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Items: 21

1.

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 Aug 14. pii: awz247. doi: 10.1093/brain/awz247. [Epub ahead of print]

PMID:
31412107
2.

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.

3.

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.

4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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
11.

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.

12.

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.

13.

BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome.

Marsili L, Suppa A, Di Stasio F, Belvisi D, Upadhyay N, Berardelli I, Pasquini M, Petrucci S, Ginevrino M, Fabbrini G, Cardona F, Defazio G, Berardelli A.

Exp Brain Res. 2017 Mar;235(3):841-850. doi: 10.1007/s00221-016-4847-6. Epub 2016 Nov 30.

PMID:
27900437
14.

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.

15.

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
16.

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.

17.

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.

18.

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
19.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM.

Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.

20.

The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.

Ricciardi L, Petrucci S, Di Giuda D, Serra L, Spanò B, Sensi M, Ginevrino M, Cocciolillo F, Bozzali M, Valente EM, Fasano A.

Mov Disord. 2016 Feb;31(2):257-8. doi: 10.1002/mds.26549. Epub 2016 Jan 22. No abstract available.

PMID:
26799529
21.

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models.

Petrucci S, Ginevrino M, Valente EM.

Parkinsonism Relat Disord. 2016 Jan;22 Suppl 1:S16-20. doi: 10.1016/j.parkreldis.2015.08.015. Epub 2015 Aug 18. Review.

PMID:
26341711

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