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2009 1
2010 2
2011 1
2012 3
2013 2
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2019 3
2020 1
2021 3
2022 2
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21 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: altuzarra c. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: altuzarra cd. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. Le Roux M, et al. Among authors: altuzarra c. Eur J Paediatr Neurol. 2021 Jul;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Epub 2021 May 26. Eur J Paediatr Neurol. 2021. PMID: 34102571 Free article.
An All-Dielectric Metasurface Polarimeter.
Shah YD, Dada AC, Grant JP, Cumming DRS, Altuzarra C, Nowack TS, Lyons A, Clerici M, Faccio D. Shah YD, et al. Among authors: altuzarra c. ACS Photonics. 2022 Oct 19;9(10):3245-3252. doi: 10.1021/acsphotonics.2c00395. Epub 2022 Sep 15. ACS Photonics. 2022. PMID: 36281330 Free PMC article.
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Wolking S, et al. Among authors: altuzarra cd. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737342 Free PMC article.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: altuzarra c. Hum Mutat. 2019 Oct;40(10):1713-1730. doi: 10.1002/humu.23778. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31050087
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: altuzarra c. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M. Di Meglio C, et al. Among authors: altuzarra c. Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29. Epilepsia. 2015. PMID: 26514728 Free article.
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: altuzarra c. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
21 results