Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Authors: Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim

Source: Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)

Subject Terms: PHF21A, BHC80, Intellectual disability (ID), Autism spectrum disorder (ASD), Neurodevelopmental disorders, Potocki-Shaffer syndrome (PSS), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-019-0286-0; https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/f02d9289960547e38357f179ca8011af

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents

Authors: Randi Hagerman, Sebastien Jacquemont, Elizabeth Berry-Kravis, Vincent Des Portes, Andrew Stanfield, Barbara Koumaras, Gerd Rosenkranz, Alessandra Murgia, Christian Wolf, George Apostol, Florian von Raison

Source: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)

Subject Terms: Mavoglurant, Core Studies, Fragile X Mental Retardation Protein (FMRP), Repetitive Behavior Scale-Revised (RBS-R), Extension Study Baseline, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/b0c86247e00a4aa7a01f18f018f9be46

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?

Authors: Aurore Curie, Gaëlle Friocourt, Vincent des Portes, Alice Roy, Tatjana Nazir, Amandine Brun, Anne Cheylus, Pascale Marcorelles, Kalliroi Retzepi, Nasim Maleki, Gérald Bussy, Yves Paulignan, Anne Reboul, Danielle Ibarrola, Jian Kong, Nouchine Hadjikhani, Annie Laquerrière, Randy L. Gollub

Source: NeuroImage: Clinical, Vol 19, Iss , Pp 454-465 (2018)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213158218301177; https://doaj.org/toc/2213-1582

Access URL: https://doaj.org/article/9be9ece93ce64db198aca31f822fa090

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Authors: Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva

Source: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301089; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/ae56b6265fa24c479aa4aa6363b6a984

Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)

Authors: Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Vincent des Portes, David Germanaud, Doris Steinemann, Gudrun Göhring, Renate König

Source: Stem Cell Research, Vol 41, Iss , Pp - (2019)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119302223; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/357b2ee2ab3e46e3991df1b14c7876f6

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Authors: Aurore Curie, Amandine Brun, Anne Cheylus, Anne Reboul, Tatjana Nazir, Gérald Bussy, Karine Delange, Yves Paulignan, Sandra Mercier, Albert David, Stéphanie Marignier, Lydie Merle, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Isabelle Mortemousque, Annick Toutain, Eric Bieth, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Jian Kong, Daniel Ott, Behrouz Kassai, Nouchine Hadjikhani, Randy L Gollub, Vincent des Portes

Source: PLoS ONE, Vol 11, Iss 2, p e0149717 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4771701?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/eff7ff0e7b314ab4a5f62e676d4d5faf

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.

Authors: Aurore Curie, Kathy Yang, Irving Kirsch, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Karin B Jensen

Source: PLoS ONE, Vol 10, Iss 7, p e0133316 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4520690?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3d7efb35a4164989b2f1f50db2de1614

Syntax at hand: common syntactic structures for actions and language.

Authors: Alice C Roy, Aurore Curie, Tatjana Nazir, Yves Paulignan, Vincent des Portes, Pierre Fourneret, Viviane Deprez

Source: PLoS ONE, Vol 8, Iss 8, p e72677 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23991140/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b7c99c2b0051437689757720fdb356cd

DefiGame, a serious game to discover neurodevelopmental disorders

Authors: C. Bonnet, C. Immesoete, Specialists and parents affiliated to the french rare disease network DéfiScience - Professeur Vincent des Portes, Mme Marie-Pierre Reymond, Mme Caroline Immesoete, Mme Fanny Forel, Mme ANTOINE Odile, Mme AUPETIT Laure, Mme BENOIT Céline, Docteur BROSSEA

Source: European Psychiatry, Vol 67, Pp S12-S12 (2024)

Subject Terms: Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S0924933824000567/type/journal_article; https://doaj.org/toc/0924-9338; https://doaj.org/toc/1778-3585

Access URL: https://doaj.org/article/cbf06113ecc84498b6d350ad3cfebf0b

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