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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.
Mol Psychiatry. 2018.
PMID: 27550844
Free PMC article.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.
Hu H, et al. Among authors: stuhlmann t.
Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.
Mol Psychiatry. 2016.
PMID: 25644381
Free PMC article.
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Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration.
Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ.
Weinert S, et al. Among authors: stuhlmann t.
EMBO J. 2020 May 4;39(9):e103358. doi: 10.15252/embj.2019103358. Epub 2020 Mar 2.
EMBO J. 2020.
PMID: 32118314
Free PMC article.
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LRRC8/VRAC anion channels enhance β-cell glucose sensing and insulin secretion.
Stuhlmann T, Planells-Cases R, Jentsch TJ.
Stuhlmann T, et al.
Nat Commun. 2018 May 17;9(1):1974. doi: 10.1038/s41467-018-04353-y.
Nat Commun. 2018.
PMID: 29773801
Free PMC article.
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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF.
Veeramah KR, et al. Among authors: stuhlmann t.
Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.
Epilepsia. 2013.
PMID: 23647072
Free PMC article.
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