Works matching DE "LEUKODYSTROPHY"

Results: 497
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11

    Nasu-Hakola Disease.

    Published in:
    2018
    By:
    • Samanci, Bedia;
    • Ulukan, Çağrı;
    • Gündüz, Tuncay;
    • Kürtüncü, Murat;
    • Eraksoy, Mefkure;
    • Ulukan, Çağri
    Publication type:
    journal article
    12

    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
    13

    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 5, p. 750, doi. 10.3390/jcm8050750
    By:
    • Garau, Jessica;
    • Cavallera, Vanessa;
    • Valente, Marialuisa;
    • Tonduti, Davide;
    • Sproviero, Daisy;
    • Zucca, Susanna;
    • Battaglia, Domenica;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Cappanera, Silvia;
    • Chiapparini, Luisa;
    • Crasà, Camilla;
    • Crichiutti, Giovanni;
    • Giustina, Elvio Dalla;
    • D'Arrigo, Stefano;
    • Giorgis, Valentina De;
    • Simone, Micaela De;
    • Galli, Jessica;
    • Piana, Roberta La;
    • Messana, Tullio
    Publication type:
    Article
    14
    15
    16
    17
    18
    19
    20

    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
    21
    22

    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
    By:
    • Dafsari, Hormos Salimi;
    • Pemberton, Joshua G.;
    • Ferrer, Elizabeth A.;
    • Yammine, Tony;
    • Farra, Chantal;
    • Mohammadi, Mohammad Hasan;
    • Karimiani, Ehsan Ghayoor;
    • Hashemi, Narges;
    • Souaid, Mirna;
    • Sabbagh, Sandra;
    • Torbati, Paria Najarzadeh;
    • Khan, Suliman;
    • Roze, Emmanuel;
    • Moreno-De-Luca, Andres;
    • Bertoli-Avella, Aida M.;
    • Houlden, Henry;
    • Balla, Tamas;
    • Maroofian, Reza
    Publication type:
    Article
    23
    24

    Amyloid‐β PET and CSF in an autopsy‐confirmed cohort.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2150, doi. 10.1002/acn3.51195
    By:
    • Reimand, Juhan;
    • Boon, Baayla D. C.;
    • Collij, Lyduine E.;
    • Teunissen, Charlotte E.;
    • Rozemuller, Annemieke J. M.;
    • Berckel, Bart N. M.;
    • Scheltens, Philip;
    • Ossenkoppele, Rik;
    • Bouwman, Femke
    Publication type:
    Article
    25

    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
    By:
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Isikay, Sedat;
    • Hertecant, Jozef;
    • Almannai, Mohammed;
    • Manickam, Kandamurugu;
    • Abou Jamra, Rami;
    • El‐Hattab, Ayman W.;
    • Rajah, Jaishen;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Punetha, Jaya;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Boerwinkle, Eric;
    • Akdemir, Zeynep C.;
    • Erdin, Serkan;
    • Hunter, Jill V.
    Publication type:
    Article
    26

    Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 69, doi. 10.1002/acn3.50965
    By:
    • Wang, Hongge;
    • Davison, Matthew;
    • Wang, Kathryn;
    • Xia, Tai‐He;
    • Kramer, Martin;
    • Call, Katherine;
    • Luo, Jun;
    • Wu, Xingyao;
    • Zuccarino, Riccardo;
    • Bacon, Chelsea;
    • Bai, Yunhong;
    • Moran, John J.;
    • Gutmann, Laurie;
    • Feely, Shawna M. E.;
    • Grider, Tiffany;
    • Rossor, Alexander M.;
    • Reilly, Mary M.;
    • Svaren, John;
    • Shy, Michael E.
    Publication type:
    Article
    27

    Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 169, doi. 10.1002/acn3.50975
    By:
    • Wolf, Nicole I.;
    • Breur, Marjolein;
    • Plug, Bonnie;
    • Beerepoot, Shanice;
    • Westerveld, Aimee S. R.;
    • van Rappard, Diane F.;
    • de Vries, Sharon I.;
    • Kole, Maarten H. P.;
    • Vanderver, Adeline;
    • van der Knaap, Marjo S.;
    • Lindemans, Caroline A.;
    • van Hasselt, Peter M.;
    • Boelens, Jaap J.;
    • Matzner, Ulrich;
    • Gieselmann, Volkmar;
    • Bugiani, Marianna
    Publication type:
    Article
    28

    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
    29

    Vanishing white matter: deregulated integrated stress response as therapy target.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1407, doi. 10.1002/acn3.50826
    By:
    • Abbink, Truus E. M.;
    • Wisse, Lisanne E.;
    • Jaku, Ermelinda;
    • Thiecke, Michiel J.;
    • Voltolini‐González, Daniel;
    • Fritsen, Hein;
    • Bobeldijk, Sander;
    • Braak, Timo J.;
    • Polder, Emiel;
    • Postma, Nienke L.;
    • Bugiani, Marianna;
    • Struijs, Eduard A.;
    • Verheijen, Mark;
    • Straat, Nina;
    • Sluis, Sophie;
    • Thomas, Adri A. M.;
    • Molenaar, Douwe;
    • Knaap, Marjo S.
    Publication type:
    Article
    30

    7 Tesla MRI of Balo's concentric sclerosis versus multiple sclerosis lesions.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 8, p. 900, doi. 10.1002/acn3.572
    By:
    • Behrens, Janina R.;
    • Wanner, Julia;
    • Kuchling, Joseph;
    • Ostendorf, Lennard;
    • Harms, Lutz;
    • Ruprecht, Klemens;
    • Niendorf, Thoralf;
    • Jarius, Sven;
    • Wildemann, Brigitte;
    • Gieß, René M.;
    • Scheel, Michael;
    • Bellmann‐Strobl, Judith;
    • Wuerfel, Jens;
    • Paul, Friedemann;
    • Sinnecker, Tim
    Publication type:
    Article
    31
    32

    Preventable infections in children with leukodystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2014, v. 1, n. 5, p. 370, doi. 10.1002/acn3.61
    By:
    • Anderson, Holly M.;
    • Wilkes, Jacob;
    • Korgenski, Ernest Kent;
    • Pulsipher, Michael A.;
    • Blaschke, Anne J.;
    • Hersh, Adam L.;
    • Srivastava, Rajendu;
    • Bonkowsky, Joshua L.
    Publication type:
    Article
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50