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01/01/2025
Sleep-related changes in astrocytic biomarkers are modulated by APOE e4 genotype in cognitively unimpaired adults
Zhu, NL, Altuna, M, Arranz, J, Rodriguez-Baz, I, Sanchez-Saudinos, MB, Videla, L, Valldeneu, S, Carrera-Vega, M, Romero, S, Fortea, J, Lleo, A, Giménez, S, Alcolea, D. Sleep-related changes in astrocytic biomarkers are modulated by APOE e4 genotype in cognitively unimpaired adults. Brain Communications. 2025; 7(6)DOI:10.1093/braincomms/fcaf437. PMID:41268178. IF:(Q/D).
05/03/2024
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Ribeiro-Constante, J, Tristán-Noguero, A, Calvo, FFM, Ibañez-Mico, S, Segura, JLP, Ramos-Fernández, JM, Chicano, MDM, Leon, RC, Insuga, VS, Alguacil, EG, Davila, CV, Fernández-Jaén, A, Plans, L, Camacho, A, Visa-Reñé, N, Blazquez, MDMT, Paredes-Carmona, F, Marti-Carrera, I, Hernández-Fabián, A, Davi, MT, Sanchez, MC, Herraiz, LC, Pita, PF, Gonzalez, TB, O'Callaghan, M, Santa Polonia, FFI, Cazorla, MR, Lucas, MTF, González-Meneses, A, Sala-Coromina, J, Macaya, A, Lasa-Aranzasti, A, Cueto-González, AM, Parraga, FV, Plana, JC, Serrano, M, Alonso, X, Del Castillo-Berges, D, Schwartz-Palleja, M, Illescas, S, Camacho, AR, Capdevila, OS, García-Cazorla, A, Bayés, A, Alonso-Colmenero, I. Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy. Frontiers in Cell and Developmental Biology. 2024; 12DOI:10.3389/fcell.2024.1321282. PMID:38505260. IF:4.300(Q1/1D).
09/01/2024
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-inmouse model
Jung-Kc, K, Tristán-Noguero, A, Altankhuyag, A, Belenguer, DP, Prestegård, KS, Fernandez-Carasa, I, Baldeshi, AC, Bondarenko, MS, García-Cazorla, A, Consiglio, A, Martinez, A. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-inmouse model. JOURNAL OF INHERITED METABOLIC DISEASE. 2024; 47(3)DOI:10.1002/jimd.12702. PMID:38196161. IF:3.800(Q2/3D).
09/05/2023
Transcriptional diversity in specific synaptic gene sets discriminates cortical neuronal identity
Adam, AR, Martínez-López J.A., van der Spek, SJF, Sullivan, PF, Smit, AB, Hjerling-Leffler, J, Achsele, T, Andres-Alonso, M, Bagni, C, Bayes, A, Biederer, T, Brose, N, Chua, JJE, Coba, MP, Cornelisse, LN, de Juan-Sanz, J, Goldschmidt, HL, Gundelfinger, ED, Huganir, RL, Imig, C, Jahn, R, Jung, HJ, Kaeser, PS, Kim, E, Koopmans, F, Kreutz, MR, Lipstein, N, MacGillavry, HD, McPherson, PS, O'Connor, V, Pielot, R, Ryan, TA, Sala, C, Sheng, MR, Smalla, KH, Thomas, PD, Toonen, RF, van Weering, JRT, Verhage M., Verpelli, C. Transcriptional diversity in specific synaptic gene sets discriminates cortical neuronal identity. Biology Direct. 2023; 18(1)DOI:10.1186/s13062-023-00372-y. PMID:37161421. IF:5.700(Q1/1D).
