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Items: 1 to 20 of 66

1.

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients.

Corti A, Sota R, Dugo M, Calogero RA, Terragni B, Mantegazza M, Franceschetti S, Restelli M, Gasparini P, Lecis D, Chrzanowska KH, Delia D.

Sci Rep. 2019 Jan 24;9(1):651. doi: 10.1038/s41598-018-36912-0.

2.

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies.

Salgueiro-Pereira AR, Duprat F, Pousinha PA, Loucif A, Douchamps V, Regondi C, Ayrault M, Eugie M, Stunault MI, Escayg A, Goutagny R, Gnatkovsky V, Frassoni C, Marie H, Bethus I, Mantegazza M.

Neurobiol Dis. 2019 May;125:31-44. doi: 10.1016/j.nbd.2019.01.006. Epub 2019 Jan 17.

PMID:
30659983
3.

Hyperactive and anxiolytic-like behaviors result from loss of COUP-TFI/Nr2f1 in the mouse cortex.

Contesse T, Ayrault M, Mantegazza M, Studer M, Deschaux O.

Genes Brain Behav. 2019 Jan 17:e12556. doi: 10.1111/gbb.12556. [Epub ahead of print]

PMID:
30653836
4.

New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons.

Castagnola S, Delhaye S, Folci A, Paquet A, Brau F, Duprat F, Jarjat M, Grossi M, Béal M, Martin S, Mantegazza M, Bardoni B, Maurin T.

Front Mol Neurosci. 2018 Sep 27;11:342. doi: 10.3389/fnmol.2018.00342. eCollection 2018.

5.

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.

Dhifallah S, Lancaster E, Merrill S, Leroudier N, Mantegazza M, Cestèle S.

Front Mol Neurosci. 2018 Jul 9;11:232. doi: 10.3389/fnmol.2018.00232. eCollection 2018.

6.

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.

7.

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L.

Stem Cell Res. 2018 Jul;30:130-140. doi: 10.1016/j.scr.2018.05.019. Epub 2018 May 30.

8.

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.

Mantegazza M, Cestèle S.

Neurosci Lett. 2018 Feb 22;667:92-102. doi: 10.1016/j.neulet.2017.11.025. Epub 2017 Nov 10. Review.

PMID:
29129678
9.

Epilepsy: Advances in genetics and pathophysiology.

Mantegazza M.

Neurosci Lett. 2018 Feb 22;667:1-3. doi: 10.1016/j.neulet.2017.10.026. Epub 2017 Oct 18. No abstract available.

PMID:
29054433
10.

Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE).

Binini N, Sancini G, Villa C, Dal Magro R, Sansoni V, Rusconi R, Mantegazza M, Grioni D, Talpo F, Toselli M, Combi R.

Brain Res. 2017 Dec 15;1677:26-32. doi: 10.1016/j.brainres.2017.09.023. Epub 2017 Sep 23.

PMID:
28951233
11.

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.

Montani C, Ramos-Brossier M, Ponzoni L, Gritti L, Cwetsch AW, Braida D, Saillour Y, Terragni B, Mantegazza M, Sala M, Verpelli C, Billuart P, Sala C.

J Neurosci. 2017 Jul 12;37(28):6606-6627. doi: 10.1523/JNEUROSCI.3775-16.2017. Epub 2017 Jun 2.

12.

Post-translational dysfunctions in channelopathies of the nervous system.

Terragni B, Scalmani P, Franceschetti S, Cestèle S, Mantegazza M.

Neuropharmacology. 2018 Apr;132:31-42. doi: 10.1016/j.neuropharm.2017.05.028. Epub 2017 May 29. Review.

PMID:
28571716
13.

The impact of genetic and experimental studies on classification and therapy of the epilepsies.

Avanzini G, Mantegazza M, Terragni B, Canafoglia L, Scalmani P, Franceschetti S.

Neurosci Lett. 2018 Feb 22;667:17-26. doi: 10.1016/j.neulet.2017.05.026. Epub 2017 May 15. Review.

PMID:
28522348
14.

Homer1b/c clustering is impaired in Phelan-McDermid Syndrome iPSCs derived neurons.

Vicidomini C, Ponzoni L, Lim D, Schmeisser MJ, Reim D, Morello N, Orellana D, Tozzi A, Durante V, Scalmani P, Mantegazza M, Genazzani AA, Giustetto M, Sala M, Calabresi P, Boeckers TM, Sala C, Verpelli C.

Mol Psychiatry. 2017 May;22(5):637. doi: 10.1038/mp.2017.82. No abstract available.

PMID:
28428614
15.

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D, Sassone J, Yang Y, Galbardi B, Xenakis MN, Westra RL, Szklarczyk R, Lindsey P, Faber CG, Gerrits M, Merkies IS, Dib-Hajj SD, Mantegazza M, Waxman SG, Lauria G; PROPANE Study Group.

BMC Syst Biol. 2017 Feb 24;11(1):28. doi: 10.1186/s12918-016-0382-0.

16.

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis.

Khalfallah O, Jarjat M, Davidovic L, Nottet N, Cestèle S, Mantegazza M, Bardoni B.

Stem Cells. 2017 Feb;35(2):374-385. doi: 10.1002/stem.2505. Epub 2016 Oct 26.

17.

Ranolazine vs phenytoin: greater effect of ranolazine on the transient Na(+) current than on the persistent Na(+) current in central neurons.

Terragni B, Scalmani P, Colombo E, Franceschetti S, Mantegazza M.

Neuropharmacology. 2016 Nov;110(Pt A):223-236. doi: 10.1016/j.neuropharm.2016.06.029. Epub 2016 Jul 19.

PMID:
27450092
18.

Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice.

Vicidomini C, Ponzoni L, Lim D, Schmeisser MJ, Reim D, Morello N, Orellana D, Tozzi A, Durante V, Scalmani P, Mantegazza M, Genazzani AA, Giustetto M, Sala M, Calabresi P, Boeckers TM, Sala C, Verpelli C.

Mol Psychiatry. 2017 May;22(5):784. doi: 10.1038/mp.2016.70. Epub 2016 Apr 26. No abstract available.

PMID:
27113996
19.

Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice.

Vicidomini C, Ponzoni L, Lim D, Schmeisser MJ, Reim D, Morello N, Orellana D, Tozzi A, Durante V, Scalmani P, Mantegazza M, Genazzani AA, Giustetto M, Sala M, Calabresi P, Boeckers TM, Sala C, Verpelli C.

Mol Psychiatry. 2017 May;22(5):689-702. doi: 10.1038/mp.2016.30. Epub 2016 Mar 29. Erratum in: Mol Psychiatry. 2017 May;22(5):784.

20.

Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy.

De Stasi AM, Farisello P, Marcon I, Cavallari S, Forli A, Vecchia D, Losi G, Mantegazza M, Panzeri S, Carmignoto G, Bacci A, Fellin T.

Cereb Cortex. 2016 Apr;26(4):1778-94. doi: 10.1093/cercor/bhw002. Epub 2016 Jan 26.

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