Resultats de la cerca - Marianna Bugiani

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  1. 1
    Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

    Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency per Marianna Bugiani

    Publicat 2005
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  2. 2
    Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

    Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms per Marjo S. van der Knaap, Marianna Bugiani

    Publicat 2017
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  3. 3
    Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

    Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal per Rana Yadak, Marjolein Breur, Marianna Bugiani

    Publicat 2019
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  4. 4
    The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

    The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology per Hemmo A. F. Yska, Marc Engelen, Marianna Bugiani

    Publicat 2024
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  5. 5
    Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

    Vanishing white matter: a leukodystrophy due to astrocytic dysfunction per Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S. van der Knaap

    Publicat 2018
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  6. 6
    Leukoencephalopathy With Vanishing White Matter: A Review

    Leukoencephalopathy With Vanishing White Matter: A Review per Marianna Bugiani, Ilja Boor, James M. Powers, Gert C. Scheper, Marjo S. van der Knaap

    Publicat 2010
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  7. 7
    Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

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

    Publicat 2019
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  8. 8
    Evo-Devo of the Human Vertebral Column: On Homeotic Transformations, Pathologies and Prenatal Selection

    Evo-Devo of the Human Vertebral Column: On Homeotic Transformations, Pathologies and Prenatal Selection per Clara M. A. ten Broek, Alexander J. Bakker, Irma Varela‐Lasheras, Marianna Bugiani, Stefan Van Dongen, Frietson Galis

    Publicat 2012
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  9. 9
    Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment

    Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment per Stephanie Dooves, Marianna Bugiani, Lisanne E. Wisse, Truus E. M. Abbink, Marjo S. van der Knaap, Vivi M. Heine

    Publicat 2017
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  10. 10
    Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease

    Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease per Marianna Bugiani, Nienke L. Postma, Emiel Polder, Nikki Dieleman, P Scheffer, Fraser J. Sim, Marjo S. van der Knaap, Ilja Boor

    Publicat 2013
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  11. 11
    Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

    Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy per Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, Franco Carrara, Laura Farina, Elena Procopio, Alice Donati, Graziella Uziel, Iliana Ferrero, Massimo Zeviani

    Publicat 2007
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  12. 12
    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 per 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

    Publicat 2017
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  13. 13
    Retinoic Acid Induces Blood–Brain Barrier Development

    Retinoic Acid Induces Blood–Brain Barrier Development per Mark R. Mizee, Desiree Wooldrik, Kim Lakeman, Bert van het Hof, Joost Drexhage, Dirk Geerts, Marianna Bugiani, Eleonora Aronica, Reina E. Mebius, Alexandre Prat, Helga E. de Vries, Arie Reijerkerk

    Publicat 2013
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  14. 14
    Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature

    Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature per Sara J. E. Verdonk, Silvia Storoni, Dimitra Micha, Joost G. van den Aardweg, Paolo Versacci, Luca Celli, Ralph de Vries, Lidiia Zhytnik, Otto Kamp, Marianna Bugiani, Elisabeth M. W. Eekhoff

    Publicat 2024
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  15. 15
    Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

    Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy per E. Malfatti, Marianna Bugiani, Federica Invernizzi, Carolina Fischinger Moura de Souza, Laura Farina, F. Carrara, Eleonora Lamantea, Carlo Antozzi, Paolo Confalonieri, Maria Teresa Vieira Sanseverino, Roberto Giugliani, Graziella Uziel, Massimo Zeviani

    Publicat 2007
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  16. 16
    Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

    Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts per Mohit Dubey, Eelke Brouwers, Eline M. Hamilton, Oliver Stiedl, Marianna Bugiani, Henner Koch, Maarten H. P. Kole, Ursula Boschert, Robert C. Wykes, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min

    Publicat 2018
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  17. 17
    Subventricular spread of diffuse intrinsic pontine glioma

    Subventricular spread of diffuse intrinsic pontine glioma per Viola Caretti, Marianna Bugiani, Morgan E. Freret, Pepijn Schellen, Marc H.A. Jansen, Dannis G. van Vuurden, Gertjan J.L. Kaspers, Paul G. Fisher, Esther Hulleman, Pieter Wesseling, Hannes Vogel, Michelle Monje

    Publicat 2014
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  18. 18
    Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer’s disease

    Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer’s disease per David Hondius, Kristel N. Eigenhuis, Tjado H. J. Morrema, Roel C. van der Schors, Pim van Nierop, Marianna Bugiani, Ka Wan Li, Jeroen J.M. Hoozemans, August B. Smit, Annemieke J.M. Rozemüller

    Publicat 2018
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  19. 19
    Defective Glial Maturation in Vanishing White Matter Disease

    Defective Glial Maturation in Vanishing White Matter Disease per Marianna Bugiani, Ilja Boor, Barbara van Kollenburg, Nienke L. Postma, Emiel Polder, Carola van Berkel, Ronald E. van Kesteren, Martha S. Windrem, Elly M. Hol, Gert C. Scheper, Steven A. Goldman, Marjo S. van der Knaap

    Publicat 2010
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  20. 20
    Megalencephalic leukoencephalopathy with cysts: the<i>Glialcam</i>‐null mouse model

    Megalencephalic leukoencephalopathy with cysts: the<i>Glialcam</i>‐null mouse model per Marianna Bugiani, Mohit Dubey, Marjolein Breur, Nienke L. Postma, Marien P. Dekker, Timo ter Braak, Ursula Boschert, Truus E. M. Abbink, Huibert D. Mansvelder, Rogier Min, Jan R.T. van Weering, Marjo S. van der Knaap

    Publicat 2017
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