Works matching Leukodystrophy and genetics

Results: 151
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    Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 7, p. 875, doi. 10.1001/jamaneurol.2013.698
    By:
    • Guerreiro, Rita;
    • Kara, Eleanna;
    • Le Ber, Isabelle;
    • Bras, Jose;
    • Rohrer, Jonathan D.;
    • Taipa, Ricardo;
    • Lashley, Tammaryn;
    • Dupuits, Céline;
    • Gurunlian, Nicole;
    • Mochel, Fanny;
    • Warren, Jason D.;
    • Hannequin, Didier;
    • Sedel, Frédéric;
    • Depienne, Christel;
    • Camuzat, Agnès;
    • Golfier, Véronique;
    • Du Boisguéheneuc, Foucaud;
    • Schottlaender, Lucia;
    • Fox, Nick C.;
    • Beck, Jonathan
    Publication type:
    Article
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    Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

    Published in:
    2023
    By:
    • Ashrafi, Mahmoudreza;
    • Kameli, Reyhaneh;
    • Hosseinpour, Sareh;
    • Razmara, Ehsan;
    • Zamani, Zahra;
    • Rezaei, Zahra;
    • Mashayekhi, Raziyeh;
    • Pak, Neda;
    • Barzegar, Mohammad;
    • Azizimalamiri, Reza;
    • Kashani, Morteza Rezvani;
    • Khosroshahi, Nahideh;
    • Rasulinezhad, Maryam;
    • Heidari, Morteza;
    • Amanat, Man;
    • Abdi, Alireza;
    • Mohammadi, Bahram;
    • Mohammadi, Mahmoud;
    • Zamani, Gholam Reza;
    • Badv, Reza Shervin
    Publication type:
    Correction Notice
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    High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

    Published in:
    Neurogenetics, 2023, v. 24, n. 4, p. 279, doi. 10.1007/s10048-023-00730-y
    By:
    • Ashrafi, Mahmoudreza;
    • Kameli, Reyhaneh;
    • Hosseinpour, Sareh;
    • Razmara, Ehsan;
    • Zamani, Zahra;
    • Rezaei, Zahra;
    • Mashayekhi, Raziyeh;
    • Pak, Neda;
    • Barzegar, Mohammad;
    • Azizimalamiri, Reza;
    • Kashani, Morteza Rezvani;
    • Khosroshahi, Nahideh;
    • Rasulinezhad, Maryam;
    • Heidari, Morteza;
    • Amanat, Man;
    • Abdi, Alireza;
    • Mohammadi, Bahram;
    • Mohammadi, Mahmoud;
    • Zamani, Gholam Reza;
    • Badv, Reza Shervin
    Publication type:
    Article
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    Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 3, p. 934, doi. 10.1111/ene.14646
    By:
    • Di Bella, Daniela;
    • Magri, Stefania;
    • Benzoni, Chiara;
    • Farina, Laura;
    • Maccagnano, Carmelo;
    • Sarto, Elisa;
    • Moscatelli, Marco;
    • Baratta, Silvia;
    • Ciano, Claudia;
    • Piacentini, Sylvie H. M. J.;
    • Draghi, Lara;
    • Mauro, Elena;
    • Pareyson, Davide;
    • Gellera, Cinzia;
    • Taroni, Franco;
    • Salsano, Ettore
    Publication type:
    Article
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    Genetic characterization of a Turkish dementia cohort: a focus on leukodystrophy genes.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.067940
    By:
    • Dehghani, Nadia;
    • Guven, Gamze;
    • Westra, Kaitlyn;
    • Gardner, Eve;
    • Paquette, Kimberly;
    • Gibbons, Elizabeth;
    • Hanagasi, Hasmet;
    • Lohmann, Ebba;
    • Samancı, Bedia;
    • Gurvit, Hakan;
    • Bilgiç, Başar;
    • Bras, Jose;
    • Guerreiro, Rita
    Publication type:
    Article
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    Entmarkungserkrankungen.

    Published in:
    Der Nervenarzt, 2010, v. 81, n. 4, p. 471, doi. 10.1007/s00115-010-2948-1
    By:
    • Weber, T.;
    • Köhler, W.
    Publication type:
    Article
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    RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
    By:
    • Mendes, Marisa I.;
    • Green, Lydia M. C.;
    • Bertini, Enrico;
    • Tonduti, Davide;
    • Aiello, Chiara;
    • Smith, Desiree;
    • Salsano, Ettore;
    • Beerepoot, Shanice;
    • Hertecant, Jozef;
    • Spiczak, Sarah;
    • Livingston, John H.;
    • Emrick, Lisa;
    • Fraser, Jamie;
    • Russell, Laura;
    • Bernard, Genevieve;
    • Magri, Stefania;
    • Di Bella, Daniela;
    • Taroni, Franco;
    • Koenig, Mary K.;
    • Moroni, Isabella
    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
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