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Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Among authors: karsenty c. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Cogné B, Doummar D, Karsenty C, Kenis S, Leguern E, Lesca G, Nava C, Nizon M, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C. Aubert Mucca M, et al. Among authors: karsenty c. J Med Genet. 2022 May;59(5):505-510. doi: 10.1136/jmedgenet-2020-107511. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811134
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM. Cabasson S, et al. Among authors: karsenty c. Eur J Paediatr Neurol. 2020 Sep;28:214-220. doi: 10.1016/j.ejpn.2020.06.002. Epub 2020 Jun 28. Eur J Paediatr Neurol. 2020. PMID: 32694024
[Respiratory syncytial virus brainstem encephalitis in a 7-year-old boy].
Tison-Chambellan C, Cheuret E, Cances C, Karsenty C, Le Camus C, Sevely A, Chaix Y. Tison-Chambellan C, et al. Among authors: karsenty c. Arch Pediatr. 2013 Jun;20(6):657-60. doi: 10.1016/j.arcped.2013.03.005. Epub 2013 Apr 30. Arch Pediatr. 2013. PMID: 23642896 Review. French.
[Guillain-Barré syndrome in a child with normal tendon reflexes].
Tellier S, Gerdelat-Mas A, Karsenty C, Cancès C, Tison C, Chaix Y, Cheuret E. Tellier S, et al. Among authors: karsenty c. Arch Pediatr. 2012 Jan;19(1):51-4. doi: 10.1016/j.arcped.2011.10.021. Epub 2011 Dec 9. Arch Pediatr. 2012. PMID: 22154102 French.
[Clear cell meningioma: recurrent intraspinal tumor in a child].
Cancès C, Chaix Y, Karsenty C, Boetto S, Sévely A, Delisle MB, Carrière JP. Cancès C, et al. Among authors: karsenty c. Arch Pediatr. 1998 Jul;5(7):758-62. doi: 10.1016/s0929-693x(98)80062-6. Arch Pediatr. 1998. PMID: 9759276 French.
Motor impairment in dyslexia: the influence of attention disorders.
Chaix Y, Albaret JM, Brassard C, Cheuret E, de Castelnau P, Benesteau J, Karsenty C, Démonet JF. Chaix Y, et al. Among authors: karsenty c. Eur J Paediatr Neurol. 2007 Nov;11(6):368-74. doi: 10.1016/j.ejpn.2007.03.006. Epub 2007 Apr 27. Eur J Paediatr Neurol. 2007. PMID: 17467315
[Severe hydrogen sulfide intoxication: a pediatric case of survival].
Claudet I, Marcoux MO, Karsenty C, Rittié JL, Honorat R, Lelong-Tissier MC. Claudet I, et al. Among authors: karsenty c. Ann Fr Anesth Reanim. 2012 Mar;31(3):255-8. doi: 10.1016/j.annfar.2011.12.007. Epub 2012 Feb 3. Ann Fr Anesth Reanim. 2012. PMID: 22305402 French.
113 results