Marianna Bugiani

Affiliations

Departments of Child Neurology and Pathology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, 1081 HV, The Netherlands.

Publications (71)

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

Advanced healthcare materials

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

Biallelic variants in

Neurology

Avec: Marjo S van der Knaap , Marianna Bugiani , Marisa I Mendes , Lisa G Riley , Desiree E C Smith , Joëlle Rudinger-Thirion , Magali Frugier , Marjolein Breur , Joanna Crawford , Judith van Gaalen , Meyke Schouten , Marjolaine Willems , Quinten Waisfisz , Frederic Tran Mau-Them , Richard J Rodenburg , Ryan J Taft , Boris Keren , John Christodoulou , Christel Depienne , Cas Simons , Gajja S Salomons , Fanny Mochel

The Characteristics of Severe Chronic Upper-Airway Disease (SCUAD) in Patients with Allergic Rhinitis: A Real-Life Multicenter Cross-Sectional Italian Study.

International archives of allergy and immunology

Avec: Federica Gani , Carlo Lombardi , Giacomo Bonizzoni , Giovanni Rolla , Luisa Brussino , Massimo Landi , Michele Schiappoli , Gianenrico Senna , Eleonora Savi , Erminia Ridolo , Maria Teresa Ventura , Paolo Gamba , Vincenzo Patella , Massimo Bugiani

Viral presence and immunopathology in patients with lethal COVID-19: a prospective autopsy cohort study.

The Lancet. Microbe

Avec: Bernadette Schurink , Eva Roos , Teodora Radonic , Ellis Barbe , Catherine S C Bouman , Hans H de Boer , Godelieve J de Bree , Esther B Bulle , Eleonora M Aronica , Sandrine Florquin , Judith Fronczek , Leo M A Heunks , Menno D de Jong , Lihui Guo , Romy du Long , Rene Lutter , Pam C G Molenaar , E Andra Neefjes-Borst , Hans W M Niessen , Carel J M van Noesel , Joris J T H Roelofs , Eric J Snijder , Eline C Soer , Joanne Verheij , Alexander P J Vlaar , Wim Vos , Nicole N van der Wel , Allard C van der Wal , Paul van der Valk , Marianna Bugiani

Combined Therapy of AXL and HDAC Inhibition Reverses Mesenchymal Transition in Diffuse Intrinsic Pontine Glioma.

Clinical cancer research : an official journal of the American Association for Cancer Research

Avec: Michaël H Meel , Mark C de Gooijer , Dennis S Metselaar , A Charlotte P Sewing , Kenn Zwaan , Piotr Waranecki , Marjolein Breur , Levi C M Buil , Tonny Lagerweij , Laurine E Wedekind , Jos W R Twisk , Jan Koster , Rintaro Hashizume , Eric H Raabe , Ángel Montero Carcaboso , Marianna Bugiani , Timothy N Phoenix , Olaf van Tellingen , Dannis G van Vuurden , Gertjan J L Kaspers , Esther Hulleman

Heterogeneity of white matter astrocytes in the human brain.

Acta neuropathologica

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

The neurovascular unit in leukodystrophies: towards solving the puzzle.

Fluids and barriers of the CNS

Avec: Parand Zarekiani , Henrique Nogueira Pinto , Elly M Hol , Marianna Bugiani , Helga E de Vries

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.

Brain : a journal of neurology

Avec: Emma M J Passchier , Sven Kerst , Eelke Brouwers , Eline M C Hamilton , Quinty Bisseling , Marianna Bugiani , Quinten Waisfisz , Philip Kitchen , Lucas Unger , Marjolein Breur , Leoni Hoogterp , Sharon I de Vries , Truus E M Abbink , Maarten H P Kole , Rob Leurs , Henry F Vischer , Maria S Brignone , Elena Ambrosini , François Feillet , Alfred P Born , Leon G Epstein , Huibert D Mansvelder , Rogier Min , Marjo S van der Knaap

[Adhesive small bowel obstruction after surgery during infancy; a potentially fatal long term complication].

