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There are 380685 results for: content related to: An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

  1. Folinic acid–responsive seizures are identical to pyridoxine-dependent epilepsy

    Annals of Neurology

    Volume 65, Issue 5, May 2009, Pages: 550–556, Renata C. Gallagher, Johan L. K. Van Hove, Gunter Scharer, Keith Hyland, Barbara Plecko, Paula J. Waters, Saadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu, Gajja S. Salomons, Efraim H. Rosenberg, Eduard A. Struys and Cornelis Jakobs

    Article first published online : 13 JAN 2009, DOI: 10.1002/ana.21568

  2. You have full text access to this OnlineOpen article
    Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option

    Epilepsia

    Volume 54, Issue 2, February 2013, Pages: 239–248, Belén Pérez, Luis González Gutiérrez-Solana, Alfonso Verdú, Begoña Merinero, Patricia Yuste-Checa, Pedro Ruiz-Sala, Rocio Calvo, Anil Jalan, Laura López Marín, Oscar Campos, Maria Ángeles Ruiz, Marta San Miguel, Maria Vázquez, Margarita Castro, Isaac Ferrer, Rosa Navarrete, Lourdes Ruiz Desviat, Pablo Lapunzina, Magdalena Ugarte and Celia Pérez-Cerdá

    Article first published online : 25 JAN 2013, DOI: 10.1111/epi.12083

  3. You have full text access to this OnlineOpen article
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

    Epilepsia

    Volume 50, Issue 5, May 2009, Pages: 1167–1175, Craig L. Bennett, Yingzhang Chen, Sihoun Hahn, Ian A. Glass and Sidney M. Gospe Jr

    Article first published online : 14 OCT 2008, DOI: 10.1111/j.1528-1167.2008.01816.x

  4. Use of Acrylic Functionalized (Meth)acrylic Cross-Linked Polymer Microparticles in Photopolymerized Acrylic Films

    Macromolecular Materials and Engineering

    Volume 288, Issue 8, August 2003, Pages: 642–657, Ludovic Valette, Jean-Pierre Pascault and Benoît Magny

    Article first published online : 22 JUL 2003, DOI: 10.1002/mame.200300012

  5. You have full text access to this OnlineOpen article
    The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

    Epilepsia

    Volume 51, Issue 12, December 2010, Pages: 2406–2411, Levinus A. Bok, Natasha M. Maurits, Michèl A. Willemsen, Cornelis Jakobs, Laura K. Teune, Bwee Tien Poll-The, Irenaeus F. De Coo, Mona C. Toet, Eveline E. Hagebeuk, Oebele F. Brouwer, Johannes H. Van Der Hoeven and Deborah A. Sival

    Article first published online : 30 SEP 2010, DOI: 10.1111/j.1528-1167.2010.02747.x

  6. You have full text access to this OnlineOpen article
    Nutritional-rich and stress-tolerant crops by saccharopine pathway manipulation

    Food and Energy Security

    Volume 1, Issue 2, November 2012, Pages: 141–147, Paulo Arruda and Izabella Pena Neshich

    Article first published online : 2 AUG 2012, DOI: 10.1002/fes3.9

  7. You have free access to this content
    Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

    Human Mutation

    Volume 28, Issue 1, January 2007, Pages: 19–26, Barbara Plecko, Karl Paul, Eduard Paschke, Sylvia Stoeckler-Ipsiroglu, Eduard Struys, Cornelis Jakobs, Hans Hartmann, Thomas Luecke, Matteo di Capua, Christoph Korenke, Christiane Hikel, Elke Reutershahn, Michael Freilinger, Fritz Baumeister, Friedrich Bosch and Wolfgang Erwa

    Article first published online : 26 OCT 2006, DOI: 10.1002/humu.20433

  8. Amino acid sequence autocorrelation vectors and bayesian-regularized genetic neural networks for modeling protein conformational stability: Gene V protein mutants

    Proteins: Structure, Function, and Bioinformatics

    Volume 67, Issue 4, June 2007, Pages: 834–852, Leyden Fernández, Julio Caballero, José Ignacio Abreu and Michael Fernández

    Article first published online : 21 MAR 2007, DOI: 10.1002/prot.21349

  9. Is antiquitin a mitochondrial Enzyme?

    Journal of Cellular Biochemistry

    Volume 109, Issue 1, 1 January 2010, Pages: 74–81, Judy Wei-Yan Wong, Chi-Lung Chan, Wai-Kwan Tang, Christopher Hon-Ki Cheng and Wing-Ping Fong

