Publications by authors named "Marianna Bugiani"

83Publications

Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.

Front Cell Neurosci 2020 19;14:608073. Epub 2020 Nov 19.

Department of Pathology, VU Medical center, Amsterdam UMC, Amsterdam, Netherlands.

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November 2020

Reduction of GABA subunit theta-containing cortical neurons in schizophrenia.

Schizophr Res 2020 Nov 23. Epub 2020 Nov 23.

Department of Pathology, Amsterdam Neuroscience, Amsterdam University Medical Centres, location VUmc, Amsterdam, the Netherlands.

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November 2020

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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July 2020

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

J Inherit Metab Dis 2020 Nov 9;43(6):1265-1278. Epub 2020 Jul 9.

Department of Pediatric Neurology, Radboud university medical center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands.

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November 2020

Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone.

Nat Commun 2020 05 1;11(1):2138. Epub 2020 May 1.

Center for Neuroscience Research, Children's National Research Institute, Children's National Hospital, Washington, DC, 20010, USA.

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May 2020

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

Ann Clin Transl Neurol 2020 02 22;7(2):169-180. Epub 2020 Jan 22.

Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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February 2020

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

Adv Healthc Mater 2020 02 18;9(3):e1901257. Epub 2019 Dec 18.

School of Chemical and Biomedical Engineering, Nanyang Technological University, Singapore, 637459, Singapore.

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February 2020

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

Orphanet J Rare Dis 2019 11 4;14(1):240. Epub 2019 Nov 4.

Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, De Boelelaan 1117, Amsterdam, the Netherlands.

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November 2019

Astroglia in Leukodystrophies.

Adv Exp Med Biol 2019 ;1175:199-225

Department of Pathology, Free University Medical Centre, Amsterdam, The Netherlands.

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October 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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March 2019

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

Orphanet J Rare Dis 2019 02 8;14(1):33. Epub 2019 Feb 8.

Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.

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February 2019

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

J Neuropathol Exp Neurol 2019 01;78(1):3-9

Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario Canada.

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January 2019

Leukodystrophies - much more than just diseases of myelin.

Nat Rev Neurol 2018 12;14(12):747-748

Department of Neuropathology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, Netherlands.

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December 2018

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice.

BMC Gastroenterol 2018 Oct 19;18(1):149. Epub 2018 Oct 19.

Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.

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October 2018