Nederlands tijdschrift voor geneeskunde

Avec: Fenne A I M van den Bunder , Dirk-Jan van Zuidam , Esther Edelenbos , Marianna Bugiani , Joep P M Derikx

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

Journal of neuropathology and experimental neurology

Avec: Kristina M Joyal , Jean Michaud , Marjo S van der Knaap , Marianna Bugiani , Sunita Venkateswaran

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

Prenatal diagnosis

Avec: Jill K Tjon , Gita M Tan-Sindhunata , Marianna Bugiani , Melinda M Witbreuk , Johannes A van der Sluijs , Marjan M Weiss , Laura A van de Pol , Mirjam M van Weissenbruch , Bloeme J van der Knoop , Johanna I de Vries

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

The lancet. Diabetes & endocrinology

Avec: Stefan Groeneweg , Ferdy S van Geest , Ayhan Abacı , Alberto Alcantud , Gautem P Ambegaonkar , Christine M Armour , Priyanka Bakhtiani , Diana Barca , Enrico S Bertini , Ingrid M van Beynum , Nicola Brunetti-Pierri , Marianna Bugiani , Marco Cappa , Gerarda Cappuccio , Barbara Castellotti , Claudia Castiglioni , Krishna Chatterjee , Irenaeus F M de Coo , Régis Coutant , Dana Craiu , Patricia Crock , Christian DeGoede , Korcan Demir , Alice Dica , Paul Dimitri , Anna Dolcetta-Capuzzo , Marjolein H G Dremmen , Rachana Dubey , Anina Enderli , Jan Fairchild , Jonathan Gallichan , Belinda George , Evelien F Gevers , Annette Hackenberg , Zita Halász , Bianka Heinrich , Tony Huynh , Anna Kłosowska , Marjo S van der Knaap , Marieke M van der Knoop , Daniel Konrad , David A Koolen , Heiko Krude , Amy Lawson-Yuen , Jan Lebl , Michaela Linder-Lucht , Cláudia F Lorea , Charles M Lourenço , Roelineke J Lunsing , Greta Lyons , Jana Malikova , Edna E Mancilla , Anne McGowan , Veronica Mericq , Felipe M Lora , Carla Moran , Katalin E Müller , Isabelle Oliver-Petit , Laura Paone , Praveen G Paul , Michel Polak , Francesco Porta , Fabiano O Poswar , Christina Reinauer , Klara Rozenkova , Tuba S Menevse , Peter Simm , Anna Simon , Yogen Singh , Marco Spada , Jet van der Spek , Milou A M Stals , Athanasia Stoupa , Gopinath M Subramanian , Davide Tonduti , Serap Turan , Corstiaan A den Uil , Joel Vanderniet , Adri van der Walt , Jean-Louis Wémeau , Jolante Wierzba , Marie-Claire Y de Wit , Nicole I Wolf , Michael Wurm , Federica Zibordi , Amnon Zung , Nitash Zwaveling-Soonawala , W Edward Visser

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

Respirology (Carlton, Vic.)

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

AURKA and PLK1 inhibition selectively and synergistically block cell cycle progression in diffuse midline glioma.

iScience

Avec: Dennis S Metselaar , Aimée du Chatinier , Michaël H Meel , Giovanna Ter Huizen , Piotr Waranecki , Joshua R Goulding , Marianna Bugiani , Jan Koster , Gertjan J L Kaspers , Esther Hulleman

Marchiafava-Bignami disease: why not Marchiafava-Bignami-Carducci disease?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Marianna Bugiani , Orso Bugiani

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.

Annals of clinical and translational neurology

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

Viral Presence and Immunopathology in a Kidney Transplant Recipient with Fatal COVID-19: A Clinical Autopsy Report.

Journal of leukocyte biology

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

Vanishing white matter.

Handbook of clinical neurology

Avec: Marjo S van der Knaap , Marianna Bugiani , Truus E M Abbink

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

Annals of clinical and translational neurology

Avec: Nicole I Wolf , Marjolein Breur , Bonnie Plug , Shanice Beerepoot , Aimee S R Westerveld , Diane F van Rappard , Sharon I de Vries , Maarten H P Kole , Adeline Vanderver , Marjo S van der Knaap , Caroline A Lindemans , Peter M van Hasselt , Jaap J Boelens , Ulrich Matzner , Volkmar Gieselmann , Marianna Bugiani

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

Orphanet journal of rare diseases

Avec: Shanice Beerepoot , Stefan Nierkens , Jaap Jan Boelens , Caroline Lindemans , Marianna Bugiani , Nicole I Wolf

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

Orphanet journal of rare diseases

Avec: Rana Yadak , Marjolein Breur , Marianna Bugiani

Cardiac inflammation and microvascular procoagulant changes are decreased in second wave compared to first wave deceased COVID-19 patients.

