De Maria M - Search Results

1

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Millichap JJ, Miceli F, De Maria M, Keator C, Joshi N, Tran B, Soldovieri MV, Ambrosino P, Shashi V, Mikati MA, Cooper EC, Taglialatela M. Millichap JJ, et al. Among authors: de maria m. Epilepsia. 2017 Jan;58(1):e10-e15. doi: 10.1111/epi.13601. Epub 2016 Nov 9. Epilepsia. 2017. PMID: 27861786 Free PMC article.

2

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G. Soldovieri MV, et al. Among authors: de maria m. Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13. Hum Mutat. 2014. PMID: 24375629

3

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M. Miceli F, et al. Among authors: de maria m. J Neurosci. 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015. J Neurosci. 2015. PMID: 25740509 Free PMC article.

4

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.

Soldovieri MV, Ambrosino P, Mosca I, De Maria M, Moretto E, Miceli F, Alaimo A, Iraci N, Manocchio L, Medoro A, Passafaro M, Taglialatela M. Soldovieri MV, et al. Among authors: de maria m. Sci Rep. 2016 Dec 1;6:38167. doi: 10.1038/srep38167. Sci Rep. 2016. PMID: 27905566 Free PMC article.

5

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Manocchio L, Medoro A, Taglialatela M. Miceli F, et al. Among authors: de maria m. Front Cell Neurosci. 2015 Jul 15;9:259. doi: 10.3389/fncel.2015.00259. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26236192 Free PMC article. Review.

6

Functional and biochemical interaction between PPARα receptors and TRPV1 channels: Potential role in PPARα agonists-mediated analgesia.

Ambrosino P, Soldovieri MV, De Maria M, Russo C, Taglialatela M. Ambrosino P, et al. Among authors: de maria m. Pharmacol Res. 2014 Sep;87:113-22. doi: 10.1016/j.phrs.2014.06.015. Epub 2014 Jul 8. Pharmacol Res. 2014. PMID: 25014183

7

Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.

Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Ambrosino P, et al. Among authors: de maria m. Biochim Biophys Acta. 2015 Sep;1852(9):1856-66. doi: 10.1016/j.bbadis.2015.06.012. Epub 2015 Jun 12. Biochim Biophys Acta. 2015. PMID: 26073431 Free article.

8

A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.

Devaux J, Dhifallah S, De Maria M, Stuart-Lopez G, Becq H, Milh M, Molinari F, Aniksztejn L. Devaux J, et al. Among authors: de maria m. Epilepsia. 2017 Dec;58(12):2073-2084. doi: 10.1111/epi.13927. Epub 2017 Oct 25. Epilepsia. 2017. PMID: 29067685

9

Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq.

Paniagua A, Agustin-García C, Pardo-Palacios FJ, Brown T, De Maria M, Denslow ND, Mazzoni C, Conesa A. Paniagua A, et al. Among authors: de maria m. Genome Res. 2024 Dec 23:gr.279864.124. doi: 10.1101/gr.279864.124. Online ahead of print. Genome Res. 2024. PMID: 39715684 Free article.

10

Transformational Leadership and Its Impact on Job Satisfaction and Personal Mastery for Nursing Leaders in Healthcare Organizations.

Notarnicola I, Duka B, Lommi M, Grosha E, De Maria M, Iacorossi L, Mastroianni C, Ivziku D, Rocco G, Stievano A. Notarnicola I, et al. Among authors: de maria m. Nurs Rep. 2024 Nov 18;14(4):3561-3574. doi: 10.3390/nursrep14040260. Nurs Rep. 2024. PMID: 39585151 Free PMC article.

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