Growth charts in Kabuki syndrome 1

Autor: Claire Jeandel, Caroline Michot, Odile Boute, Mario Abaji, Stanislas Lyonnet, Julie Reversat, Lucile Pinson, Sandrine Akouete, Bertrand Isidor, Marie-Ange Delrue, Valérie Cormier-Daire, Isabelle Touitou, Pierre Sarda, Bérénice Doray, Tiffany Busa, Anne Moncla, Véra Georgescu, Alice Goldenberg, Damien Sanlaville, Cyril Amouroux, Elodie Sanchez, Mélanie Fradin, Guilaine Boursier, Didier Lacombe, Mouna Barat-Houari, Annick Toutain, Brigitte Gilbert-Dussardier, David Geneviève, Fabienne Giuliano, Kim Hanh Le Quan Sang, Joelle Roume, Marianne Till, Yves Alembick, Nicole Philip, Elise Schaefer, Marjolaine Willems, Claire Duflos, Aurélia Jacquette, Eudeline Alix, Sébastien Moutton, Adeline Bonnard, Vincent Gatinois, Marie-Pierre Cordier, Clarisse Baumann, Martine Le Merrer, Marie-Line Jacquemont, Lydie Burglen, Valentin Ruault, Laurence Faivre, Carole Corsini, Sylvie Manouvrier, Svetlana Gorokhova, Anna Pelet, Delphine Héron, Sylvie Odent, Jeanne Amiel

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718fdf522c2745d8a8745a662e693f8e
https://hal.umontpellier.fr/hal-03388687

Backward disequilibrium in elderly subjects

Autor: Manckoundia, Patrick, Mourey, France, Pérennou, Dominic, Pfitzenmeyer, Pierre

Publikováno v: Clinical Interventions in Aging
Clinical Interventions in Aging, Dove Medical Press, 2008, 3 (4), pp.667-72
Clinical Interventions in Aging, Vol Volume 3, Pp 667-672 (2008)

Patrick Manckoundia1,2, France Mourey1,2, Dominic Pérennou2,3, Pierre Pfitzenmeyer1,21Department of Internal Medicine and Geriatrics, University Hospital, Dijon, France; 2INSERM/ERIT-M 0207 Motricity-Plasticity University of Burgundy, Dijon, France;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e9e2d91073006f08512f787db75ad91
https://doi.org/10.2147/cia.s3811

Neural networks underlying parietal lobe seizures: a quantified study from intracerebral recordings

Autor: Martine Gavaret, Fabrice Wendling, Russell Hewett, Jean Régis, Fabrice Bartolomei, Patrick Chauvel, Luc Valton, Sandrine Aubert

Publikováno v: Epilepsy Research
Epilepsy Research, Elsevier, 2011, 93 (2-3), pp.164-76. ⟨10.1016/j.eplepsyres.2010.12.005⟩
Epilepsy Research, 2011, 93 (2-3), pp.164-76. ⟨10.1016/j.eplepsyres.2010.12.005⟩

International audience; In this study we have quantified the "epileptogenicity" of several brain regions in seizures originating in the posterior parietal cortex in 17 patients investigated by intracerebral recordings using stereotactic EEG (SEEG). E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9251935410ef4c4114fadd3545f1c473
https://pubmed.ncbi.nlm.nih.gov/21227653

Skull vibration induced nystagmus test

Autor: Dumas, G., De Waele, C., Hamann, K. F., Cohen, B., Negrevergne, M., Ulmer, E., Schmerber, S.

Publikováno v: Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Société d'oto-laryngologie des hôpitaux de Paris
Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Société d'oto-laryngologie des hôpitaux de Paris, 2007, 124 (4), pp.173-83. ⟨10.1016/j.aorl.2007.05.001⟩
Annales d'oto-laryngologie et de chirurgie cervico faciale : bulletin de la Société d'oto-laryngologie des hôpitaux de Paris, 2007, 124 (4), pp.173-83. <10.1016/j.aorl.2007.05.001>

OBJECTIVES: To establish during a consensus meeting the fundamental basis, the validity criteria, the main indications and results of the skull vibration induced nystagmus test (SVINT) which explores the vestibule high frequencies. MATERIAL AND METHO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e12e3d3dc1a105fbba6cc73bf901d703
https://hal.archives-ouvertes.fr/hal-00306358

Balance Function Assessment and Management, Third Edition

Autor: Gary P. Jacobson, Neil T. Shepard, Kamran Barin, Robert F. Burkard, Kristen Janky, Devin L. McCaslin

The third edition of Balance Function Assessment and Management, the leading textbook on the subject, continues to comprehensively address the assessment and treatment of balance system impairments through contributions from top experts in the areas