Search Results - Manberg, Stephanie

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  1. 1
    P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome

    P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome by Wen, Ting, Reynolds, Hayley, Farrell, Andrew, Moore, Barry, Boyden, Steven, Nicholas, Thomas, Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua, Shayota, Brian, Malone-Jenkins, Sabrina, Bayrak-Toydemir, Pinar, Mao, Rong

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  2. 2
    GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

    GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment by Markovitz, Rebecca, Ghosh, Rajarshi, Kuo, Molly E., Hong, William, Lim, Jaehyung, Bernes, Saunder, Manberg, Stephanie, Crosby, Kathleen, Tanpaiboon, Pranoot, Bharucha‐Goebel, Diana, Bonnemann, Carsten, Mohila, Carrie A., Mizerik, Elizabeth, Woodbury, Suzanne, Bi, Weimin, Lotze, Timothy, Antonellis, Anthony, Xiao, Rui, Potocki, Lorraine

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  3. 3
    Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

    Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome by Reynolds, Hayley M, Wen, Ting, Farrell, Andrew, Mao, Rong, Moore, Barry, Boyden, Steven E, Bayrak-Toydemir, Pinar, Nicholas, Thomas J, Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua L, Shayota, Brian J, Jenkins, Sabrina Malone

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  4. 4
    Multi‐cohort profiling reveals elevated CSF levels of brain‐enriched proteins in Alzheimer’s disease

    Multi‐cohort profiling reveals elevated CSF levels of brain‐enriched proteins in Alzheimer’s disease by Bergström, Sofia, Remnestål, Julia, Yousef, Jamil, Olofsson, Jennie, Markaki, Ioanna, Carvalho, Stephanie, Corvol, Jean‐Christophe, Kultima, Kim, Kilander, Lena, Löwenmark, Malin, Ingelsson, Martin, Blennow, Kaj, Zetterberg, Henrik, Nellgård, Bengt, Brosseron, Frederic, Heneka, Michael T., Bosch, Beatriz, Sanchez‐Valle, Raquel, Månberg, Anna, Svenningsson, Per, Nilsson, Peter

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  5. 5
    Cerebrospinal Fluid Levels of Kininogen‐1 Indicate Early Cognitive Impairment in Parkinson's Disease

    Cerebrospinal Fluid Levels of Kininogen‐1 Indicate Early Cognitive Impairment in Parkinson's Disease by Markaki, Ioanna, Bergström, Sofia, Tsitsi, Panagiota, Remnestål, Julia, Månberg, Anna, Hertz, Ellen, Paslawski, Wojciech, Sorjonen, Kimmo, Uhlén, Mathias, Mangone, Graziella, Carvalho, Stephanie, Rascol, Olivier, Meissner, Wassilios G., Magnin, Eloi, Wüllner, Ullrich, Corvol, Jean‐Christophe, Nilsson, Peter, Svenningsson, Per

    Published in Movement disorders
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