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Items: 48

1.

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M.

Pediatr Neurol. 2019 Oct 19. pii: S0887-8994(19)30881-1. doi: 10.1016/j.pediatrneurol.2019.09.005. [Epub ahead of print]

PMID:
31836334
2.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.

Clin Genet. 2019 Oct 10. doi: 10.1111/cge.13651. [Epub ahead of print]

PMID:
31600839
3.

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Stellacci E, Moneta GM, Bruselles A, Barresi S, Pizzi S, Torre G, De Benedetti F, Tartaglia M, Insalaco A.

Clin Genet. 2019 Dec;96(6):585-589. doi: 10.1111/cge.13632. Epub 2019 Sep 4.

PMID:
31448411
4.

Koebner phenomenon of hidradenitis suppurativa on a surgical scar.

Musumeci ML, Pavone A, Barresi S, Scilletta A, Micali G.

Int Wound J. 2019 Oct;16(5):1231-1233. doi: 10.1111/iwj.13169. Epub 2019 Jul 29. No abstract available.

PMID:
31353763
5.

Multiple xanthogranulomas in an adult patient: clinical, dermoscopic, reflectance confocal microscopy and histopathological features.

Lacarrubba F, Verzì AE, Barresi S, Micali G.

BMJ Case Rep. 2019 Jul 1;12(7). pii: e229772. doi: 10.1136/bcr-2019-229772.

PMID:
31266759
6.

POGZ-related epilepsy: Case report and review of the literature.

Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N.

Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Review.

PMID:
31136090
7.

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W.

Cerebellum. 2019 Jun;18(3):433-434. doi: 10.1007/s12311-019-01021-9.

PMID:
30835075
8.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M.

Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.

PMID:
30825388
9.

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W.

Cerebellum. 2019 Jun;18(3):422-432. doi: 10.1007/s12311-019-1010-5. Erratum in: Cerebellum. 2019 Mar 5;:.

PMID:
30741391
10.

Expanding the clinical spectrum associated with PACS2 mutations.

Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M.

Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28.

PMID:
30684285
11.

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Manti F, Nardecchia F, Barresi S, Venditti M, Pizzi S, Hamdan FF, Blau N, Burlina A, Tartaglia M, Leuzzi V.

Parkinsonism Relat Disord. 2019 Apr;61:207-210. doi: 10.1016/j.parkreldis.2018.10.012. Epub 2018 Oct 11.

PMID:
30337205
12.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M.

Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.

13.

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

El Hachem M, Barresi S, Diociaiuti A, Boldrini R, Condorelli AG, Capoluongo E, Proto V, Scuvera G, Has C, Tartaglia M, Castiglia D.

Acta Derm Venereol. 2019 Feb 1;99(2):238-239. doi: 10.2340/00015555-3046. No abstract available.

14.

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC.

Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Review.

15.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.

Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.

PMID:
29691679
16.

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.

Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.

PMID:
29547997
17.

Skin infections are eliminated by cooperation of the fibrinolytic and innate immune systems.

Santus W, Barresi S, Mingozzi F, Broggi A, Orlandi I, Stamerra G, Vai M, Martorana AM, Polissi A, Köhler JR, Liu N, Zanoni I, Granucci F.

Sci Immunol. 2017 Sep 22;2(15). pii: eaan2725. doi: 10.1126/sciimmunol.aan2725.

18.

Treatment of Multiple-Resistant and/or Recurrent Cutaneous Warts With Squaric Acid Dibutylester: A Randomized, Double-blind, Vehicle-controlled Clinical Trial.

DallʼOglio F, Luca M, Barresi S, Micali G.

Dermatitis. 2017 Sep/Oct;28(5):308-312. doi: 10.1097/DER.0000000000000317.

PMID:
28885314
19.

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A.

Ital J Pediatr. 2017 Aug 2;43(1):65. doi: 10.1186/s13052-017-0383-7.

20.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.

Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.

21.

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M.

Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7.

PMID:
28480548
22.

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Zanni G, Nardella M, Barresi S, Bellacchio E, Niceta M, Ciolfi A, Pro S, D'Arrigo S, Tartaglia M, Bertini E.

Brain. 2017 Jun 1;140(6):e34. doi: 10.1093/brain/awx083. No abstract available.

PMID:
28402445
23.

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells.

