Bilaketaren emaitzak - Vanderver, Adeline

Genetic Leukoencephalopathies in Adults nork Vanderver, Adeline

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Astrocytes, an active player in Aicardi–Goutières syndrome nork Sase, Sunetra, Takanohashi, Asako, Vanderver, Adeline, Almad, Akshata

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Isolated cranial nerve enhancement in Metachromatic Leukodystrophy nork Singh, Rani K., Leshner, Robert T., Kadom, Nadja, Vanderver, Adeline L.

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Emerging Treatments for Pediatric Leukodystrophies nork Helman, Guy, Van Haren, Keith, Escolar, Maria L., Vanderver, Adeline

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Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid nork Brown, Kristy J., Vanderver, Adeline, Hoffman, Eric P., Schiffmann, Raphael, Hathout, Yetrib

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Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders nork Vanderver, Adeline, Hussey, Heather, Schmidt, Johanna L., Pastor, William, Hoffman, Heather J.

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A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived Cells nork Kantor, Liraz, Pinchasi, Dalia, Mintz, Michelle, Hathout, Yetrib, Vanderver, Adeline, Elroy-Stein, Orna

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Focal Central White Matter Lesions in Alexander Disease nork Barreau, Pauline, Prust, Morgan J., Crane, Jeremy, Loewenstein, Johanna, Kadom, Nadja, Vanderver, Adeline

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Targeted Leukodystrophy Diagnosis Based on Charges and Yields for Testing nork Richards, Jackson, Korgenski, E. Kent, Taft, Ryan J., Vanderver, Adeline, Bonkowsky, Joshua L.

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3358 Developmental Outcomes of Aicardi Goutieres Syndrome nork Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline

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Neuropathological Findings in a Case of IFIH1-Related Aicardi–Goutières Syndrome nork Gilani, Ahmed, Adang, Laura A, Vanderver, Adeline, Collins, Abigail, Kleinschmidt-DeMasters, BK

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Time Series Proteome Profiling nork Formolo, Catherine A., Mintz, Michelle, Takanohashi, Asako, Brown, Kristy J., Vanderver, Adeline, Halligan, Brian, Hathout, Yetrib

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Acquisition of Developmental Milestones in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy nork Gavazzi, Francesco, Charsar, Brittany A., Williams, Catherine, Shults, Justine, Alves, Cesar A., Adang, Laura, Vanderver, Adeline

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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications and neurodegeneration nork Macintosh, Julia, Derksen, Alexa, Poulin, Chantal, Braverman, Nancy, Vanderver, Adeline, Thiffault, Isabelle, Albrecht, Steffen, Bernard, Geneviève

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Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome nork Schmidt, Johanna L., Olivieri, Ivana, Vento, Jodie M., Fazzi, Elisa, Gordish-Dressman, Heather, Orcesi, Simona, Vanderver, Adeline

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Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation nork La Piana, Roberta, Vanderver, Adeline, van der Knaap, Marjo, Roux, Louise, Tampieri, Donatella, Brais, Bernard, Bernard, Geneviève

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Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo nork McNeill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, Ghezzi, Daniele

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More Than Hypomyelination in Pol-III Disorder nork Vanderver, Adeline, Tonduti, Davide, Bernard, Genevieve, Lai, Jinping, Rossi, Christopher, Carosso, Giovanni, Quezado, Martha, Wong, Kondi, Schiffmann, Raphael

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Dystonia in RNA Polymerase III‐Related Leukodystrophy nork Al Yazidi, Ghalia, Tran, Luan T., Guerrero, Kether, Vanderver, Adeline, Schiffmann, Raphael, Wolf, Nicole I., Chouinard, Sylvain, Bernard, Geneviève

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MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency nork Mew, Nicholas Ah, Loewenstein, Johanna B., Kadom, Nadja, Lichter-Konecki, Uta, Gropman, Andrea L., Martin, Jodie M., Vanderver, Adeline

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