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Items: 39

1.

Distal motor neuropathy associated with novel EMILIN1 mutation.

Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C.

Neurobiol Dis. 2020 Jan 21:104757. doi: 10.1016/j.nbd.2020.104757. [Epub ahead of print]

PMID:
31978608
2.

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.

Lammertse HCA, van Berkel AA, Iacomino M, Toonen RF, Striano P, Gambardella A, Verhage M, Zara F.

Brain. 2019 Dec 19. pii: awz391. doi: 10.1093/brain/awz391. [Epub ahead of print]

PMID:
31855252
3.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J.

Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y.

4.

Reaction-Based, Fluorescent Film Deposition from Dopamine and a Diamine-Tethered, Bis-Resorcinol Coupler.

Alfieri ML, Iacomino M, Napolitano A, d'Ischia M.

Int J Mol Sci. 2019 Sep 13;20(18). pii: E4532. doi: 10.3390/ijms20184532.

5.

Chiari malformation type I: what information from the genetics?

Capra V, Iacomino M, Accogli A, Pavanello M, Zara F, Cama A, De Marco P.

Childs Nerv Syst. 2019 Oct;35(10):1665-1671. doi: 10.1007/s00381-019-04322-w. Epub 2019 Aug 5.

PMID:
31385087
6.

Novel TRIM32 mutation in sarcotubular myopathy.

Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C.

Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar.

7.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

8.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
9.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

10.

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C.

J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19.

PMID:
29556034
11.

Unexpected impact of esterification on the antioxidant activity and (photo)stability of a eumelanin from 5,6-dihydroxyindole-2-carboxylic acid.

Micillo R, Iacomino M, Perfetti M, Panzella L, Koike K, D'Errico G, d'Ischia M, Napolitano A.

Pigment Cell Melanoma Res. 2018 Jul;31(4):475-483. doi: 10.1111/pcmr.12689. Epub 2018 Feb 14.

PMID:
29350885
12.

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. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18.

PMID:
29307700
13.

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
14.

Replacing Nitrogen by Sulfur: From Structurally Disordered Eumelanins to Regioregular Thiomelanin Polymers.

Iacomino M, Mancebo-Aracil J, Guardingo M, Martín R, D'Errico G, Perfetti M, Manini P, Crescenzi O, Busqué F, Napolitano A, d'Ischia M, Sedó J, Ruiz-Molina D.

Int J Mol Sci. 2017 Oct 17;18(10). pii: E2169. doi: 10.3390/ijms18102169.

15.

Probing the Eumelanin-Silica Interface in Chemically Engineered Bulk Hybrid Nanoparticles for Targeted Subcellular Antioxidant Protection.

Silvestri B, Vitiello G, Luciani G, Calcagno V, Costantini A, Gallo M, Parisi S, Paladino S, Iacomino M, D'Errico G, Caso MF, Pezzella A, d'Ischia M.

ACS Appl Mater Interfaces. 2017 Nov 1;9(43):37615-37622. doi: 10.1021/acsami.7b11839. Epub 2017 Oct 23.

PMID:
29022703
16.

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.

17.

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.

18.

Stable Benzacridine Pigments by Oxidative Coupling of Chlorogenic Acid with Amino Acids and Proteins: Toward Natural Product-Based Green Food Coloring.

Iacomino M, Weber F, Gleichenhagen M, Pistorio V, Panzella L, Pizzo E, Schieber A, d'Ischia M, Napolitano A.

J Agric Food Chem. 2017 Aug 9;65(31):6519-6528. doi: 10.1021/acs.jafc.7b00999. Epub 2017 May 16.

PMID:
28488442
19.

Multifunctional Thin Films and Coatings from Caffeic Acid and a Cross-Linking Diamine.

Iacomino M, Paez JI, Avolio R, Carpentieri A, Panzella L, Falco G, Pizzo E, Errico ME, Napolitano A, Del Campo A, d'Ischia M.

Langmuir. 2017 Mar 7;33(9):2096-2102. doi: 10.1021/acs.langmuir.6b04079. Epub 2017 Feb 17.

PMID:
28191981
20.

Eumelanin broadband absorption develops from aggregation-modulated chromophore interactions under structural and redox control.

Micillo R, Panzella L, Iacomino M, Prampolini G, Cacelli I, Ferretti A, Crescenzi O, Koike K, Napolitano A, d'Ischia M.

Sci Rep. 2017 Feb 2;7:41532. doi: 10.1038/srep41532.

21.

Inflammatory myopathy in a patient with collagen VI mutations.

Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P.

Scand J Rheumatol. 2018 Mar;47(2):166-167. doi: 10.1080/03009742.2016.1274423. Epub 2017 Jan 18. No abstract available.

PMID:
28097933
22.

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.

23.

White matter involvement in a family with a novel PDGFB mutation.

Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F.

Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun.

24.

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S.

Neurol Genet. 2015 Nov 4;1(4):e35. doi: 10.1212/NXG.0000000000000035. eCollection 2015 Dec.

25.

Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement.

Limongelli G, Masarone D, Frisso G, Iacomino M, Ferrara I, Rea A, Gravino R, Bossone E, Salvatore F, Calabro R, Elliott P, Pacileo G.

J Cardiovasc Med (Hagerstown). 2017 Apr;18(4):249-254. doi: 10.2459/JCM.0000000000000361.

