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by Hengel, Holger and Bosso-Lefèvre, Célia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Andrews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 2018, Volume 59, Issue 2, pp. 389 - 402
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set... 
epilepsy | MAE | epilepsy genetics | SLC6A1 | MYOCLONIC-ASTATIC EPILEPSY | ATTENTION | GABA TRANSPORTERS | ILAE COMMISSION | CLASSIFICATION | TERMINOLOGY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | INTELLECTUAL DISABILITY | SEIZURES | POSITION PAPER | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Life Sciences | Genetics | Human genetics
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T. R. M and Stegmann, Alexander P. A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S. A and Agbahovbe, Ruky and Innes, A. Micheil and Au, P. Y. Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L. I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and The DDD study and DDD Study and DDD study
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0127066
...About the Authors: Lance H. Rodan Affiliation: Division of Neurology, Dept. of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ont... 
ENCEPHALOPATHY | SKELETAL-MUSCLE | MAGNESIUM | RESONANCE-SPECTROSCOPY | MULTIDISCIPLINARY SCIENCES | ACTIVITY ESTIMATION SCALE | EXERCISE | CHILDREN | Neuroimaging | Magnetic Resonance Spectroscopy | Humans | Male | MELAS Syndrome - metabolism | MELAS Syndrome - physiopathology | Case-Control Studies | Dose-Response Relationship, Drug | Rest - physiology | Young Adult | Arginine - pharmacology | Muscles - drug effects | Adolescent | MELAS Syndrome - drug therapy | Female | Exercise - physiology | Phosphocreatine - analogs & derivatives | Phosphocreatine - metabolism | Arginine - therapeutic use | Muscles - metabolism | Ergometry | Usage | Arginine | Nuclear magnetic resonance spectroscopy | Mitochondrial DNA | Research | Lactic acidosis | Health aspects | Mitochondrial encephalomyopathies | Risk factors | Pediatrics | Phosphorylation | Physical training | Disease | pH effects | Magnetic resonance spectroscopy | Ethics | Mitochondria | Exercise | Work capacity | Spectrum analysis | Physiology | Trends | Stroke-like episodes | Supplementation | Magnesium | Physical education | Hypomagnesemia | Siblings | Spectroscopy | Stroke | Magnetic resonance | Dietary supplements | Muscles | Adenosine diphosphate | Cystic fibrosis | Phosphocreatine | Metabolism | Medicine | Heart rate | Neurology | Musculoskeletal system | Physical fitness | Hospitals | Aerobic capacity | Mutation | MELAS syndrome | Acidosis | Females | Kinesiology
Journal Article
Nature medicine, ISSN 1546-170X, 2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
by Helbig, Katherine L and Lauerer, Robert J and Bahr, Jacqueline C and Souza, Ivana A and Myers, Candace T and Uysal, Betül and Schwarz, Niklas and Gandini, Maria A and Huang, Sun and Keren, Boris and Mignot, Cyril and Afenjar, Alexandra and Billette de Villemeur, Thierry and Héron, Delphine and Nava, Caroline and Valence, Stéphanie and Buratti, Julien and Fagerberg, Christina R and Soerensen, Kristina P and Kibaek, Maria and Kamsteeg, Erik-Jan and Koolen, David A and Gunning, Boudewijn and Schelhaas, H. Jurgen and Kruer, Michael C and Fox, Jordana and Bakhtiari, Somayeh and Jarrar, Randa and Padilla-Lopez, Sergio and Lindstrom, Kristin and Jin, Sheng Chih and Zeng, Xue and Bilguvar, Kaya and Papavasileiou, Antigone and Xing, Qinghe and Zhu, Changlian and Boysen, Katja and Vairo, Filippo and Lanpher, Brendan C and Klee, Eric W and Tillema, Jan-Mendelt and Payne, Eric T and Cousin, Margot A and Kruisselbrink, Teresa M and Wick, Myra J and Baker, Joshua and Haan, Eric and Smith, Nicholas and Sadeghpour, Azita and Davis, Erica E and Katsanis, Nicholas and Corbett, Mark A and MacLennan, Alastair H and Gecz, Jozef and Biskup, Saskia and Goldmann, Eva and Rodan, Lance H and Kichula, Elizabeth and Segal, Eric and Jackson, Kelly E and Asamoah, Alexander and Dimmock, David and McCarrier, Julie and Botto, Lorenzo D and Filloux, Francis and Tvrdik, Tatiana and Cascino, Gregory D and Klingerman, Sherry and Neumann, Catherine and Wang, Raymond and Jacobsen, Jessie C and Nolan, Melinda A and Snell, Russell G and Lehnert, Klaus and Sadleir, Lynette G and Anderlid, Britt-Marie and Kvarnung, Malin and Guerrini, Renzo and Friez, Michael J and Lyons, Michael J and Leonhard, Jennifer and Kringlen, Gabriel and Casas, Kari and El Achkar, Christelle M and Smith, Lacey A and Rotenberg, Alexander and Poduri, Annapurna and Sanchis-Juan, Alba and Carss, Keren J and Rankin, Julia and Zeman, Adam and Raymond, F. Lucy and Blyth, Moira and Kerr, Bronwyn and Ruiz, Karla and Urquhart, Jill and Hughes, Imelda and Banka, Siddharth and Hedrich, Ulrike B.S and Scheffer, Ingrid E and ... and Deciphering Developmental Disorders Study and Task Force for Neonatal Genomics and Deciphering Dev Disorders Study and Institute of Neuroscience and Physiology and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institutionen för neurovetenskap och fysiologi
American journal of human genetics, ISSN 0002-9297, 2018, Volume 103, Issue 5, pp. 666 - 678
Journal Article