Results 251 to 260 of about 501,307 (362)

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review. [PDF]

Front Genet
Jiang L, Li J, Han A, Hou F, Wei X, Tian Y.   +5 more
europepmc   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

Designing New Natural‐Mimetic Phosphatidic Acid: A Versatile and Innovative Synthetic Strategy for Glycerophospholipid Research

Angewandte Chemie, EarlyView.
We report the role of the fatty acyl chains in biological activities of phosphatidic acids (PA). Several PA probes having two different fatty acyl chains were synthesized through a multi‐steps synthesis and bearing various fluorophores or photo‐cross‐linkers (PCL).
Antoine Schlichter, Alexander Wolf, Thomas Ferrand, Aurelien Cocq, Lina Riachy, Steven Vertueux, Brice Beauvais, Marine Courvalet, Paul‐Joël Henry, Emeline Tanguy, Louis Gonzales, Rémy Ferlet, Fanny Laguerre, Charles Decraene, Alexia Pellissier, Muriel Sebban, Cyrille Sabot, Lydie Jeandel, Sarah Cianférani, Jean‐Marc Strub, Magalie Bénard, Victor Flon, Valérie Peulon‐Agasse, Pascal Cardinael, Stéphane Ory, Stéphane Gasman, Pierre‐Yves Renard, Maïté Montero‐Hadjadje, Nicolas Vitale, Sébastien Balieu   +29 more
wiley   +2 more sources

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

Volumetric MRI Comparing Longitudinal Change in MOGAD to NMOSD, MS and Healthy Controls, and Disability Associations

Annals of Neurology, EarlyView.
Objectives To examine volumetric magnetic resonance imaging (vMRI) in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), compared to multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and healthy controls (HC). Methods Standardized vMRI in MOGAD were compared to age, sex, and disease duration matched MS (5:1),
Amy Kunchok, Moein Amin, Tatchaporn Ongphichetmetha, Mengke Du, Robert Bermel, Tucker Harvey, Justin R. Abbatemarco, Stephen E. Jones, Jeffrey A. Cohen, Daniel Ontaneda, Kunio Nakamura   +10 more
wiley   +1 more source

Ovarian Cancer in Women with Intellectual Disability: Current Data. [PDF]

Cancers (Basel)
Trétarre B, Satgé D.
europepmc   +1 more source

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A. [PDF]

J Hum Genet
Gunelson AM, Kim KS, Steigerwald CG, Segal D, Abreu NJ, Yi JJ.   +5 more
europepmc   +1 more source

Self-Directed Learning of Child-Care Skills by Parents With Intellectual Disabilities

, 2004
Maurice A. Feldman
openalex   +1 more source