    Article first published online : 2 NOV 2009, DOI: 10.1002/jcb.22381

  10. The mediating role of trauma-related symptoms in the relationship between sexual victimization and physical health symptomatology in undergraduate women

    Journal of Traumatic Stress

    Volume 25, Issue 1, February 2012, Pages: 79–85, Erin C. Tansill, Katie M. Edwards, Megan C. Kearns, Christine A. Gidycz and Karen S. Calhoun

    Article first published online : 21 FEB 2012, DOI: 10.1002/jts.21666

  11. Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures

    Journal of Paediatrics and Child Health

    Volume 48, Issue 3, March 2012, Pages: E113–E115, Nune S Yeghiazaryan, Federico Zara, Giuseppe Capovilla, Giorgia Brigati, Raffaele Falsaperla and Pasquale Striano

    Article first published online : 6 OCT 2010, DOI: 10.1111/j.1440-1754.2010.01866.x

  12. You have full text access to this OnlineOpen article
    Long-term outcome in pyridoxine-dependent epilepsy

    Developmental Medicine & Child Neurology

    Volume 54, Issue 9, September 2012, Pages: 849–854, LEVINUS A BOK, FEICO J HALBERTSMA, SASKIA HOUTERMAN, RON A WEVERS, CHARLOTTE VREESWIJK, CORNELIS JAKOBS, EDUARD STRUYS, JOHAN H VAN DER HOEVEN, DEBORAH A SIVAL and MICHÈL A WILLEMSEN

    Article first published online : 13 JUL 2012, DOI: 10.1111/j.1469-8749.2012.04347.x

  13. You have full text access to this OnlineOpen article
    Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures

    Epilepsia

    Volume 50, Issue 4, April 2009, Pages: 933–936, Pasquale Striano, Silvia Battaglia, Lucio Giordano, Giuseppe Capovilla, Francesca Beccaria, Eduard A. Struys, Gajja S. Salomons and Cornelis Jakobs

    Article first published online : 20 AUG 2008, DOI: 10.1111/j.1528-1167.2008.01741.x

  14. You have free access to this content
    Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

    Annals of Neurology

    Volume 75, Issue 1, January 2014, Pages: 22–32, Laura A. Jansen, Robert F. Hevner, William H. Roden, Si Houn Hahn, Sunhee Jung and Sidney M. Gospe Jr

    Article first published online : 2 JAN 2014, DOI: 10.1002/ana.24027

  15. The Depletion of Substituted Phenolic Stabilizers by Conjugate C-Addition to Acrylic Monomers in Multicomponent Systems

    Macromolecular Materials and Engineering

    Volume 297, Issue 10, October 2012, Pages: 1005–1013, Juraj Pavlinec, Angela Kleinová and Norbert Moszner

    Article first published online : 13 JUN 2012, DOI: 10.1002/mame.201100396

  16. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 158–166, Brandy A. Wicklow, Jennifer L. Ivanovich, Margot M. Plews, Timothy J. Salo, Michael J. Noetzel, Gregg T. Lueder, Luca Cartegni, Michael M. Kaback, Konrad Sandhoff, Robert D. Steiner and Barbara L. Triggs-Raine

    Article first published online : 5 FEB 2004, DOI: 10.1002/ajmg.a.20633

  17. Thermal growing season trends in east China, with emphasis on urbanization effects

    International Journal of Climatology

    Volume 33, Issue 10, August 2013, Pages: 2402–2412, Dr Xuchao Yang, Zhan Tian and Baode Chen

    Article first published online : 11 SEP 2012, DOI: 10.1002/joc.3590

  18. Case Studies

    Infrastructure Investing: Managing Risks & Rewards for Pensions, Insurance Companies & Endowments

    Rajeev J. Sawant, Pages: 211–231, 2011

    Published Online : 6 DEC 2011, DOI: 10.1002/9781118268124.ch9

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    The proper folding of a long C-terminal segment of the yeast Lys14p regulator is required for activation of LYS genes in response to the metabolic effector

    Molecular Microbiology

    Volume 43, Issue 6, March 2002, Pages: 1629–1639, Mohamed El Alami, André Feller, André Piérard and Evelyne Dubois

    Article first published online : 25 APR 2002, DOI: 10.1046/j.1365-2958.2002.02854.x

  20. Isolation and characterization of α-aminoadipate-δ-semialdehyde overproducing mutants from yeasts

    FEMS Microbiology Letters

    Volume 60, Issue 2, July 1989, Pages: 201–204, H. Schmidt, R. Bode, I.A. Samsonova and D. Birnbaum

    Article first published online : 27 MAR 2006, DOI: 10.1111/j.1574-6968.1989.tb03446.x