Manic G, Signore M, Sistigu A, Russo G, Corradi F, Siteni S, Musella M, Vitale S, De Angelis ML, Pallocca M, Amoreo CA, Sperati F, Di Franco S, Barresi S, Policicchio E, De Luca G, De Nicola F, Mottolese M, Zeuner A, Fanciulli M, Stassi G, Maugeri-Saccà M, Baiocchi M, Tartaglia M, Vitale I, De Maria R.

Gut. 2018 May;67(5):903-917. doi: 10.1136/gutjnl-2016-312623. Epub 2017 Apr 7.

24.

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, Tartaglia M, Digilio MC.

Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25.

PMID:
28374925
25.

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
26.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E.

Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.

27.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G.

Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9.

28.

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
29.

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E.

Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28.

PMID:
26643067
30.

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L.

Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14.

PMID:
26290468
31.

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Compagnucci C, Barresi S, Petrini S, Bertini E, Zanni G.

Biochem Biophys Res Commun. 2015 Apr 3;459(2):179-183. doi: 10.1016/j.bbrc.2014.12.033. Epub 2014 Dec 12.

PMID:
25511694
32.

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.

Barresi S, Tomaselli S, Athanasiadis A, Galeano F, Locatelli F, Bertini E, Zanni G, Gallo A.

PLoS One. 2014 Mar 17;9(3):e91351. doi: 10.1371/journal.pone.0091351. eCollection 2014.

33.

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E.

Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.

PMID:
24630051
34.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W.

Neurogenetics. 2013 Nov;14(3-4):247-50. doi: 10.1007/s10048-013-0371-z. Epub 2013 Aug 24.

PMID:
23975261
35.

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75.

36.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E.

Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11.

PMID:
23317684
37.

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.

Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B.

Neurogenetics. 2013 Feb;14(1):77-83. doi: 10.1007/s10048-012-0352-7. Epub 2012 Dec 30.

PMID:
23274687
38.

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Zanni G, Calì T, Kalscheuer VM, Ottolini D, Barresi S, Lebrun N, Montecchi-Palazzi L, Hu H, Chelly J, Bertini E, Brini M, Carafoli E.

Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14514-9. doi: 10.1073/pnas.1207488109. Epub 2012 Aug 21.

39.

Migratory, and not lymphoid-resident, dendritic cells maintain peripheral self-tolerance and prevent autoimmunity via induction of iTreg cells.

Vitali C, Mingozzi F, Broggi A, Barresi S, Zolezzi F, Bayry J, Raimondi G, Zanoni I, Granucci F.

Blood. 2012 Aug 9;120(6):1237-45. doi: 10.1182/blood-2011-09-379776. Epub 2012 Jul 3.

PMID:
22760781
40.

CD14 and NFAT mediate lipopolysaccharide-induced skin edema formation in mice.

Zanoni I, Ostuni R, Barresi S, Di Gioia M, Broggi A, Costa B, Marzi R, Granucci F.

J Clin Invest. 2012 May;122(5):1747-57. doi: 10.1172/JCI60688. Epub 2012 Apr 2.

41.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

42.

CD14 controls the LPS-induced endocytosis of Toll-like receptor 4.

Zanoni I, Ostuni R, Marek LR, Barresi S, Barbalat R, Barton GM, Granucci F, Kagan JC.

Cell. 2011 Nov 11;147(4):868-80. doi: 10.1016/j.cell.2011.09.051.

43.

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E.

Eur J Paediatr Neurol. 2012 May;16(3):248-56. doi: 10.1016/j.ejpn.2011.07.016. Epub 2011 Aug 27.

44.

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES.

Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12.

PMID:
21484435
45.

Use of electrical conductivity of amniotic fluid in the evaluation of fetal lung maturation.

Pachì A, De Luca F, Cametti C, Barresi S, Berta S.

Fetal Diagn Ther. 2001 Mar-Apr;16(2):90-4. Review.

PMID:
11173954
46.

Assessment of the dairy production needs of cattle owners in southeastern Sicily.

Licitra G, Blake RW, Oltenacu PA, Barresi S, Scuderi S, Van Soest PJ.

J Dairy Sci. 1998 Sep;81(9):2510-7.

47.

[A case of fetal craniorachischisis. Early echographic diagnosis].

Papini A, Cervadoro O, Barresi S, Cosentino P.

Minerva Ginecol. 1990 Apr;42(4):157-8. Italian.

PMID:
2193252
48.

[Rupture of the uterus in the ninth week due to an angular pregnancy. Clinical case].

Papini A, Barresi S, Cervadoro O, Cosentino P.

Minerva Ginecol. 1989 Aug;41(8):421-3. Italian.

PMID:
2812495

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