Year |
Citation |
Score |
2022 |
Siafa L, Argilli E, Sherr EH, Myers KA. De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric Neurology. 131: 1-3. PMID 35436645 DOI: 10.1016/j.pediatrneurol.2022.03.005 |
0.511 |
|
2021 |
Gafner M, Michelson M, Argilli E, Yosovich K, Sherr EH, Parks KC, England EM, Hady-Cohen R, Leibovitz Z, Lev D, Michaeli-Yosef Y, Lerman-Sagie T, Blumkin L. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders. Journal of Human Genetics. PMID 34400773 DOI: 10.1038/s10038-021-00971-5 |
0.538 |
|
2021 |
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, et al. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of Medical Genetics. PMID 34321323 DOI: 10.1136/jmedgenet-2020-107470 |
0.489 |
|
2021 |
Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ. Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Molecular Autism. 12: 50. PMID 34238350 DOI: 10.1186/s13229-021-00442-w |
0.459 |
|
2021 |
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, ... ... Argilli E, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. American Journal of Human Genetics. PMID 34186028 DOI: 10.1016/j.ajhg.2021.06.003 |
0.543 |
|
2021 |
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, ... ... Argilli E, et al. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. PMID 34022130 DOI: 10.1016/j.ajhg.2021.04.024 |
0.528 |
|
2021 |
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, ... ... Argilli E, et al. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American Journal of Human Genetics. PMID 33894126 DOI: 10.1016/j.ajhg.2021.04.004 |
0.562 |
|
2019 |
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, ... ... Argilli E, et al. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics. 105: 854-868. PMID 31585109 DOI: 10.1016/J.Ajhg.2019.09.005 |
0.536 |
|
2013 |
Madhavan A, Argilli E, Bonci A, Whistler JL. Loss of D2 dopamine receptor function modulates cocaine-induced glutamatergic synaptic potentiation in the ventral tegmental area. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 12329-36. PMID 23884939 DOI: 10.1523/Jneurosci.0809-13.2013 |
0.602 |
|
2012 |
Güler AD, Rainwater A, Parker JG, Jones GL, Argilli E, Arenkiel BR, Ehlers MD, Bonci A, Zweifel LS, Palmiter RD. Transient activation of specific neurons in mice by selective expression of the capsaicin receptor. Nature Communications. 3: 746. PMID 22434189 DOI: 10.1038/Ncomms1749 |
0.532 |
|
2010 |
Ungless MA, Argilli E, Bonci A. Effects of stress and aversion on dopamine neurons: implications for addiction. Neuroscience and Biobehavioral Reviews. 35: 151-6. PMID 20438754 DOI: 10.1016/J.Neubiorev.2010.04.006 |
0.65 |
|
2008 |
Argilli E, Sibley DR, Malenka RC, England PM, Bonci A. Mechanism and time course of cocaine-induced long-term potentiation in the ventral tegmental area. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 9092-100. PMID 18784289 DOI: 10.1523/Jneurosci.1001-08.2008 |
0.641 |
|
2008 |
Zweifel LS, Argilli E, Bonci A, Palmiter RD. Role of NMDA receptors in dopamine neurons for plasticity and addictive behaviors. Neuron. 59: 486-96. PMID 18701073 DOI: 10.1016/J.Neuron.2008.05.028 |
0.606 |
|
2006 |
Schilström B, Yaka R, Argilli E, Suvarna N, Schumann J, Chen BT, Carman M, Singh V, Mailliard WS, Ron D, Bonci A. Cocaine enhances NMDA receptor-mediated currents in ventral tegmental area cells via dopamine D5 receptor-dependent redistribution of NMDA receptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 8549-58. PMID 16914681 DOI: 10.1523/Jneurosci.5179-05.2006 |
0.645 |
|
2004 |
Aicardi G, Argilli E, Cappello S, Santi S, Riccio M, Thoenen H, Canossa M. Induction of long-term potentiation and depression is reflected by corresponding changes in secretion of endogenous brain-derived neurotrophic factor. Proceedings of the National Academy of Sciences of the United States of America. 101: 15788-92. PMID 15505222 DOI: 10.1073/Pnas.0406960101 |
0.306 |
|
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