21/04/2022
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Trubetskoy V., Pardiñas A.F., Qi T., Panagiotaropoulou G., Awasthi S., Bigdeli T.B., Chen C.-Y., Dennison C.A., Hall L.S., Lam M., Watanabe K., Frei O., Ge T., Harwood J.C., Magnusson S., Richards A.L., Sidorenko J., Wu Y., Zeng J., Grove J., Kim M., Li Z., Voloudakis G., Zhang W., Adams M., Agartz I., Atkinson E.G., Agerbo E., Al Eissa M., Albus M., Alexander M., Alizadeh B.Z., Alptekin K., Als T.D., Amin F., Arolt V., Arrojo M., Athanasiu L., Azevedo M.H., Bacanu S.A., Bass N.J., Begemann M., Belliveau R.A., Bene J., Benyamin B., Bergen S.E., Blasi G., Bobes J., Bonassi S., Braun A., Bressan R.A., Bromet E.J., Bruggeman R., Buckley P.F., Buckner R.L., Bybjerg-Grauholm J., Cahn W., Cairns M.J., Calkins M.E., Carr V.J., Castle D., Catts S.V., Chambert K.D., Chan R.C.K., Chaumette B., Cheng W., Cheung E.F.C., Chong S.A., Cohen D., Consoli A., Cordeiro Q., Costas J., Curtis C., Davidson M., Davis K.L., Degenhardt F., DeLisi L.E., Demontis D., Dickerson F., Dikeos D., Dinan T., Djurovic S., Duan J., Ducci G., Dudbridge F., Eriksson J.G., Fañanás L., Faraone S.V., Fiorentino A., Forstner A., Frank J., Freimer N.B., Frustaci A., Gadelha A., Genovese G., Gershon E.S., Giannitelli M., Giegling I., Giusti-Rodríguez P., Godard S., Goldstein J.I., González Peñas J., González-Pinto A., Gopal S., Gratten J., Green M.F., Greenwood T.A., Guillin O., Gülöksüz S., Gur R.E., Gur R.C., Gutiérrez B., Hahn E., Hakonarson H., Haroutunian V., Hartmann A.M., Harvey C., Hayward C., Henskens F.A., Herms S., Hoffmann P., Howrigan D.P., Ikeda M., Joa I., Julià A., Kähler A.K., Kam-Thong T., Kamatani Y., Karachanak-Yankova S., Kebir O., Keller M.C., Kelly B.J., Khrunin A., Kim S.-W., Klovins J., Kondratiev N., Konte B., Kraft J., Kubo M., Kucinskas V., Kucinskiene Z.A., Kusumawardhani A., Kuzelova-Ptackova H., Landi S., Lazzeroni L.C., Lee P.H., Legge S.E., Lehrer D.S., Lencer R., Lerer B., Lieberman J., Light G.A., Limborska S., Liu C.-M., Lönnqvist J., Loughland C.M., Lubinski J., Luykx J.J., Lynham A., Macek M., Jr, Mackinnon A., Magnusson P.K.E., Maher B.S., Maier W., Malaspina D., Mallet J., Marder S.R., Marsal S., Martin A.R., Martorell L., Mattheisen M., McCarley R.W., McDonald C., McGrath J.J., Medeiros H., Meier S., Melegh B., Melle I., Mesholam-Gately R.I., Metspalu A., Michie P.T., Milani L., Milanova V., Mitjans M., Molden E., Molina E., Molto M.D., Mondelli V., Moreno C., Morley C.P., Muntané G., Murphy K.C., Myin-Germeys I., Nenadic I., Nestadt G., Nikitina-Zake L., Noto C., Nuechterlein K.H., O’Brien N.L., O’Neill F.A., Oh S.-Y., Olincy A., Ota V.K., Pantelis C., Papadimitriou G.N., Parellada M., Paunio T., Pellegrino R., Periyasamy S., Perkins D.O., Pfuhlmann B., Pietiläinen O., Pimm J., Porteous D., Powell J.F., Quattrone D., Quested D., Radant A.D., Rampino A., Rapaport M.H., Rautanen A., Reichenberg A., Roe C., Roffman J.L., Roth J., Rothermundt M., Rutten B.P.F., Saker-Delye S., Salomaa V., Sanjuan J., Santoro M.L., Savitz A., Schall U., Scott R.J., Seidman L.J., Sharp S.I., Shi J., Siever L.J., Sigurdsson E., Sim K., Skarabis N., Slominsky P., So H.-C., Sobell J.L., Söderman E., Stain H.J., Steen N.E., Steixner-Kumar A.A., Stögmann E., Stone W.S., Straub R.E., Streit F., Strengman E., Stroup T.S., Subramaniam M., Sugar C.A., Suvisaari J., Svrakic D.M., Swerdlow N.R., Szatkiewicz J.P., Ta T.M.T., Takahashi A., Terao C., Thibaut F., Toncheva D., Tooney P.A., Torretta S., Tosato S., Tura G.B., Turetsky B.I., Üçok A., Vaaler A., Veijola J., Waddington J., Walter H., Waterreus A., Webb B.T., Weiser M., Williams N.M., Witt S.H., Wormley B.K., Wu J.Q., Xu Z., Yolken R., Zai C.C., Zhou W., Zhu F., Zimprich F., Atbasoglu E.C., Ayub M., Benner C., Bertolino A., Black D.W., Bray N.J., Breen G., Buccola N.G., Byerley W.F., Chen W.J., Cloninger C.R., Crespo-Facorro B., Donohoe G., Freedman R., Galletly C., Gandal M.J., Gennarelli M., Hougaard D.M., Hwu H.