Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D - European journal of human genetics : EJHG - Jul 2019
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Extracellular mild acidosis decreases the Ca permeability of the human NMDA receptors.
Plutino S, Sciaccaluga M, Fucile S - Cell calcium - Jun 2019
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Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth.
Lozovaya N, Nardou R, Tyzio R, Chiesa M, Pons-Bennaceur A, Eftekhari S, Bui TT, Billon-Grand M, Rasero J, Bonifazi P, Guimond D, Gaiarsa JL, Ferrari DC, Ben-Ari Y - Scientific reports - Jun 2019
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Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
Lesca G, Møller RS, Rudolf G, Hirsch E, Hjalgrim H, Szepetowski P - Epileptic disorders : international epilepsy journal with videotape - Mai 2019
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Respiratory sympathetic modulation is augmented in chronic kidney disease.
Saha M, Menuet C, Sun QJ, Burke PGR, Hildreth CM, Allen AM, Phillips JK - Respiratory physiology & neurobiology - Avr 2019
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Internal representation of hippocampal neuronal population spans a time-distance continuum.
Haimerl C, Angulo-Garcia D, Villette V, Reichinnek S, Torcini A, Cossart R, Malvache A - Proceedings of the National Academy of Sciences of the United States of America - Mar 2019
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TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A - Cell death and differentiation - Mar 2019
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Dynamic control of hippocampal spatial coding resolution by local visual cues.
Bourboulou R, Marti G, Michon FX, El Feghaly E, Nouguier M, Robbe D, Koenig J, Epsztein J - eLife - Mar 2019
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