Works matching DE "LEUKODYSTROPHY"


Results: 499
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    Imaging Butyrylcholinesterase in Multiple Sclerosis.

    Published in:
    Molecular Imaging & Biology, 2021, v. 23, n. 1, p. 127, doi. 10.1007/s11307-020-01540-6
    By:
    • Thorne, M. W. D.;
    • Cash, M. K.;
    • Reid, G. A.;
    • Burley, D. E.;
    • Luke, D.;
    • Pottie, I. R.;
    • Darvesh, S.
    Publication type:
    Article
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    Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

    Published in:
    Medical Sciences, 2024, v. 12, n. 1, p. 7, doi. 10.3390/medsci12010007
    By:
    • Thakkar, Rajvi N.;
    • Patel, Drashti;
    • Kioutchoukova, Ivelina P.;
    • Al-Bahou, Raja;
    • Reddy, Pranith;
    • Foster, Devon T.;
    • Lucke-Wold, Brandon
    Publication type:
    Article
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    Subacute Sclerosing Panencephalitis.

    Published in:
    Journal of Bangladesh College of Physicians & Surgeons, 2019, v. 37, n. 4, p. 205, doi. 10.3329/jbcps.v37i4.43352
    By:
    • BANIK, G. C.;
    • AMAN, S.;
    • SULTANA, F.;
    • ARIF, S. M.
    Publication type:
    Article
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    Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

    Published in:
    Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y
    By:
    • Choquet, Karine;
    • Sharon Yang;
    • Moir, Robyn D.;
    • Forget, Diane;
    • Larivière, Roxanne;
    • Bouchard, Annie;
    • Poitras, Christian;
    • Sgarioto, Nicolas;
    • Dicaire, Marie-Josée;
    • Noohi, Forough;
    • Kennedy, Timothy E.;
    • Rochford, Joseph;
    • Bernard, Geneviève;
    • Teichmann, Martin;
    • Coulombe, Benoit;
    • Willis, Ian M.;
    • Kleinman, Claudia L.;
    • Brais, Bernard
    Publication type:
    Article
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    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. e660, doi. 10.1210/clinem/dgaa700
    By:
    • Pelletier, Félixe;
    • Perrier, Stefanie;
    • Cayami, Ferdy K.;
    • Mirchi, Amytice;
    • Saikali, Stephan;
    • Tran, Luan T.;
    • Ulrick, Nicole;
    • Guerrero, Kether;
    • Rampakakis, Emmanouil;
    • van Spaendonk, Rosalina M. L.;
    • Naidu, Sakkubai;
    • Pohl, Daniela;
    • Gibson, William T.;
    • Demos, Michelle;
    • Goizet, Cyril;
    • Tejera-Martin, Ingrid;
    • Potic, Ana;
    • Fogel, Brent L.;
    • Brais, Bernard;
    • Sylvain, Michel
    Publication type:
    Article
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    Magnetic resonance fingerprinting‐based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies.

    Published in:
    NMR in Biomedicine, 2024, v. 37, n. 6, p. 1, doi. 10.1002/nbm.5114
    By:
    • Lancione, Marta;
    • Cencini, Matteo;
    • Scaffei, Elena;
    • Cipriano, Emilio;
    • Buonincontri, Guido;
    • Schulte, Rolf F.;
    • Pirkl, Carolin M.;
    • Buchignani, Bianca;
    • Pasquariello, Rosa;
    • Canapicchi, Raffaello;
    • Battini, Roberta;
    • Biagi, Laura;
    • Tosetti, Michela
    Publication type:
    Article
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    Dystonia in RNA Polymerase III‐Related Leukodystrophy.

    Published in:
    Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715
    By:
    • Al Yazidi, Ghalia;
    • Tran, Luan T.;
    • Guerrero, Kether;
    • Vanderver, Adeline;
    • Schiffmann, Raphael;
    • Wolf, Nicole I.;
    • Chouinard, Sylvain;
    • Bernard, Geneviève
    Publication type:
    Article
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    Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1146, doi. 10.1002/acn3.51796
    By:
    • Al‐Saady, Murtadha;
    • Beerepoot, Shanice;
    • Plug, Bonnie C.;
    • Breur, Marjolein;
    • Galabova, Hristina;
    • Pouwels, Petra J. W.;
    • Boelens, Jaap‐Jan;
    • Lindemans, Caroline;
    • van Hasselt, Peter M.;
    • Matzner, Ulrich;
    • Vanderver, Adeline;
    • Bugiani, Marianna;
    • van der Knaap, Marjo S.;
    • Wolf, Nicole I.
    Publication type:
    Article