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Items: 1 to 50 of 234

1.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.

Mura M, Bastaroli F, Corli M, Ginevrino M, Calabrò F, Boni M, Crotti L, Valente EM, Schwartz PJ, Gnecchi M.

Stem Cell Res. 2019 Nov 20;42:101658. doi: 10.1016/j.scr.2019.101658. [Epub ahead of print]

2.

Healthcare recommendations for Joubert syndrome.

Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D.

Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Review.

PMID:
31710777
3.

A novel IRF2BPL truncating variant is associated with endolysosomal storage.

Ginevrino M, Battini R, Nuovo S, Simonati A, Micalizzi A, Contaldo I, Serpieri V, Valente EM.

Mol Biol Rep. 2019 Nov 21. doi: 10.1007/s11033-019-05109-7. [Epub ahead of print]

PMID:
31583567
4.

Toward the elimination of bias in Pediatric Research.

Bearer C, Agostoni C, Anand KJS, Ambalavanan N, Bhandari V, Bliss JM, Bloomfield F, Bonifacio SL, Buhimschi I, Cilio MR, Coppes M, Czinn SJ, El-Khuffash A, Embleton N, Felderhoff-Müser U, Ferriero DM, Florin T, Fuentes-Afflick E, Gardner W, Gospe SM Jr, Gunn A, Gressens P, Guissani D, Haiden N, Hauptman M, Kim KS, Klebanoff M, Lachman P, Lanphear B, Ozen S, Roehr C, Roland D, Rosenblum N, Schwarz M, Staiano A, Stroustrup A, Valente EM, Wilson-Costello D, Wynn J, Molloy E.

Pediatr Res. 2019 Dec;86(6):680-681. doi: 10.1038/s41390-019-0583-5. Epub 2019 Sep 18. No abstract available.

PMID:
31533126
5.

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

Jain S, Bhasin H, Romani M, Valente EM, Sharma S.

J Pediatr Neurosci. 2019 Apr-Jun;14(2):90-93. doi: 10.4103/jpn.JPN_91_18.

6.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10.

PMID:
31481303
7.

Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.

Menozzi E, Balint B, Latorre A, Valente EM, Rothwell JC, Bhatia KP.

Mov Disord. 2019 Nov;34(11):1588-1601. doi: 10.1002/mds.27822. Epub 2019 Aug 26. Review.

PMID:
31449710
8.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM.

Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247.

9.

Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.

Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M.

Stem Cell Res. 2019 Aug;39:101510. doi: 10.1016/j.scr.2019.101510. Epub 2019 Jul 24.

10.

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.

Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EM, Vescovi AL, Rosati J.

Stem Cell Res. 2019 Jul;38:101480. doi: 10.1016/j.scr.2019.101480. Epub 2019 Jun 5.

11.

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Dordoni C, Prefumo F, Iascone M, Pinelli L, Palumbo G, Bondioni MP, Savoldi G, Donzelli C, Sartori E, Valente EM, Izzi C.

Prenat Diagn. 2019 Jul;39(8):652-655. doi: 10.1002/pd.5494. Epub 2019 Jul 2. No abstract available.

PMID:
31158925
12.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M.

Stem Cell Res. 2019 May;37:101437. doi: 10.1016/j.scr.2019.101437. Epub 2019 Apr 13.

13.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.

Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M.

Stem Cell Res. 2019 May;37:101431. doi: 10.1016/j.scr.2019.101431. Epub 2019 Mar 27.

14.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.

Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M.

Stem Cell Res. 2019 Apr;36:101416. doi: 10.1016/j.scr.2019.101416. Epub 2019 Mar 6.

15.

LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body.

Morgante F, Valente EM.

Mov Disord. 2019 Jan;34(1):47. doi: 10.1002/mds.27593. Epub 2018 Dec 30. No abstract available.

PMID:
30597596
16.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2018 Nov 6. doi: 10.1093/ndt/gfy333. [Epub ahead of print]

PMID:
30403813
17.

Author Correction: Dystonia.

Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP.

Nat Rev Dis Primers. 2018 Oct 19;4(1):37. doi: 10.1038/s41572-018-0039-y.

PMID:
30341354
18.

Dystonia.

Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP.

Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. Review. Erratum in: Nat Rev Dis Primers. 2018 Oct 19;4(1):37.

PMID:
30237473
19.

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies.

Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL.

Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2.

20.

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Arrigoni F, Romaniello R, Peruzzo D, Poretti A, Bassi MT, Pierpaoli C, Valente EM, Nuovo S, Boltshauser E, Huisman TAGM, Triulzi F, Borgatti R.

Eur Radiol. 2019 Feb;29(2):770-782. doi: 10.1007/s00330-018-5610-0. Epub 2018 Jul 31.

PMID:
30066250
21.

Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.

Toma C, Ruberto G, Marzi F, Vandelli G, Signorini S, Valente EM, Antonini M, Bertone C, Bianchi PE.

Doc Ophthalmol. 2018 Aug;137(1):25-36. doi: 10.1007/s10633-018-9646-x. Epub 2018 Jul 10.

PMID:
29987673
22.

Genetics of cerebellar disorders.

Valente EM, Nuovo S, Doherty D.

Handb Clin Neurol. 2018;154:267-286. doi: 10.1016/B978-0-444-63956-1.00016-3. Review.

PMID:
29903444
23.

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.

Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM.

Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25. No abstract available.

24.

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS.

