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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. Among authors: chez m. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Simmons RL, Li H, Alten B, Santos MS, Jiang R, Paul B, Lalani SJ, Cortesi A, Parks K, Khandelwal N, Smith-Packard B, Phoong MA, Chez M, Fisher H, Scheuerle AE, Shinawi M, Hussain SA, Kavalali ET, Sherr EH, Voglmaier SM. Simmons RL, et al. Among authors: chez m. Hum Mutat. 2020 Nov;41(11):1999-2011. doi: 10.1002/humu.24109. Epub 2020 Oct 1. Hum Mutat. 2020. PMID: 32906212 Free PMC article.
Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy.
Connolly AM, Chez M, Streif EM, Keeling RM, Golumbek PT, Kwon JM, Riviello JJ, Robinson RG, Neuman RJ, Deuel RM. Connolly AM, et al. Among authors: chez m. Biol Psychiatry. 2006 Feb 15;59(4):354-63. doi: 10.1016/j.biopsych.2005.07.004. Epub 2005 Sep 21. Biol Psychiatry. 2006. PMID: 16181614
Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.
Parker KJ, Garner JP, Oztan O, Tarara ER, Li J, Sclafani V, Del Rosso LA, Chun K, Berquist SW, Chez MG, Partap S, Hardan AY, Sherr EH, Capitanio JP. Parker KJ, et al. Among authors: chez mg. Sci Transl Med. 2018 May 2;10(439):eaam9100. doi: 10.1126/scitranslmed.aam9100. Sci Transl Med. 2018. PMID: 29720452 Free PMC article.
Antibodies to ACTH in opsoclonus-myoclonus.
Pranzatelli MR, Kao PC, Tate ED, Chaves E, Chez M, Dobyns WB, Kang H, Rothner DA. Pranzatelli MR, et al. Among authors: chez m. Neuropediatrics. 1993 Jun;24(3):131-3. doi: 10.1055/s-2008-1071529. Neuropediatrics. 1993. PMID: 8395029 Review.
34 results