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Items: 1 to 20 of 161

1.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

PMID:
30351409
2.

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.

Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D.

Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018.

3.

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.

Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D.

Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012. Epub 2018 Jun 21.

4.

A synthetic peptide that prevents cAMP regulation in mammalian hyperpolarization-activated cyclic nucleotide-gated (HCN) channels.

Saponaro A, Cantini F, Porro A, Bucchi A, DiFrancesco D, Maione V, Donadoni C, Introini B, Mesirca P, Mangoni ME, Thiel G, Banci L, Santoro B, Moroni A.

Elife. 2018 Jun 20;7. pii: e35753. doi: 10.7554/eLife.35753.

5.

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.

Meraviglia V, Benzoni P, Landi S, Murano C, Langione M, Motta BM, Baratto S, Silipigni R, Di Segni M, Pramstaller PP, DiFrancesco D, Gazzerro E, Barbuti A, Rossini A.

Stem Cell Res. 2018 Mar;27:25-29. doi: 10.1016/j.scr.2017.12.012. Epub 2017 Dec 18.

6.

Preferential myofibroblast differentiation of cardiac mesenchymal progenitor cells in the presence of atrial fibrillation.

Gambini E, Perrucci GL, Bassetti B, Spaltro G, Campostrini G, Lionetti MC, Pilozzi A, Martinelli F, Farruggia A, DiFrancesco D, Barbuti A, Pompilio G.

Transl Res. 2018 Feb;192:54-67. doi: 10.1016/j.trsl.2017.11.003. Epub 2017 Nov 27.

7.

Mammalian γ2 AMPK regulates intrinsic heart rate.

Yavari A, Bellahcene M, Bucchi A, Sirenko S, Pinter K, Herring N, Jung JJ, Tarasov KV, Sharpe EJ, Wolfien M, Czibik G, Steeples V, Ghaffari S, Nguyen C, Stockenhuber A, Clair JRS, Rimmbach C, Okamoto Y, Yang D, Wang M, Ziman BD, Moen JM, Riordon DR, Ramirez C, Paina M, Lee J, Zhang J, Ahmet I, Matt MG, Tarasova YS, Baban D, Sahgal N, Lockstone H, Puliyadi R, de Bono J, Siggs OM, Gomes J, Muskett H, Maguire ML, Beglov Y, Kelly M, Dos Santos PPN, Bright NJ, Woods A, Gehmlich K, Isackson H, Douglas G, Ferguson DJP, Schneider JE, Tinker A, Wolkenhauer O, Channon KM, Cornall RJ, Sternick EB, Paterson DJ, Redwood CS, Carling D, Proenza C, David R, Baruscotti M, DiFrancesco D, Lakatta EG, Watkins H, Ashrafian H.

Nat Commun. 2017 Nov 2;8(1):1258. doi: 10.1038/s41467-017-01342-5.

8.

The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.

Campostrini G, Bonzanni M, Lissoni A, Bazzini C, Milanesi R, Vezzoli E, Francolini M, Baruscotti M, Bucchi A, Rivolta I, Fantini M, Severi S, Cappato R, Crotti L, J Schwartz P, DiFrancesco D, Barbuti A.

Cardiovasc Res. 2017 Aug 1;113(10):1256-1265. doi: 10.1093/cvr/cvx122.

9.

A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.

Baruscotti M, Bucchi A, Milanesi R, Paina M, Barbuti A, Gnecchi-Ruscone T, Bianco E, Vitali-Serdoz L, Cappato R, DiFrancesco D.

Eur Heart J. 2017 Jan 21;38(4):280-288. doi: 10.1093/eurheartj/ehv582. No abstract available.

PMID:
28182231
10.

Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.

Biel S, Aquila M, Hertel B, Berthold A, Neumann T, DiFrancesco D, Moroni A, Thiel G, Kauferstein S.

Pflugers Arch. 2016 Oct;468(10):1663-71. doi: 10.1007/s00424-016-1870-1. Epub 2016 Aug 23.

PMID:
27553229
11.

