Search Results - "Marianna Bugiani"

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

“…Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at…”
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Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone by Adams, Katrina L., Riparini, Giulia, Banerjee, Payal, Breur, Marjolein, Bugiani, Marianna, Gallo, Vittorio

“…Signaling molecules that regulate neurodevelopmental processes in the early postnatal subventricular zone (SVZ) are critical for proper brain development yet…”
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Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies by de Waard, Dieuwke Maria, Bugiani, Marianna

“…Defective astrocyte function due to a genetic mutation can have major consequences for microglia and oligodendrocyte physiology, which in turn affects the…”
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Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal by Yadak, Rana, Breur, Marjolein, Bugiani, Marianna

“…MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and…”
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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective by Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I

“…Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme…”
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The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology by Yska, Hemmo A F, Engelen, Marc, Bugiani, Marianna

“…Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what…”
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Heterogeneity of white matter astrocytes in the human brain by Bugiani, Marianna, Plug, Bonnie C., Man, Jodie H. K., Breur, Marjolein, van der Knaap, Marjo S.

“…Astrocytes regulate central nervous system development, maintain its homeostasis and orchestrate repair upon injury. Emerging evidence support functional…”
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Astrocytes are central in the pathomechanisms of vanishing white matter by Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L, Polder, Emiel, Land, Niels, Horan, Stephen T, van Deijk, Anne-Lieke F, van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E, Scheper, Gert C, Abbink, Truus E M, Heine, Vivi M, van der Knaap, Marjo S

“…Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes encoding subunits of eukaryotic translation initiation factor 2B…”
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Retinoic acid induces blood-brain barrier development by Mizee, Mark R, Wooldrik, Desiree, Lakeman, Kim A M, van het Hof, Bert, Drexhage, Joost A R, Geerts, Dirk, Bugiani, Marianna, Aronica, Eleonora, Mebius, Reina E, Prat, Alexandre, de Vries, Helga E, Reijerkerk, Arie

“…The blood-brain barrier (BBB) is crucial in the maintenance of a controlled environment within the brain to safeguard optimal neuronal function. The…”
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Defining tumor-associated vascular heterogeneity in pediatric high-grade and diffuse midline gliomas by Wei, Xin, Meel, Michaël H, Breur, Marjolein, Bugiani, Marianna, Hulleman, Esther, Phoenix, Timothy N

“…The blood-brain barrier (BBB) plays important roles in brain tumor pathogenesis and treatment response, yet our understanding of its function and heterogeneity…”
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Twice in a Blue Moon: A Single Institution Case Series of Pericardial Mesothelioma by Heidendael, Josephine, Meijs, Timion, Schurink, Bernadette, Bugiani, Marianna, Frenaij, Irene, Robbers, Lourens, Boven, Wim Jan Van, Boekholdt, Matthijs

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Heat Shock Proteins: Old and Novel Roles in Neurodegenerative Diseases in the Central Nervous System by van Noort, Johannes M, Bugiani, Marianna, Amor, Sandra

“…Heat shock proteins (HSPs) are families of molecular chaperones that play important homeostatic functions in the central nervous system (CNS) by preventing…”
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Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter by Leferink, Prisca S., Breeuwsma, Nicole, Bugiani, Marianna, van der Knaap, Marjo S., Heine, Vivi M.

“…Leukodystrophies are often devastating diseases, presented with progressive clinical signs as spasticity, ataxia and cognitive decline, and lack proper…”
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Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease by BUGIANI, Marianna, POSTMA, Nienke, POLDER, Emiel, DIELEMAN, Nikki, SCHEFFER, Peter G, SIM, Fraser J, DER KNAAP, Marjo S. Van, BOOR, Ilja

“…Vanishing white matter disease is a genetic leukoencephalopathy caused by mutations in eukaryotic translation initiation factor 2B. Patients experience a…”
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DTYMK is essential for genome integrity and neuronal survival by Vanoevelen, Jo M., Bierau, Jörgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M. E. I., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, Stumpel, Constance T. R. M.

“…Nucleotide metabolism is a complex pathway regulating crucial cellular processes such as nucleic acid synthesis, DNA repair and proliferation. This study shows…”
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COVID‐19: Histopathological correlates of imaging patterns on chest computed tomography by Kianzad, Azar, Meijboom, Lilian J., Nossent, Esther J., Roos, Eva, Schurink, Bernadette, Bonta, Peter I., Berk, Inge A. H., Britstra, Rieneke, Stoker, Jaap, Vonk Noordegraaf, Anton, Valk, Paul, Thunnissen, Erik, Bugiani, Marianna, Bogaard, Harm Jan, Radonic, Teodora

“…Background and objective Patients with coronavirus disease 2019 (COVID‐19) pneumonia present with typical findings on chest computed tomography (CT), but the…”
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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy by Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.

“…NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in…”
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Brain Inflammation and Intracellular α-Synuclein Aggregates in Macaques after SARS-CoV-2 Infection by Philippens, Ingrid H C H M, Böszörményi, Kinga P, Wubben, Jacqueline A M, Fagrouch, Zahra C, van Driel, Nikki, Mayenburg, Amber Q, Lozovagia, Diana, Roos, Eva, Schurink, Bernadette, Bugiani, Marianna, Bontrop, Ronald E, Middeldorp, Jinte, Bogers, Willy M, de Geus-Oei, Lioe-Fee, Langermans, Jan A M, Verschoor, Ernst J, Stammes, Marieke A, Verstrepen, Babs E

“…SARS-CoV-2 causes acute respiratory disease, but many patients also experience neurological complications. Neuropathological changes with pronounced…”
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The neurovascular unit in leukodystrophies: towards solving the puzzle by Zarekiani, Parand, Nogueira Pinto, Henrique, Hol, Elly M, Bugiani, Marianna, de Vries, Helga E

“…The neurovascular unit (NVU) is a highly organized multicellular system localized in the brain, formed by neuronal, glial (astrocytes, oligodendrocytes, and…”
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Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease by Hondius, David C, Eigenhuis, Kristel N, Morrema, Tjado H J, van der Schors, Roel C, van Nierop, Pim, Bugiani, Marianna, Li, Ka Wan, Hoozemans, Jeroen J M, Smit, August B, Rozemuller, Annemieke J M

“…Alzheimer's disease (AD) is characterized by amyloid beta (Aβ) deposits as plaques in the parenchyma and in the walls of cortical and leptomeningeal blood…”
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