Search Results - Nicole I. Wolf

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  1. 1
    Treatment of leukodystrophies: Advances and challenges

    Treatment of leukodystrophies: Advances and challenges by Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen

    Published 2025
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  2. 2
    Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

    Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective by Shanice Beerepoot, Stefan Nierkens, Jaap Jan Boelens, Caroline A. Lindemans, Marianna Bugiani, Nicole I. Wolf

    Published 2019
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  3. 3
    Status epilepticus in children with Alpers’ disease caused by <i>POLG1</i> mutations: EEG and MRI features

    Status epilepticus in children with Alpers’ disease caused by <i>POLG1</i> mutations: EEG and MRI features by Nicole I. Wolf, Shamima Rahman, Bernhard Schmitt, Jan‐Willem Taanman, Andrew Duncan, Inga Harting, Gabriele Wohlrab, Friedrich Ebinger, D. Rating, Thomas Bast

    Published 2008
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  4. 4
    Imaging Patterns Characterizing Mitochondrial Leukodystrophies

    Imaging Patterns Characterizing Mitochondrial Leukodystrophies by Stefan D. Roosendaal, Tim van de Brug, César Augusto Pinheiro Ferreira Alves, Susan Blasér, Adeline Vanderver, Nicole I. Wolf, Marjo S. van der Knaap

    Published 2021
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  5. 5
    The in-depth evaluation of suspected mitochondrial disease

    The in-depth evaluation of suspected mitochondrial disease by Richard Haas, Sumit Parikh, Marni J. Falk, Russell P. Saneto, Nicole I. Wolf, Niklas Darín, Lee-Jun Wong, Bruce H. Cohen, Robert K. Naviaux

    Published 2008
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  6. 6
    Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain

    Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain by Stefan Kölker, Marina A. Schwab, Friederike Hörster, Sven W. Sauer, Angela Hinz, Nicole I. Wolf, Ertan Mayatepek, Georg F. Hoffmann, Jan Smeitink, Jürgen G. Okun

    Published 2003
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  7. 7
    A mutation in the <i>Tubb4a</i> gene leads to microtubule accumulation with hypomyelination and demyelination

    A mutation in the <i>Tubb4a</i> gene leads to microtubule accumulation with hypomyelination and demyelination by Ian D. Duncan, Marianna Bugiani, Abigail B. Radcliff, John J. Moran, Camila Lopez‐Anido, Phu Duong, Benjamin K. August, Nicole I. Wolf, Marjo S. van der Knaap, John Svaren

    Published 2017
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  8. 8
    Degeneration alters the biomechanical properties and structural composition of lateral human menisci

    Degeneration alters the biomechanical properties and structural composition of lateral human menisci by Daniela Warnecke, Julie A. Balko, Julian Haas, Ralf Bieger, F. Leucht, Nicole I. Wolf, Natalie Schild, Svenja Stein, Andreas Seitz, Anita Ignatius, Heiko Reichel, Boris Mizaikoff, Lutz Dürselen

    Published 2020
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  9. 9
    Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Magnetic resonance imaging pattern recognition in hypomyelinating disorders by Marjan E. Steenweg, Adeline Vanderver, Susan Blasér, Alberto Bizzi, Tom J. de Koning, Grazia M.S. Mancini, Wessel N. van Wieringen, Frederik Barkhof, Nicole I. Wolf, Marjo S. van der Knaap

    Published 2010
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  10. 10
    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder by Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard J. Leventer, Amy Pizzino, Cas Simons, Truus E. M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, Adeline Vanderver

    Published 2014
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  11. 11
    Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

    Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy by Georg F. Hoffmann, Bernhard Schmitt, Marisa Windfuhr, Nicola Wagner, H. Strehl, Soyhan Bağcı, Axel R. Franz, Philippa B. Mills, Peter T. Clayton, Matthias R. Baumgartner, B Steinmann, Thomas Bast, Nicole I. Wolf, Johannes Zschocke

    Published 2006
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  12. 12
    Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene

    Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene by Barbara Plecko, Karl Paul, Philippa B. Mills, Peter T. Clayton, Eduard Paschke, Oliver Maier, Oswald Hasselmann, G. Schmiedel, Simone Kanz, Mary Connolly, Nicole I. Wolf, Eduard A. Struys, Sylvia Stöckler, Lucia Abela, Doris Hofer

    Published 2014
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  13. 13
    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy by Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del‐Favero, Sirpa Ala‐Mello, Lina Basel‐Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe

    Published 2003
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  14. 14
    Hypomyelinating leukodystrophies: Translational research progress and prospects

    Hypomyelinating leukodystrophies: Translational research progress and prospects by Petra J. W. Pouwels, Adeline Vanderver, Geneviève Bernard, Nicole I. Wolf, Steffi F. Dreha‐Kulczewksi, Sean Deoni, Enrico Bertini, Alfried Kohlschütter, William D. Richardson, Charles ffrench‐Constant, Wolfgang Köhler, David H. Rowitch, A. James Barkovich

    Published 2014
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  15. 15
    Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

    Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience by Diane F. van Rappard, Jaap Jan Boelens, Martje E. van Egmond, Jürgen Kuball, Peter M. van Hasselt, Kim J. Oostrom, Petra J. W. Pouwels, Marjo S. van der Knaap, Carla E. M. Hollak, Nicole I. Wolf

    Published 2016
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  16. 16
    Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries

    Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries by Daphne H. Schoenmakers, Fanny Mochel, Laura Adang, Jaap Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline A. Lindemans, Caroline Sevin, Lüdger Schöls, Dipak Ram, Ayelet Zerem, Holm Graeßner, Nicole I. Wolf

    Published 2024
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  17. 17
    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes by Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I. Wolf, Bruce Nmezi, Raphael Schiffmann, Mona Bugaighis, Tyler Mark Pierson, Guy Helman, Cas Simons, Marjo S. van der Knaap, Judy Liu, Quasar Saleem Padiath, Adeline Vanderver

    Published 2017
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  18. 18
    <i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern

    <i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern by Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo Nijtmans, Anne Mitchell, H Arroyo, D. Rating, Adeline Vanderver, Carola G.M. van Berkel, Truus E. M. Abbink, Peter Heutink, Marjo S. van der Knaap

    Published 2013
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  19. 19
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy by Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap

    Published 2013
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  20. 20
    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation by Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Raguž, Luba Blumkin, Carola G.M. van Berkel, Quinten Waisfisz, Cas Simons, Ryan J. Taft, Truus E. M. Abbink, Nicole I. Wolf, Marjo S. van der Knaap

    Published 2014
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