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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Autoimmune synaptopathies.
Crisp SJ, Kullmann DM, Vincent A. Crisp SJ, et al. Nat Rev Neurosci. 2016 Feb;17(2):103-17. doi: 10.1038/nrn.2015.27. Nat Rev Neurosci. 2016. PMID: 26806629 Review.
Neurological channelopathies.
Kullmann DM. Kullmann DM. Annu Rev Neurosci. 2010;33:151-72. doi: 10.1146/annurev-neuro-060909-153122. Annu Rev Neurosci. 2010. PMID: 20331364 Review.
The Role of Calcium Channels in Epilepsy.
Rajakulendran S, Hanna MG. Rajakulendran S, et al. Cold Spring Harb Perspect Med. 2016 Jan 4;6(1):a022723. doi: 10.1101/cshperspect.a022723. Cold Spring Harb Perspect Med. 2016. PMID: 26729757 Free PMC article. Review.
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. Gardiner AR, et al. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Brain. 2015. PMID: 26598494 Free PMC article. Review.
Episodic ataxia type 1: a neuronal potassium channelopathy.
Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Rajakulendran S, et al. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007.01.010. Neurotherapeutics. 2007. PMID: 17395136 Free article. Review.
57 results