Mol Genet Genomic Med. 2018 May 16. doi: 10.1002/mgg3.411. [Epub ahead of print]

25.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

Mura M, Ginevrino M, Zappatore R, Pisano F, Boni M, Castelletti S, Crotti L, Valente EM, Schwartz PJ, Gnecchi M.

Stem Cell Res. 2018 May;29:170-173. doi: 10.1016/j.scr.2018.04.003. Epub 2018 Apr 6.

26.

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.

Mura M, Lee YK, Ginevrino M, Zappatore R, Pisano F, Boni M, Dagradi F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M.

Stem Cell Res. 2018 May;29:157-161. doi: 10.1016/j.scr.2018.04.002. Epub 2018 Apr 7.

27.

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.

Stamelou M, Petrucci S, Ginevrino M, Pons R, Papagiannakis N, Stefanis L, Valente EM.

J Neurol Sci. 2018 May 15;388:158. doi: 10.1016/j.jns.2018.03.026. Epub 2018 Mar 16. No abstract available.

PMID:
29627013
28.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.

Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.

PMID:
29605658
29.

Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key.

Valente EM, Bhatia KP.

Cell. 2018 Feb 22;172(5):889-891. doi: 10.1016/j.cell.2018.02.022.

30.

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).

Rosati J, Altieri F, Tardivo S, Turco EM, Goldoni M, Spasari I, Ferrari D, Bernardini L, Lamorte G, Valente EM, Vescovi AL.

Stem Cell Res. 2018 Mar;27:74-77. doi: 10.1016/j.scr.2018.01.012. Epub 2018 Jan 9.

31.

The multiple faces of TOR1A: different inheritance, different phenotype.

Ginevrino M, Valente EM.

Brain. 2017 Nov 1;140(11):2764-2767. doi: 10.1093/brain/awx260. No abstract available.

PMID:
29088347
32.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

33.

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
34.

Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication.

Petrucci S, Ferrazzano G, Ginevrino M, Tolve M, Berardelli I, Berardelli A, Fabbrini G, Valente EM.

Mov Disord Clin Pract. 2017 Sep 8;4(6):889-892. doi: 10.1002/mdc3.12531. eCollection 2017 Nov-Dec. No abstract available.

35.

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.

Arrigoni F, Romaniello R, Peruzzo D, De Luca A, Parazzini C, Valente EM, Borgatti R, Triulzi F.

AJNR Am J Neuroradiol. 2017 Dec;38(12):2385-2390. doi: 10.3174/ajnr.A5360. Epub 2017 Aug 24.

36.

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.

Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E.

Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3303-3312. doi: 10.1016/j.bbadis.2017.08.006. Epub 2017 Aug 12.

37.

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
38.

PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation.

Gelmetti V, De Rosa P, Torosantucci L, Marini ES, Romagnoli A, Di Rienzo M, Arena G, Vignone D, Fimia GM, Valente EM.

Autophagy. 2017 Apr 3;13(4):654-669. doi: 10.1080/15548627.2016.1277309. Epub 2017 Feb 17.

39.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R.

Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.

40.

Early-onset head titubation in a child with Poretti-Boltshauser syndrome.

Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G.

Neurology. 2017 Apr 11;88(15):1478-1479. doi: 10.1212/WNL.0000000000003823. Epub 2017 Mar 10. No abstract available.

PMID:
28283601
41.

KMT2B: A new twist in dystonia genetics.

Balint B, Valente EM.

Mov Disord. 2017 Apr;32(4):529. doi: 10.1002/mds.26957. Epub 2017 Feb 20. No abstract available.

PMID:
28218417
42.

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG.

Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.

43.

Motile and non-motile cilia in human pathology: from function to phenotypes.

Mitchison HM, Valente EM.

J Pathol. 2017 Jan;241(2):294-309. doi: 10.1002/path.4843. Review. Erratum in: J Pathol. 2017 Mar;241(4):564.

PMID:
27859258
44.

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form.

Makovac E, Cercignani M, Serra L, Torso M, Spanò B, Petrucci S, Ricciardi L, Ginevrino M, Caltagirone C, Bentivoglio AR, Valente EM, Bozzali M.

PLoS One. 2016 Oct 27;11(10):e0163980. doi: 10.1371/journal.pone.0163980. eCollection 2016.

45.

DYT2 screening in early-onset isolated dystonia.

Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B.

Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13.

PMID:
27771228
46.

PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease.

Arena G, Valente EM.

J Pathol. 2017 Jan;241(2):251-263. doi: 10.1002/path.4815. Epub 2016 Nov 12. Review.

PMID:
27701735
47.

Impulsive-compulsive behaviors in parkin-associated Parkinson disease.

Morgante F, Fasano A, Ginevrino M, Petrucci S, Ricciardi L, Bove F, Criscuolo C, Moccia M, De Rosa A, Sorbera C, Bentivoglio AR, Barone P, De Michele G, Pellecchia MT, Valente EM.

Neurology. 2016 Oct 4;87(14):1436-1441. Epub 2016 Sep 2.

48.

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D.

Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17.

PMID:
27530364
49.

Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier.

Picillo M, Petrucci S, Valente EM, Pappatà S, Squame F, Ginevrino M, Pace L, Barone P, Pellecchia MT.

Mov Disord Clin Pract. 2016 Jul 27;4(3):444-446. doi: 10.1002/mdc3.12406. eCollection 2017 May-Jun. No abstract available.

50.

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM.

Neurogenetics. 2016 Jul;17(3):191-5. doi: 10.1007/s10048-016-0488-y. Epub 2016 Jun 2.

PMID:
27251579

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