How integrated are neurology and palliative care services? Results of a multicentre mapping exercise.

van Vliet LM, Gao W, DiFrancesco D, Crosby V, Wilcock A, Byrne A, Al-Chalabi A, Chaudhuri KR, Evans C, Silber E, Young C, Malik F, Quibell R, Higginson IJ; OPTCARE Neuro.

BMC Neurol. 2016 May 10;16:63. doi: 10.1186/s12883-016-0583-6.

12.

HCN4, Sinus Bradycardia and Atrial Fibrillation.

DiFrancesco D.

Arrhythm Electrophysiol Rev. 2015 May;4(1):9-13. doi: 10.15420/aer.2015.4.1.9. Epub 2015 Mar 15.

13.

Current understanding of the pathophysiological mechanisms responsible for inappropriate sinus tachycardia: role of the If "funny" current.

Baruscotti M, Bianco E, Bucchi A, DiFrancesco D.

J Interv Card Electrophysiol. 2016 Jun;46(1):19-28. doi: 10.1007/s10840-015-0097-y. Epub 2016 Jan 18. Review.

PMID:
26781742
14.

Cell-specific Dynamic Clamp analysis of the role of funny If current in cardiac pacemaking.

Ravagli E, Bucchi A, Bartolucci C, Paina M, Baruscotti M, DiFrancesco D, Severi S.

Prog Biophys Mol Biol. 2016 Jan;120(1-3):50-66. doi: 10.1016/j.pbiomolbio.2015.12.004. Epub 2015 Dec 21.

PMID:
26718599
15.

Higher cardiogenic potential of iPSCs derived from cardiac versus skin stromal cells.

Meraviglia V, Wen J, Piacentini L, Campostrini G, Wang C, Florio MC, Azzimato V, Fassina L, Langes M, Wong J, Miragoli M, Gaetano C, Pompilio G, Barbuti A, DiFrancesco D, Mascalzoni D, Pramstaller PP, Colombo GI, Chen HS, Rossini A.

Front Biosci (Landmark Ed). 2016 Jan 1;21:719-43.

PMID:
26709802
16.

Anacardic acid and thyroid hormone enhance cardiomyocytes production from undifferentiated mouse ES cells along functionally distinct pathways.

Re A, Nanni S, Aiello A, Granata S, Colussi C, Campostrini G, Spallotta F, Mattiussi S, Pantisano V, D'Angelo C, Biroccio A, Rossini A, Barbuti A, DiFrancesco D, Trimarchi F, Pontecorvi A, Gaetano C, Farsetti A.

Endocrine. 2016 Sep;53(3):681-8. doi: 10.1007/s12020-015-0751-2. Epub 2015 Nov 7.

PMID:
26547215
17.

Dysfunctional HCN ion channels in neurological diseases.

DiFrancesco JC, DiFrancesco D.

Front Cell Neurosci. 2015 Mar 10;6:174. doi: 10.3389/fncel.2015.00071. eCollection 2015.

18.

LEONARDO DA VINCI AND THE ORIGIN OF SEMEN.

Noble D, DiFrancesco D, Zancani D.

Notes Rec R Soc Lond. 2014 Dec 20;68(4):391-402.

19.

Exercise training reduces resting heart rate via downregulation of the funny channel HCN4.

D'Souza A, Bucchi A, Johnsen AB, Logantha SJ, Monfredi O, Yanni J, Prehar S, Hart G, Cartwright E, Wisloff U, Dobryznski H, DiFrancesco D, Morris GM, Boyett MR.

Nat Commun. 2014 May 13;5:3775. doi: 10.1038/ncomms4775.

20.

Cyclic dinucleotides bind the C-linker of HCN4 to control channel cAMP responsiveness.

Lolicato M, Bucchi A, Arrigoni C, Zucca S, Nardini M, Schroeder I, Simmons K, Aquila M, DiFrancesco D, Bolognesi M, Schwede F, Kashin D, Fishwick CW, Johnson AP, Thiel G, Moroni A.

Nat Chem Biol. 2014 Jun;10(6):457-62. doi: 10.1038/nchembio.1521. Epub 2014 Apr 28. Erratum in: Nat Chem Biol. 2014 Aug;10(8):692.

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