-G., Jablensky A.V., McCarroll S.A., Moran J.L., Mors O., Mortensen P.B., Müller-Myhsok B., Neil A.L., Nordentoft M., Pato M.T., Petryshen T.L., Pirinen M., Pulver A.E., Schulze T.G., Silverman J.M., Smoller J.W., Stahl E.A., Tsuang D.W., Vilella E., Wang S.-H., Xu S., Dai N., Wenwen Q., Agiananda F., Amir N., Antoni R., Arsianti T., Asmarahadi A., Diatri H., Djatmiko P., Irmansyah I., Khalimah S., Kusumadewi I., Kusumaningrum P., Lukman P.R., Nasrun M.W., Safyuni N.S., Prasetyawan P., Semen G., Siste K., Tobing H., Widiasih N., Wiguna T., Wulandari D., Evalina N., Hananto A.J., Ismoyo J.H., Marini T.M., Henuhili S., Reza M., Yusnadewi S., Abyzov A., Akbarian S., Ashley-Koch A., van Bakel H., Breen M., Brown M., Bryois J., Carlyle B., Charney A., Coetzee G., Crawford G., Dracheva S., Emani P., Farnham P., Fromer M., Galeev T., Gandal M., Gerstein M., Giase G., Girdhar K., Goes F., Grennan K., Gu M., Guerra B., Gursoy G., Hoffman G., Hyde T., Jaffe A., Jiang S., Jiang Y., Kefi A., Kim Y., Kitchen R., Lay F., Lee D., Li M., Liu C., Liu S., Mattei E., Navarro F., Pan X., Peters M.A., Pinto D., Pochareddy S., Polioudakis D., Purcaro M., Purcell S., Pratt H., Reddy T., Rhie S., Rozowsky J., Sanders S., Sestan N., Sethi A., Shi X., Shieh A., Swarup V., Szekely A., Wang D., Warrell J., Weissman S., Weng Z., White K., Wiseman J., Witt H., Won H., Wood S., Wu F., Xu X., Yao L., Zandi P., Arranz M.J., Bakker S., Bender S., Crepo-Facorro B., Hall J., Iyegbe C., Kahn R., Lawrie S., Lewis C., Lin K., Linszen D.H., Mata I., Walshe M., Weisbrod M., Achsel T., Andres-Alonso M., Bagni C., Bayés À., Biederer T., Brose N., Brown T.C., Chua J.J.E., Coba M.P., Cornelisse L.N., de Jong A.P.H., de Juan-Sanz J., Dieterich D.C., Feng G., Goldschmidt H.L., Gundelfinger E.D., Hoogenraad C., Huganir R.L., Imig C., Jahn R., Jung H., Kaeser P.S., Kim E., Koopmans F., Kreutz M.R., Lipstein N., MacGillavry H.D., Malenka R., McPherson P.S., O’Connor V., Pielot R., Ryan T.A., Sahasrabudhe D., Sala C., Sheng M., Smalla K.-H., Smit A.B., Südhof T.C., Thomas P.D., Toonen R.F., van Weering J.R.T., Verpelli C., Adolfsson R., Arango C., Baune B.T., Belangero S.I., Børglum A.D., Braff D., Bramon E., Buxbaum J.D., Campion D., Cervilla J.A., Cichon S., Collier D.A., Corvin A., Curtis D., Forti M.D., Domenici E., Ehrenreich H., Escott-Price V., Esko T., Fanous A.H., Gawlik M., Gejman P.V., Gill M., Glatt S.J., Golimbet V., Hong K.S., Hultman C.M., Hyman S.E., Iwata N., Jönsson E.G., Kahn R.S., Kennedy J.L., Khusnutdinova E., Kirov G., Knowles J.A., Krebs M.-O., Laurent-Levinson C., Lee J., Lencz T., Levinson D.F., Li Q.S., Liu J., Malhotra A.K., Malhotra D., McIntosh A., McQuillin A., Menezes P.R., Morgan V.A., Morris D.W., Mowry B.J., Murray R.M., Nimgaonkar V., Nöthen M.M., Ophoff R.A., Paciga S.A., Palotie A., Pato C.N., Qin S., Rietschel M., Riley B.P., Rivera M., Rujescu D., Saka M.C., Sanders A.R., Schwab S.G., Serretti A., Sham P.C., Stefánsson H., Stefansson K., Tsuang M.T., Vawter M.P., Weinberger D.R., Werge T., Wildenauer D.B., Yu X., Yue W., Holmans P.A., Pocklington A.J., Roussos P., Vassos E., Verhage M., Visscher P.M., Yang J., Posthuma D., Andreassen O.A., Kendler K.S., Owen M.J., Wray N.R., Daly M.J., Huang H., Neale B.M., Sullivan P.F., Ripke S., Walters J.T.R., O’Donovan M.C., de Haan L., van Amelsvoort T., van Winkel R., Gareeva A., Shi Y., St Clair D., van Os J., PsychENCODE. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. NATURE. 2022; 604(7906)DOI:10.1038/s41586-022-04434-5. PMID:35396580. IF:64.800(Q1/1D).
08/04/2022
Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection
Kilinc M., Arora V., Creson T.K., Rojas C., Le A.A., Lauterborn J., Wilkinson B., Hartel N., Graham N., Reich A., Gou G., Araki Y., Bayés À., Coba M., Lynch G., Miller C.A., Rumbaugh G.. Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection. eLife. 2022; 11DOI:10.7554/eLife.75707. PMID:35394425. IF:7.700(Q1/1D).