Search Results - Vinodh Narayanan

Refine Results
  1. 1
    Integrin-associated Protein Is a Ligand for the P84 Neural Adhesion Molecule

    Integrin-associated Protein Is a Ligand for the P84 Neural Adhesion Molecule by Peihua Jiang, Carl F. Lagenaur, Vinodh Narayanan

    Published 1999
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders

    Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders by Sampathkumar Rangasamy, Santosh R. D’Mello, Vinodh Narayanan

    Published 2013
    Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

    Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model by Sampathkumar Rangasamy, Shannon Olfers, Brittany Gerald, Alex Hilbert, Sean Svejda, Vinodh Narayanan

    Published 2016
    Get full text Get full text
    Pré-impressão
    Save to List
    Saved in:
  4. 4
    A gain-of-function mutation in the <i>GRIK2</i> gene causes neurodevelopmental deficits

    A gain-of-function mutation in the <i>GRIK2</i> gene causes neurodevelopmental deficits by Yomayra F. Guzmán, Keri Ramsey, Jacob R. Stolz, David W. Craig, Mathew J. Huentelman, Vinodh Narayanan, Geoffrey T. Swanson

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

    Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation by Garilyn Jentarra, Shannon Olfers, Stephen G. Rice, Nishit Srivastava, Gregg E. Homanics, Mary E. Blue, SakkuBai Naidu, Vinodh Narayanan

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1

    Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1 by Somasish Ghosh Dastidar, Farah H. Bardai, Chi Ma, Valerie Price, Varun Rawat, Pragya Verma, Vinodh Narayanan, Santosh R. D’Mello

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system

    Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system by Michael B. McCamy, Niamh Collins, Jorge Otero‐Millan, Mohammed Al-Kalbani, Stephen L. Macknik, Davis Coakley, Xoana G. Troncoso, Gerry Boyle, Vinodh Narayanan, Thomas R. Wolf, Susana Martínez‐Conde

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

    A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome by Isabelle Schrauwen, Szabolcs Szelinger, Ashley L. Siniard, Ahmet Kurdoglu, Jason J. Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W. Craig, Vinodh Narayanan, Matthew J. Huentelman

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience by Darcy A. Krueger, Jamie K. Capal, Paolo Curatolo, Orrin Devinsky, Kevin C. Ess, Michal Tzadok, Mary Kay Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jóźwiak, Petrus de Vries, Anna Jansen, Michael Wong, David Mowat, John A. Lawson, Stephanie Bruns, David Neal Franz

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Improved methods for RNAseq-based alternative splicing analysis

    Improved methods for RNAseq-based alternative splicing analysis by Rebecca F. Halperin, Apurva M. Hegde, Jessica D. Lang, Elizabeth A. Raupach, Vinodh Narayanan, Matt Huentelman, Newell Belnap, Anne-Marie Aziz, Keri Ramsey, Christophe Legendre, Winnie S. Liang, Patricia LoRusso, Aleksandar Sekulić, Jeffrey A. Sosman, Jeffrey M. Trent, Sampathkumar Rangasamy, Patrick Pirrotte, Nicholas J. Schork

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy by Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, Cavidan Nur Semerci Gündüz, Keiko Yanagihara, Elisa L. Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley L. Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    <i>KCNQ2</i> encephalopathy

    <i>KCNQ2</i> encephalopathy by J Gordon Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben‐Zeev, Lionel Carmant, Robert Flamini, Nishtha Joshi, Paul M. Levisohn, Eric D. Marsh, Srishti Nangia, Vinodh Narayanan, Xilma R. Ortiz‐González, Marc C. Patterson, Phillip L. Pearl, Brenda E. Porter, Keri Ramsey, Emily McGinnis, Maurizio Taglialatela, Molly Tracy, Baouyen Tran, Charu Venkatesan, Sarah Weckhuysen, Edward C. Cooper

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases by Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar J. Hernández, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, André Franke, Braden Boone, Shawn Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul R. Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients by Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G. L. Douglas, Mark P. Fitzgerald, Nicola Foulds, Cathérine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M. Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, V. Ramaekers, Sarah M. Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohács, Diana Rodriguez, David A. Dyment, Thomas Voets, Joris Vriens

    Published 2023
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations by Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation by Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder by Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies by Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis by Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: