Works matching Leukodystrophy


Results: 2077
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    Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
    By:
    • Gutierrez, Mariana;
    • Thiffault, Isabelle;
    • Guerrero, Kether;
    • Martos-Moreno, Gabriel Á.;
    • Tran, Luan T.;
    • Benko, William;
    • van der Knaap, Marjo S.;
    • van Spaendonk, Rosalina M. L.;
    • Wolf, Nicole I.;
    • Bernard, Geneviève
    Publication type:
    Article
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    Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
    By:
    • Gutierrez, Mariana;
    • Thiffault, Isabelle;
    • Guerrero, Kether;
    • Martos-Moreno, Gabriel Á.;
    • Tran, Luan T.;
    • Benko, William;
    • van der Knaap, Marjo S.;
    • van Spaendonk, Rosalina M. L.;
    • Wolf, Nicole I.;
    • Bernard, Geneviève
    Publication type:
    Article
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    Leucodistrofia metacromatică forma juvenilă: cazul unor surori gemene.

    Published in:
    Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 67
    By:
    • Nussbaum, Laura;
    • Wagentrist, Peter;
    • Corcheş, Axinia;
    • Ageu, Luminiţa;
    • Hogea, Lavinia;
    • Micu-Şerbu, Bianca;
    • Morariu, Daiana;
    • Dragoş, Doina;
    • Nussbaum, Liliana;
    • Todica, Andrei
    Publication type:
    Article
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    Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3562, doi. 10.1093/brain/awae085
    By:
    • Bergner, Caroline G;
    • Breur, Marjolein;
    • Soto-Bernardini, M Clara;
    • Schäfer, Lisa;
    • Lier, Julia;
    • Duc, Diana Le;
    • Bundalian, Linnaeus;
    • Schubert, Susanna;
    • Brenner, David;
    • Kreuz, Friedmar R;
    • Schulte, Björn;
    • Waisfisz, Quinten;
    • Bugiani, Marianna;
    • Köhler, Wolfgang;
    • Sticht, Heinrich;
    • Jamra, Rami Abou;
    • Knaap, Marjo S van der
    Publication type:
    Article
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    Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249
    By:
    • Michell-Robinson, Mackenzie A;
    • Watt, Kristin E N;
    • Grouza, Vladimir;
    • Macintosh, Julia;
    • Pinard, Maxime;
    • Tuznik, Marius;
    • Chen, Xiaoru;
    • Darbelli, Lama;
    • Wu, Chia-Lun;
    • Perrier, Stefanie;
    • Chitsaz, Daryan;
    • Uccelli, Nonthué A;
    • Liu, Hanwen;
    • Cox, Timothy C;
    • Müller, Christoph W;
    • Kennedy, Timothy E;
    • Coulombe, Benoit;
    • Rudko, David A;
    • Trainor, Paul A;
    • Bernard, Geneviève
    Publication type:
    Article
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    Pathology of the neurovascular unit in leukodystrophies.

    Published in:
    Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01206-6
    By:
    • Zarekiani, Parand;
    • Breur, Marjolein;
    • Wolf, Nicole I.;
    • de Vries, Helga E.;
    • van der Knaap, Marjo S.;
    • Bugiani, Marianna
    Publication type:
    Article
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    Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

    Published in:
    Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5114, doi. 10.3390/jcm13175114
    By:
    • Bettinger, Charlotte Maria;
    • Dulz, Simon;
    • Atiskova, Yevgeniya;
    • Guerreiro, Helena;
    • Schön, Gerhard;
    • Guder, Philipp;
    • Maier, Sarah Lena;
    • Denecke, Jonas;
    • Bley, Annette E.
    Publication type:
    Article
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    Update on leukodystrophies and developing trials.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 1, p. 593, doi. 10.1007/s00415-023-11996-5
    By:
    • Ceravolo, Giorgia;
    • Zhelcheska, Kristina;
    • Squadrito, Violetta;
    • Pellerin, David;
    • Gitto, Eloisa;
    • Hartley, Louise;
    • Houlden, Henry
    Publication type:
    Article
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    Epilepsy in children with leukodystrophies.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 9, p. 2612, doi. 10.1007/s00415-020-09889-y
    By:
    • Zhang, Jie;
    • Ban, Tingting;
    • Zhou, Ling;
    • Ji, Haoran;
    • Yan, Huifang;
    • Shi, Zhen;
    • Cao, Binbin;
    • Jiang, Yuwu;
    • Wang, Jingmin;
    • Wu, Ye
    Publication type:
    Article
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    A novel autosomal dominant leukodystrophy with specific MRI pattern.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 4, p. 988, doi. 10.1007/s00415-015-7660-4
    By:
    • Corlobé, A.;
    • Taithe, F.;
    • Clavelou, P.;
    • Pierre, E.;
    • Carra-Dallière, C.;
    • Ayrignac, X.;
    • Mouzat, K.;
    • Lumbroso, S.;
    • Menjot de Champfleur, N.;
    • Koenig, M.;
    • Boespflug-Tanguy, O.;
    • Labauge, P.
    Publication type:
    Article
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    Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

    Published in:
    Journal of Neurology, 2013, v. 260, n. 6, p. 1617, doi. 10.1007/s00415-013-6844-z
    By:
    • Salsano, Ettore;
    • Farina, Laura;
    • Lamperti, Costanza;
    • Piscosquito, Giuseppe;
    • Salerno, Franco;
    • Morandi, Lucia;
    • Carrara, Franco;
    • Lamantea, Eleonora;
    • Zeviani, Massimo;
    • Uziel, Graziella;
    • Savoiardo, Mario;
    • Pareyson, Davide
    Publication type:
    Article
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    Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

    Published in:
    Journal of Child Neurology, 2023, v. 38, n. 8/9, p. 498, doi. 10.1177/08830738231188159
    By:
    • Gavazzi, Francesco;
    • Patel, Virali;
    • Charsar, Brittany;
    • Glanzman, Allan;
    • Erler, Jacqueline;
    • Sevagamoorthy, Anjana;
    • McKenzie, Emma;
    • Kornafel, Tracy;
    • Ballance, Elizabeth;
    • Pierce, Samuel R.;
    • Teng, Michelle;
    • Formanowski, Brielle;
    • Woidill, Sarah;
    • Shults, Justine;
    • Wassmer, Evangeline;
    • Tonduti, Davide;
    • Magrinelli, Francesca;
    • Bernard, Geneviève;
    • Van Der Knaap, Marjo;
    • Wolf, Nicole
    Publication type:
    Article
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    Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

    Published in:
    Journal of Child Neurology, 2021, v. 36, n. 1, p. 65, doi. 10.1177/0883073820946154
    By:
    • Keller, Stephanie R.;
    • Mallack, Eric J.;
    • Rubin, Jennifer P.;
    • Accardo, Jennifer A.;
    • Brault, Jennifer A.;
    • Corre, Camille S.;
    • Elizondo, Camila;
    • Garafola, Jennifer;
    • Jackson-Garcia, April C.;
    • Rhee, Jullie;
    • Seeger, Elisa;
    • Shullanberger, Kaprice C.;
    • Tourjee, Amanda;
    • Trovato, Melissa K.;
    • Waldman, Amy T.;
    • Wallace, Jenna L.;
    • Wallace, Michael R.;
    • Werner, Klaus;
    • White, Angela;
    • Ess, Kevin C.
    Publication type:
    Article