PUBLICATIONS

CELIS-ePhys scientific outputs lead to co-authorship publications

2020

A calibrated optogenetic toolbox of stable zebrafish opsin lines. Antinucci P, Dumitrescu A, Deleuze C, Morley HJ, Leung K, Hagley T, Kubo F, Baier H, Bianco IH, Wyart C. Elife 2020 Mar 27;9. pii: e54937. [Epub ahead of print] PMID: 32216873.

2019

New role of P2X7 receptor in an Alzheimer’s disease mouse model. Martin E, Amar M, Dalle C, Youssef I, Boucher C, Le Duigou C, Brückner M, Prigent A, Sazdovitch V, Halle A, Kanellopoulos JM, Fontaine B, Delatour B, Delarasse C.  Mol Psychiatry, 2019 Jan;24(1):108-125. PMID: 29934546.

2018

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M, Muraca G, Roussel D, Navarro V, Leguern E, Miles R, Baulac S. J Clin Invest. 2018 Jun 1;128(6):2452-2458. PMID: 29708508.

A204E mutation in Na(v)1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs. Kokunai Y, Dalle C, Vicart S, Sternberg D, Pouliot V, Bendahhou S, Fournier E, Chahine M, Fontaine B, Nicole S. Sci Rep. 2018 Nov 12;8(1):16681. PMID: 30420713.

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. PMID: 30351409.

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish. de Calbiac H, Dabacan A, Marsan E, Tostivint H, Devienne G, Ishida S, Leguern E, Baulac S, Muresan RC, Kabashi E, Ciura S.  Ann Clin Transl Neurol. 2018 Apr 6;5(5):510-523. PMID: 29761115.

2016

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S, Duffaure S, Girard M, Foret B, Iannielli A, Broccoli V, Dalle C, Bohl D, Michel PP, Corvol JC, Brice A, Corti O. Hum Mol Genet. 2016 Jul 15;25(14):2972-2984. PMID: 27206984.

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S. J Neurol Sci. 2016 Oct 15;369:254-258. PMID: 27653901.

2014

De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C.  Nat Genet. 2014 Jun;46(6):640-5. PMID: 24747641.