检索结果 - Marianna Bugiani

Refine Results
  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 由 Marianna Bugiani

    出版 2005
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 Marjo S. van der Knaap, Marianna Bugiani

    出版 2017
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  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 由 Rana Yadak, Marjolein Breur, Marianna Bugiani

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  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 由 Hemmo A. F. Yska, Marc Engelen, Marianna Bugiani

    出版 2024
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Vanishing white matter: a leukodystrophy due to astrocytic dysfunction

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

    出版 2018
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  6. 6
    Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone

    Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone 由 Katrina L. Adams, Giulia Riparini, Payal Banerjee, Marjolein Breur, Marianna Bugiani, Vittorio Gallo

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Leukoencephalopathy With Vanishing White Matter: A Review

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

    出版 2010
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  8. 8
    Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

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

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  9. 9
    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 由 Clara M. A. ten Broek, Alexander J. Bakker, Irma Varela‐Lasheras, Marianna Bugiani, Stefan Van Dongen, Frietson Galis

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    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 由 Stephanie Dooves, Marianna Bugiani, Lisanne E. Wisse, Truus E. M. Abbink, Marjo S. van der Knaap, Vivi M. Heine

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease

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

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    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 由 Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, Franco Carrara, Laura Farina, Elena Procopio, Alice Donati, Graziella Uziel, Iliana Ferrero, Massimo Zeviani

    出版 2007
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    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 由 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

    出版 2017
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Retinoic Acid Induces Blood–Brain Barrier Development

    Retinoic Acid Induces Blood–Brain Barrier Development 由 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

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    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 由 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

    出版 2024
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  16. 16
    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 由 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

    出版 2007
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  17. 17
    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 由 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

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  18. 18
    Subventricular spread of diffuse intrinsic pontine glioma

    Subventricular spread of diffuse intrinsic pontine glioma 由 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

    出版 2014
    获取全文
    Carta
    加到收藏夹
    Saved in:
  19. 19
    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 由 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

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  20. 20
    Defective Glial Maturation in Vanishing White Matter Disease

    Defective Glial Maturation in Vanishing White Matter Disease 由 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

    出版 2010
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: