Works matching AU Bugiani, Marianna

Results: 89

On Italian neuropathology and its decline: when and how will it be revived?

Published in:

Neurological Sciences, 2025, v. 46, n. 5, p. 2321, doi. 10.1007/s10072-025-08008-x

By:

Bugiani, Orso;
Bugiani, Marianna

Publication type:

Article

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

Published in:

Calcified Tissue International, 2024, v. 114, n. 3, p. 210, doi. 10.1007/s00223-023-01171-3

By:

Verdonk, Sara J. E.;
Storoni, Silvia;
Micha, Dimitra;
van den Aardweg, Joost G.;
Versacci, Paolo;
Celli, Luca;
de Vries, Ralph;
Zhytnik, Lidiia;
Kamp, Otto;
Bugiani, Marianna;
Eekhoff, Elisabeth M. W.

Publication type:

Article

Glioblastoma, IDH-wildtype with primarily leptomeningeal localization diagnosed by nanopore sequencing of cell-free DNA from cerebrospinal fluid.

Published in:

Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02792-0

By:

Sol, Nik;
Kooi, Evert-Jan;
Pagès-Gallego, Marc;
Brandsma, Dieta;
Bugiani, Marianna;
de Ridder, Jeroen;
Wesseling, Pieter;
Vermeulen, Carlo

Publication type:

Article

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.

Published in:

Acta Neuropathologica, 2022, v. 144, n. 2, p. 211, doi. 10.1007/s00401-022-02440-5

By:

Berdowski, Woutje M.;
van der Linde, Herma C.;
Breur, Marjolein;
Oosterhof, Nynke;
Beerepoot, Shanice;
Sanderson, Leslie;
Wijnands, Lieve I.;
de Jong, Patrick;
Tsai-Meu-Chong, Elisa;
de Valk, Walter;
de Witte, Moniek;
van IJcken, Wilfred F. J.;
Demmers, Jeroen;
van der Knaap, Marjo S.;
Bugiani, Marianna;
Wolf, Nicole I.;
van Ham, Tjakko J.

Publication type:

Article

DTYMK is essential for genome integrity and neuronal survival.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0

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.

Publication type:

Article

Heterogeneity of white matter astrocytes in the human brain.

Published in:

Acta Neuropathologica, 2022, v. 143, n. 2, p. 159, doi. 10.1007/s00401-021-02391-3

By:

Bugiani, Marianna;
Plug, Bonnie C.;
Man, Jodie H. K.;
Breur, Marjolein;
van der Knaap, Marjo S.

Publication type:

Article

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

Published in:

Acta Neuropathologica, 2017, v. 134, n. 3, p. 351, doi. 10.1007/s00401-017-1739-1

By:

Knaap, Marjo;
Bugiani, Marianna

Publication type:

Article

Childhood white matter disorders: much more than just diseases of myelin.

Published in:

2017

By:

Bugiani, Marianna;
Knaap, Marjo

Publication type:

Editorial

Subventricular spread of diffuse intrinsic pontine glioma.

Published in:

2014

By:

Caretti, Viola;
Bugiani, Marianna;
Freret, Morgan;
Schellen, Pepijn;
Jansen, Marc;
Vuurden, Dannis;
Kaspers, Gertjan;
Fisher, Paul;
Hulleman, Esther;
Wesseling, Pieter;
Vogel, Hannes;
Monje, Michelle

Publication type:

Letter

Human pontine glioma cells can induce murine tumors.

Published in:

Acta Neuropathologica, 2014, v. 127, n. 6, p. 897, doi. 10.1007/s00401-014-1272-4

By:

Caretti, Viola;
Sewing, A.;
Lagerweij, Tonny;
Schellen, Pepijn;
Bugiani, Marianna;
Jansen, Marc;
Vuurden, Dannis;
Navis, Anna;
Horsman, Ilona;
Vandertop, W.;
Noske, David;
Wesseling, Pieter;
Kaspers, Gertjan;
Nazarian, Javad;
Vogel, Hannes;
Hulleman, Esther;
Monje, Michelle;
Wurdinger, Thomas

Publication type:

Article

Defining tumor-associated vascular heterogeneity in pediatric high-grade and diffuse midline gliomas.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01243-1

By:

Wei, Xin;
Meel, Michaël H.;
Breur, Marjolein;
Bugiani, Marianna;
Hulleman, Esther;
Phoenix, Timothy N.

Publication type:

Article

Pathology of the neurovascular unit in leukodystrophies.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01206-6

By:

Zarekiani, Parand;
Breur, Marjolein;
Wolf, Nicole I.;
de Vries, Helga E.;
van der Knaap, Marjo S.;
Bugiani, Marianna

Publication type:

Article

Developmental Origins of Limb Developmental Instability in Human Fetuses: Many Abnormalities Make the Difference.

Published in:

Symmetry (20738994), 2017, v. 9, n. 4, p. 51, doi. 10.3390/sym9040051

By:

ten Broek, Clara M. A.;
Bots, Jessica;
Bugiani, Marianna;
Galis, Frietson;
van Dongen, Stefan

Publication type:

Article

ACE2 Protein Expression During Childhood, Adolescence, and Early Adulthood.

Published in:

Pediatric & Developmental Pathology, 2022, v. 25, n. 4, p. 404, doi. 10.1177/10935266221075312

By:

Schurink, Bernadette;
Roos, Eva;
Vos, Wim;
Breur, Marjolein;
van der Valk, Paul;
Bugiani, Marianna

Publication type:

Article

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

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 904, doi. 10.1002/acn3.51772

By:

Bugiani, Marianna;
Abbink, Truus E. M.;
Edridge, Arthur W. D.;
van der Hoek, Lia;
Hillen, Anne E. J.;
van Til, Niek P.;
Hu‐A‐Ng, Gino V.;
Breur, Marjolein;
Aiach, Karen;
Drevot, Philippe;
Hocquemiller, Michaël;
Laufer, Ralph;
Wijburg, Frits A.;
van der Knaap, Marjo S.

Publication type:

Article

Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1147, doi. 10.1002/acn3.51611

By:

Witkamp, Diede;
Oudejans, Ellen;
Hu‐A‐Ng, Gino V.;
Hoogterp, Leoni;
Krzywańska, Aleksandra M.;
Žnidaršič, Milo;
Marinus, Kevin;
de Veij Mestdagh, Christina F.;
Bartelink, Imke;
Bugiani, Marianna;
van der Knaap, Marjo S.;
Abbink, Truus E. M.

Publication type:

Article

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

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

Axonal abnormalities in vanishing white matter.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 4, p. 429, doi. 10.1002/acn3.540

By:

Klok, Melanie D.;
Bugiani, Marianna;
de Vries, Sharon I.;
Gerritsen, Wouter;
Breur, Marjolein;
van der Sluis, Sophie;
Heine, Vivi M.;
Kole, Maarten H. P.;
Baron, Wia;
van der Knaap, Marjo S.

Publication type:

Article

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 7, p. 450, doi. 10.1002/acn3.405

By:

Bugiani, Marianna;
Dubey, Mohit;
Breur, Marjolein;
Postma, Nienke L.;
Dekker, Marien P.;
Braak, Timo;
Boschert, Ursula;
Abbink, Truus E. M.;
Mansvelder, Huibert D.;
Min, Rogier;
Weering, Jan R. T.;
Knaap, Marjo S.

Publication type:

Article

Interferon- α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 774, doi. 10.1002/acn3.213

By:

Klok, Melanie D.;
Bakels, Hannah S.;
Postma, Nienke L.;
Spaendonk, Rosalina M. L.;
Knaap, Marjo S.;
Bugiani, Marianna

Publication type:

Article

Neuropathology of FMR1‐premutation carriers presenting with dementia and neuropsychiatric symptoms: Human neuropathology/other.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044916

By:

Dijkstra, Anke A.;
Haify, Saif;
Verwey, Nicolaas A.;
Prins, Niels D.;
van der Toorn, Esmay;
Rozemuller, Annemieke J.M.;
Bugiani, Marianna;
den Dunnen, Wilfred;
Todd, Peter K.;
Charlet‐Berguerand, Nicolas;
Willemsen, Rob;
Hukema, Renate;
Hoozemans, Jeroen J.M.

Publication type:

Article

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Published in:

Journal of Neurology, 2024, v. 271, n. 7, p. 4028, doi. 10.1007/s00415-024-12322-3

By:

Beerepoot, Shanice;
Boelens, Jaap Jan;
Lindemans, Caroline;
de Witte, Moniek A.;
Nierkens, Stefan;
Vrancken, Alexander F. J. E.;
van der Knaap, Marjo S.;
Bugiani, Marianna;
Wolf, Nicole I.

Publication type:

Article

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Published in:

Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0148-0

By:

McKie, Arthur;
Alsaedi, Atif;
Vogt, Julie;
Stuurman, Kyra;
Weiss, Marjan;
Shakeel, Hassan;
Tee, Louise;
Morgan, Neil;
Nikkels, Peter;
van Haaften, Gijs;
Park, Soo-Mi;
van der Smagt, Jasper;
Bugiani, Marianna;
Maher, Eamonn

Publication type:

Article

MEK/MELK inhibition and blood–brain barrier deficiencies in atypical teratoid/rhabdoid tumors.

Published in:

Neuro-Oncology, 2020, v. 22, n. 1, p. 58, doi. 10.1093/neuonc/noz151

By:

Meel, Michaël H;
Navarro, Miriam Guillén;
Gooijer, Mark C de;
Metselaar, Dennis S;
Waranecki, Piotr;
Breur, Marjolein;
Lagerweij, Tonny;
Wedekind, Laurine E;
Koster, Jan;
Wetering, Marianne D van de;
Meeteren, Netteke Schouten-van;
Aronica, Eleonora;
Tellingen, Olaf van;
Bugiani, Marianna;
Phoenix, Timothy N;
Kaspers, Gertjan J L;
Hulleman, Esther

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1241, doi. 10.1093/hmg/ddm072

By:

Fernandez-Vizarra, Erika;
Bugiani, Marianna;
Goffrini, Paola;
Carrara, Franco;
Farina, Laura;
Procopio, Elena;
Donati, Alice;
Uziel, Graziella;
Ferrero, Iliana;
Zeviani, Massimo

Publication type:

Article

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

Published in:

2018

By:

Dubey, Mohit;
Brouwers, Eelke;
Hamilton, Eline M. C.;
Stiedl, Oliver;
Bugiani, Marianna;
Koch, Henner;
Kole, Maarten H. P.;
Boschert, Ursula;
Wykes, Robert C.;
Mansvelder, Huibert D.;
van der Knaap, Marjo S.;
Min, Rogier

Publication type:

journal article

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.

Published in:

2017

By:

Duncan, Ian D.;
Bugiani, Marianna;
Radcliff, Abigail B.;
Moran, John J.;
Lopez‐Anido, Camila;
Duong, Phu;
August, Benjamin K.;
Wolf, Nicole I.;
van der Knaap, Marjo S.;
Svaren, John;
Lopez-Anido, Camila

Publication type:

journal article

Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle.

Published in:

Annals of Neurology, 2015, v. 77, n. 1, p. 114, doi. 10.1002/ana.24307

By:

Dubey, Mohit;
Bugiani, Marianna;
Ridder, Margreet C.;
Postma, Nienke L.;
Brouwers, Eelke;
Polder, Emiel;
Jacobs, J. Gerbren;
Baayen, Johannes C.;
Klooster, Jan;
Kamermans, Maarten;
Aardse, Romy;
Kock, Christiaan P. J.;
Dekker, Marien P.;
Weering, Jan R. T.;
Heine, Vivi M.;
Abbink, Truus E. M.;
Scheper, Gert C.;
Boor, Ilja;
Lodder, Johannes C.;
Mansvelder, Huibert D.

Publication type:

Article

Phenotypic characterization of hypomyelination and congenital cataract.

Published in:

Annals of Neurology, 2007, v. 62, n. 2, p. 121, doi. 10.1002/ana.21175

By:

Biancheri, Roberta;
Zara, Federico;
Bruno, Claudio;
Rossi, Andrea;
Bordo, Laura;
Gazzerro, Elisabetta;
Sotgia, Federica;
Pedemonte, Marina;
Scapolan, Sara;
Bado, Massimo;
Uziel, Graziella;
Bugiani, Marianna;
Lamba, Laura Doria;
Costa, Valeria;
Schenone, Angelo;
Rozemuller, Annemieke J. M.;
Tortori-Donati, Paolo;
Lisanti, Michael P.;
van der Knaap, Marjo S.;
Minetti, Carlo

Publication type:

Article

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8.

Published in:

Annals of Neurology, 2002, v. 52, n. 2, p. 227, doi. 10.1002/ana.10246

By:

Bizzi, Alberto;
Bugiani, Marianna;
Salomons, Gajja S.;
Hunneman, Donald H.;
Moroni, Isabella;
Estienne, Margherita;
Danesi, Ugo;
Jakobs, Cornelis;
Uziel, Graziella

Publication type:

Article

Multiregional Tumor Drug-Uptake Imaging by PET and Microvascular Morphology in End-Stage Diffuse Intrinsic Pontine Glioma.

Published in:

Journal of Nuclear Medicine, 2018, v. 59, n. 4, p. 612, doi. 10.2967/jnumed.117.197897

By:

van Zanten, Sophie E. M. Veldhuijzen;
Sewing, A. Charlotte P.;
van Lingen, Arthur;
Hoekstra, Otto S.;
Wesseling, Pieter;
Meel, Michaël H.;
van Vuurden, Dannis G.;
Kaspers, Gertjan J. L.;
Hulleman, Esther;
Bugiani, Marianna

Publication type:

Article

Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique.

Published in:

Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2023.1301873

By:

Storoni, Silvia;
Verdonk, Sara J. E.;
Micha, Dimitra;
Jak, Patrick M. C.;
Bugiani, Marianna;
Eekhoff, Elisabeth M. W.;
van den Aardweg, Joost G.

Publication type:

Article

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Published in:

2015

By:

Bettencourt, Conceição;
Yébenes, Justo;
López-Sendón, José;
Shomroni, Orr;
Zhang, Xingqian;
Qian, Shu-Bing;
Bakker, Ingrid;
Heetveld, Sasja;
Ros, Raquel;
Quintáns, Beatriz;
Sobrido, María-Jesús;
Bevova, Marianna;
Jain, Shushant;
Bugiani, Marianna;
Heutink, Peter;
Rizzu, Patrizia

Publication type:

Letter

Modulating Macrophage Phenotype by Sustained MicroRNA Delivery Improves Host‐Implant Integration.

Published in:

Advanced Healthcare Materials, 2020, v. 9, n. 3, p. 1, doi. 10.1002/adhm.201901257

By:

Lin, Junquan;
Mohamed, Ibrahim;
Lin, Po Hen;
Shirahama, Hitomi;
Milbreta, Ulla;
Sieow, Je Lin;
Peng, Yanfen;
Bugiani, Marianna;
Wong, Siew Cheng;
Levinson, Howard;
Chew, Sing Yian

Publication type:

Article

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 2, p. 133, doi. 10.1177/0883073820958330

By:

Helman, Guy;
Viaene, Angela N.;
Takanohashi, Asako;
Breur, Marjolein;
Berger, Rebecca;
Woidill, Sarah;
Cottrell, John R.;
Schiffmann, Raphael;
Crow, Yanick J.;
Simons, Cas;
Bugiani, Marianna;
Vanderver, Adeline

Publication type:

Article

Alexander Disease.

Published in:

Journal of Child Neurology, 2017, v. 32, n. 2, p. 184, doi. 10.1177/0883073816673263

By:

Tavasoli, Ali;
Armangue, Thais;
Ho, Cheng-Ying;
Whitehead, Matthew;
Bornhorst, Miriam;
Rhee, Jullie;
Hwang, Eugene I.;
Wells, Elizabeth M.;
Packer, Roger;
van der Knaap, Marjo S.;
Bugiani, Marianna;
Vanderver, Adeline

Publication type:

Article

Viral presence and immunopathology in a kidney transplant recipient with fatal COVID-19: a clinical autopsy report.

Published in:

Journal of Leukocyte Biology, 2024, v. 115, n. 4, p. 780, doi. 10.1093/jleuko/qiae016

By:

van Eijk, Larissa E;
Bourgonje, Arno R;
Mastik, Mirjam F;
Snippe, Dirk;
Bulthuis, Marian L C;
Vos, Wim;
Bugiani, Marianna;
Smit, Jolanda M;
Berger, Stefan P;
van der Voort, Peter H J;
van Goor, Harry;
den Dunnen, Wilfred F A;
Hillebrands, Jan-Luuk

Publication type:

Article

Proteomic dissection of vanishing white matter pathogenesis.

Published in:

Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05258-4

By:

Man, Jodie H. K.;
Zarekiani, Parand;
Mosen, Peter;
de Kok, Mike;
Debets, Donna O.;
Breur, Marjolein;
Altelaar, Maarten;
van der Knaap, Marjo S.;
Bugiani, Marianna

Publication type:

Article

Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0540-2

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.

Publication type:

Article

COVID‐19: Histopathological correlates of imaging patterns on chest computed tomography.

Published in:

Respirology, 2021, v. 26, n. 9, p. 869, doi. 10.1111/resp.14101

By:

Kianzad, Azar;
Meijboom, Lilian J.;
Nossent, Esther J.;
Roos, Eva;
Schurink, Bernadette;
Bonta, Peter I.;
van den Berk, Inge A. H.;
Britstra, Rieneke;
Stoker, Jaap;
Vonk Noordegraaf, Anton;
van der Valk, Paul;
Thunnissen, Erik;
Bugiani, Marianna;
Bogaard, Harm Jan;
Radonic, Teodora

Publication type:

Article

Astrocytes are central in the pathomechanisms of vanishing white matter.

Published in:

2016

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.

Publication type:

journal article

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Published in:

Glia, 2018, v. 66, n. 4, p. 862, doi. 10.1002/glia.23289

By:

Leferink, Prisca S.;
Breeuwsma, Nicole;
Bugiani, Marianna;
van der Knaap, Marjo S.;
Heine, Vivi M.

Publication type:

Article

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

Published in:

Movement Disorders, 2006, v. 21, n. 9, p. 1453, doi. 10.1002/mds.20984

By:

Canafoglia, Laura;
Bugiani, Marianna;
Uziel, Graziella;
Dalla Bernardina, Bernardo;
Ciano, Claudia;
Scaioli, Vidmer;
Avanzini, Giuliano;
Franceschetti, Silvana;
Panzica, Ferruccio

Publication type:

Article

Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.

Published in:

Pediatric & Developmental Pathology, 2025, v. 28, n. 1, p. 24, doi. 10.1177/10935266241272511

By:

Verdonk, Sara J. E.;
Storoni, Silvia;
Zhytnik, Lidiia;
Micha, Dimitra;
van den Aardweg, Joost G.;
Kamp, Otto;
Eekhoff, Elisabeth M. W.;
Bugiani, Marianna

Publication type:

Article

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.

Published in:

2021

By:

Tjon, Jill K.;
Tan-Sindhunata, Maria B.;
Bugiani, Marianna;
Witbreuk, Melinda M.E.H.;
van der Sluijs, Johannes A.;
Weiss, Marjan M.;
van Weissenbruch, Mirjam M.;
van de Pol, Laura A.;
Buizer, Annemieke I.;
van Doesburg, Margriet H.M.;
Bakker, Petra C.A.M.;
van der Knoop, Bloeme J.;
Linskens, Ingeborg H.;
de Vries, Johanna I.P.

Publication type:

journal article

Generation of immunocompetent syngeneic allograft mouse models for pediatric diffuse midline glioma.

Published in:

Neuro-Oncology Advances, 2022, v. 4, n. 1, p. 1, doi. 10.1093/noajnl/vdac079

By:

du Chatinier, Aimée;
Meel, Michaël H.;
Das, Arvid I.;
Metselaar, Dennis S.;
Waranecki, Piotr;
Bugiani, Marianna;
Breur, Marjolein;
Simonds, Erin F.;
Lu, Edbert D.;
Weiss, William A.;
Vallejo, Juan J. Garcia;
Hoving, Eelco W.;
Phoenix, Timothy N.;
Hulleman, Esther

Publication type:

Article

Brain Inflammation and Intracellular α-Synuclein Aggregates in Macaques after SARS-CoV-2 Infection.

Published in:

Viruses (1999-4915), 2022, v. 14, n. 4, p. N.PAG, doi. 10.3390/v14040776

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.

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03105-0

By:

Yska, Hemmo A.F.;
Engelen, Marc;
Bugiani, Marianna

Publication type:

Article