ossana NA, Castañé PM, Mastrángelo MM, Ferrari L.

Ecotoxicology. 2017 Nov;26(9):1250-1258. doi: 10.1007/s10646-017-1850-z. Epub 2017 Sep 11.

PMID:
28894960
34.

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V.

Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Erratum in: Mol Genet Metab. 2018 Mar 14;:.

PMID:
28818555
35.

Phase 1 Study of Ipilimumab Combined With Whole Brain Radiation Therapy or Radiosurgery for Melanoma Patients With Brain Metastases.

Williams NL, Wuthrick EJ, Kim H, Palmer JD, Garg S, Eldredge-Hindy H, Daskalakis C, Feeney KJ, Mastrangelo MJ, Kim LJ, Sato T, Kendra KL, Olencki T, Liebner DA, Farrell CJ, Evans JJ, Judy KD, Andrews DW, Dicker AP, Werner-Wasik M, Shi W.

Int J Radiat Oncol Biol Phys. 2017 Sep 1;99(1):22-30. doi: 10.1016/j.ijrobp.2017.05.028. Epub 2017 May 26.

PMID:
28816150
36.

Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis.

Kageyama K, Ohara M, Saito K, Ozaki S, Terai M, Mastrangelo MJ, Fortina P, Aplin AE, Sato T.

J Transl Med. 2017 Jun 23;15(1):145. doi: 10.1186/s12967-017-1247-z.

37.

Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study.

Raucci U, Parisi P, Vanacore N, La Penna F, Ferro V, Calistri L, Bondone C, Midulla F, Suppiej A, Falsaperla R, Cordelli DM, Palmieri A, Verrotti A, Becciani S, Aguzzi S, Mastrangelo M, Pelizza F, Greco F, Carbonari G, Tallone R, Bottone G, Trenta I, Masi S, Villa MP, Reale A.

Eur J Paediatr Neurol. 2017 Sep;21(5):722-729. doi: 10.1016/j.ejpn.2017.05.010. Epub 2017 Jun 3.

PMID:
28625338
38.

Minor Head Trauma in the Pediatric Emergency Department: Decision Making Nodes.

Mastrangelo M, Midulla F.

Curr Pediatr Rev. 2017;13(2):92-99. doi: 10.2174/1573396313666170404113214. Review.

PMID:
28393708
39.

Lennox-Gastaut Syndrome: A State of the Art Review.

Mastrangelo M.

Neuropediatrics. 2017 Jun;48(3):143-151. doi: 10.1055/s-0037-1601324. Epub 2017 Mar 27. Review.

PMID:
28346953
40.

Patient Symptoms Are the Most Frequent Indicators of Recurrence in Patients with American Joint Committee on Cancer Stage II Melanoma.

Berger AC, Ollila DW, Christopher A, Kairys JC, Mastrangelo MJ, Feeney K, Dabbish N, Leiby B, Frank JA, Stitzenberg KB, Meyers MO.

J Am Coll Surg. 2017 Apr;224(4):652-659. doi: 10.1016/j.jamcollsurg.2016.12.038. Epub 2017 Feb 8.

PMID:
28189663
41.

Forest conservation: Remember Gran Chaco.

Kuemmerle T, Altrichter M, Baldi G, Cabido M, Camino M, Cuellar E, Cuellar RL, Decarre J, Díaz S, Gasparri I, Gavier-Pizarro G, Ginzburg R, Giordano AJ, Grau HR, Jobbágy E, Leynaud G, Macchi L, Mastrangelo M, Matteucci SD, Noss A, Paruelo J, Piquer-Rodríguez M, Romero-Muñoz A, Semper-Pascual A, Thompson J, Torrella S, Torres R, Volante JN, Yanosky A, Zak M.

Science. 2017 Feb 3;355(6324):465. doi: 10.1126/science.aal3020. No abstract available.

PMID:
28154041
42.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Review.

43.

Novel Thrombotic Function of a Human SNP in STXBP5 Revealed by CRISPR/Cas9 Gene Editing in Mice.

Zhu QM, Ko KA, Ture S, Mastrangelo MA, Chen MH, Johnson AD, O'Donnell CJ, Morrell CN, Miano JM, Lowenstein CJ.

Arterioscler Thromb Vasc Biol. 2017 Feb;37(2):264-270. doi: 10.1161/ATVBAHA.116.308614. Epub 2016 Dec 29.

44.

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Leuzzi V, Mastrangelo M, Giannini MT, Carbonetti R, Hoffmann GF.

Neurology. 2017 Jan 31;88(5):501-502. doi: 10.1212/WNL.0000000000003539. Epub 2016 Dec 30. No abstract available.

PMID:
28039315
45.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD).

Mol Genet Metab Rep. 2016 Oct 20;9:61-66. eCollection 2016 Dec.

46.

Epilepsy in ring chromosome 20 syndrome.

Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP.

Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24.

PMID:
27816898
47.

A novel TRPV4-specific agonist inhibits monocyte adhesion and atherosclerosis.

Xu S, Liu B, Yin M, Koroleva M, Mastrangelo M, Ture S, Morrell CN, Zhang DX, Fisher EA, Jin ZG.

Oncotarget. 2016 Jun 21;7(25):37622-37635. doi: 10.18632/oncotarget.9376.

48.

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.

Vecchi M, Barba C, De Carlo D, Stivala M, Guerrini R, Albamonte E, Ranalli D, Battaglia D, Lunardi G, Boniver C, Piccolo B, Pisani F, Cantalupo G, Nieddu G, Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S.

Epilepsia. 2016 Nov;57(11):1808-1816. doi: 10.1111/epi.13574. Epub 2016 Oct 20.

49.

Deforestation impacts on soil organic carbon stocks in the Semiarid Chaco Region, Argentina.

Villarino SH, Studdert GA, Baldassini P, Cendoya MG, Ciuffoli L, Mastrángelo M, Piñeiro G.

Sci Total Environ. 2017 Jan 1;575:1056-1065. doi: 10.1016/j.scitotenv.2016.09.175. Epub 2016 Sep 29.

PMID:
27693151
50.

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.

Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.

PMID:
27549011

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