PMID:
26808413
26.

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy.

Rotundo IL, Lancioni A, Savarese M, D'Orsi L, Iacomino M, Nigro G, Piluso G, Auricchio A, Nigro V.

Hum Gene Ther. 2013 Apr;24(4):424-30. doi: 10.1089/hum.2012.121. Epub 2013 Apr 4.

27.

Enhancer chip: detecting human copy number variations in regulatory elements.

Savarese M, Piluso G, Orteschi D, Di Fruscio G, Dionisi M, Blanco Fdel V, Torella A, Giugliano T, Iacomino M, Zollino M, Neri G, Nigro V.

PLoS One. 2012;7(12):e52264. doi: 10.1371/journal.pone.0052264. Epub 2012 Dec 20.

28.

Prolonged left ventricular twist in cardiomyopathies: a potential link between systolic and diastolic dysfunction.

Pacileo G, Baldini L, Limongelli G, Di Salvo G, Iacomino M, Capogrosso C, Rea A, D'Andrea A, Russo MG, Calabrò R.

Eur J Echocardiogr. 2011 Nov;12(11):841-9. doi: 10.1093/ejechocard/jer148. Epub 2011 Aug 30.

PMID:
21880606
29.

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

Frisso G, Limongelli G, Pacileo G, Del Giudice A, Forgione L, Calabrò P, Iacomino M, Detta N, Di Fonzo LM, Maddaloni V, Calabrò R, Salvatore F.

Clin Genet. 2009 Jul;76(1):91-101. doi: 10.1111/j.1399-0004.2009.01190.x.

PMID:
19659763
30.

Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.

Limongelli G, Sarkozy A, Pacileo G, Calabrò P, Digilio MC, Maddaloni V, Gagliardi G, Di Salvo G, Iacomino M, Marino B, Dallapiccola B, Calabrò R.

Am J Med Genet A. 2008 Mar 1;146A(5):620-8. doi: 10.1002/ajmg.a.32206.

PMID:
18241070
31.

A study on metals content in patients with colorectal polyps.

Alimonti A, Bocca B, Lamazza A, Forte G, Rahimi S, Mattei D, Fiori E, Iacomino M, Schillaci A, De Masi E, Pino A.

J Toxicol Environ Health A. 2008;71(5):342-7. doi: 10.1080/15287390701839133.

PMID:
18214808
32.

[The role of natriuretic peptides in heart failure].

Ancona R, Limongelli G, Pacileo G, Miele T, Rea A, Roselli T, Masarone D, Messina S, Palmieri R, Golia E, Iacomino M, Gala S, Calabrò P, Di Salvo G, Calabrò R.

Minerva Med. 2007 Oct;98(5):591-602. Review. Italian.

PMID:
18043566
33.

Determination of 30 elements in colorectal biopsies by sector field inductively coupled plasma mass spectrometry: method development and preliminary baseline levels.

Bocca B, Lamazza A, Pino A, De Masi E, Iacomino M, Mattei D, Rahimi S, Fiori E, Schillaci A, Alimonti A, Forte G.

Rapid Commun Mass Spectrom. 2007;21(11):1776-82.

PMID:
17486673
34.

Left ventricle myocardial mechanics and textural properties in patients with Williams syndrome.

Verrengia M, Pacileo G, Limongelli G, Di Salvo G, Rea A, Iacomino M, Di Simone A, Russo MG, Calabrò R.

J Cardiovasc Med (Hagerstown). 2007 May;8(5):330-6.

PMID:
17443098
35.

[Acute myocardial infarction in the elderly. A case-control study with a younger population and review of literature].

Corsini F, Scaglione A, Iacomino M, Mascia G, Melorio S, Riccio C, Romano S, Vetrano A, Celardo S, Corsini G, Chieffo C.

Monaldi Arch Chest Dis. 2006 Mar;66(1):13-9. Review. Italian.

PMID:
17125042
36.

Strain rate imaging: data acquisition and postrocessing.

Di Salvo G, Pacileo G, Faillace D, Gala S, Iacomino M, Fratta F, Palma M, Castaldi B, Calabrò R.

Minerva Cardioangiol. 2006 Aug;54(4):451-9. Review. English, Italian.

PMID:
17016416
37.

Noninvasive risk stratification prevents sudden death due to paroxysmal atrial fibrillation in hypertrophic cardiomyopathy.

Limongelli G, Elliott PM, Pacileo G, Sarubbi B, Thaman R, Calabrò P, Vergara P, Iacomino M, Russo MG, Calabrò R.

J Cardiovasc Med (Hagerstown). 2006 Sep;7(9):711-3.

PMID:
16932087
38.

[Epidemiology of acute coronary syndrome in Campania].

Gregorio G, Citro R, Chieffo C, Corsini F, Riccio C, Iacomino M, Serafino M.

Monaldi Arch Chest Dis. 2005 Jun;64(2):157-63. Italian.

PMID:
16499311
39.

[Nursing role in cardiac prevention].

Riccio C, Sommaruga M, Vaghi P, Cassella A, Celardo S, Cocco E, de Chiro V, Marzaioli M, Ruotolo E, Zanni O, Iacomino M, Chieffo C.

Monaldi Arch Chest Dis. 2004 Jun;62(2):105-13. Review. Italian.

PMID:
15552222

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