نتائج البحث - Alexander Paciorkowski

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  1. 1
    NMO-IgG DETECTED IN CSF IN SERONEGATIVE NEUROMYELITIS OPTICA

    NMO-IgG DETECTED IN CSF IN SERONEGATIVE NEUROMYELITIS OPTICA حسب Eric C. Klawiter, Enríque Alvarez, Junqian Xu, Alexander Paciorkowski, Luwen Zhu, Becky Parks, Anne H. Cross, Robert T. Naismith

    منشور في 2009
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    Artigo
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  2. 2
    Phenotypic characteristics of early Wolfram syndrome

    Phenotypic characteristics of early Wolfram syndrome حسب Bess A. Marshall, M. Alan Permutt, Alexander Paciorkowski, James Hoekel, Roanne K. Karzon, Jon Wasson, Amy Viehover, Neil H. White, Joshua S. Shimony, Linda Manwaring, Paul F. Austin, Timothy E. Hullar, Tamara Hershey

    منشور في 2013
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    Artigo
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  3. 3
    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria حسب Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L. Christian, Jean‐Baptiste Rivière, Christopher T. Sullivan, Jyotsna Sudi, Michael J. Herriges, Alexander Paciorkowski, A. James Barkovich, Joseph Glessner, Kathleen J. Millen, Hákon Hákonarson, William B. Dobyns, Elliott H. Sherr

    منشور في 2013
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    Artigo
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  4. 4
    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) حسب Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahić, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick

    منشور في 2019
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    Artigo
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  5. 5
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations حسب Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    منشور في 2016
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    Artigo
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  6. 6
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations حسب Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    منشور في 2018
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    Artigo
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