International journal of cardiology

Avec: Linghe Wu , Umit Baylan , Britt van der Leeden , Bernadette Schurink , Eva Roos , Casper G Schalkwijk , Marianna Bugiani , Paul van der Valk , Albert C van Rossum , Sacha S Zeerleder , Leo M A Heunks , Reinier A Boon , Onno J de Boer , Allard C van der Wal , Hans W M Niessen , Paul A J Krijnen

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

Neuropediatrics

Avec: Menno D Stellingwerff , Corinne Nulton , Guy Helman , Stefan D Roosendaal , William S Benko , Amy Pizzino , Marianna Bugiani , Adeline Vanderver , Cas Simons , Marjo S van der Knaap

Sex Differences in Severe Asthma: Results From Severe Asthma Network in Italy-SANI.

Allergy, asthma & immunology research

Avec: Gianenrico Senna , Manuela Latorre , Massimo Bugiani , Marco Caminati , Enrico Heffler , Daniela Morrone , Giovanni Paoletti , Paola Parronchi , Francesca Puggioni , Francesco Blasi , Giorgio Walter Canonica , Pierluigi Paggiaro , Auteur inconnu

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

Viruses

Avec: Ingrid H C H M Philippens , Kinga P Böszörményi , Jacqueline A M Wubben , Zahra C Fagrouch , Nikki van Driel , Amber Q Mayenburg , Diana Lozovagia , Eva Roos , Bernadette Schurink , Marianna Bugiani , Ronald E Bontrop , Jinte Middeldorp , Willy M Bogers , Lioe-Fee de Geus-Oei , Jan A M Langermans , Ernst J Verschoor , Marieke A Stammes , Babs E Verstrepen

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

Annals of clinical and translational neurology

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

Cortical interneuron development is affected in 4H leukodystrophy.

Brain : a journal of neurology

Avec: Stephanie Dooves , Liza M L Kok , Dwayne B Holmes , Nicole Breeuwsma , Marjolein Breur , Marianna Bugiani , Nicole I Wolf , Vivi M Heine

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.

Annals of clinical and translational neurology

Avec: Murtadha Al-Saady , Shanice Beerepoot , Bonnie C Plug , Marjolein Breur , Hristina Galabova , Petra J W Pouwels , Jaap-Jan Boelens , Caroline Lindemans , Peter M van Hasselt , Ulrich Matzner , Adeline Vanderver , Marianna Bugiani , Marjo S van der Knaap , Nicole I Wolf

Regional vulnerability of brain white matter in vanishing white matter.

Acta neuropathologica communications

Avec: Jodie H K Man , Charlotte A G H van Gelder , Marjolein Breur , Douwe Molenaar , Truus Abbink , Maarten Altelaar , Marianna Bugiani , Marjo S van der Knaap

Prolonged indoleamine 2,3-dioxygenase-2 activity and associated cellular stress in post-acute sequelae of SARS-CoV-2 infection.

EBioMedicine

Avec: Lihui Guo , Brent Appelman , Kirsten Mooij-Kalverda , Riekelt H Houtkooper , Michel van Weeghel , Frédéric M Vaz , Annemiek Dijkhuis , Tamara Dekker , Barbara S Smids , Jan Willem Duitman , Marianna Bugiani , Paul Brinkman , Jonne J Sikkens , H A Ayesha Lavell , Rob C I Wüst , Michèle van Vugt , René Lutter , Auteur inconnu

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

Orphanet journal of rare diseases

Avec: Hemmo A F Yska , Marc Engelen , Marianna Bugiani

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.

Acta neuropathologica communications

Avec: Bonnie C Plug , Ilma M Revers , Marjolein Breur , Gema Muñoz González , Jaap A Timmerman , Niels R C Meijns , Daniek Hamberg , Jikke Wagendorp , Erik Nutma , Nicole I Wolf , Antonio Luchicchi , Huibert D Mansvelder , Niek P van Til , Marjo S van der Knaap , Marianna Bugiani

Proteomic dissection of vanishing white matter pathogenesis.

Cellular and molecular life sciences : CMLS

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

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Annals of neurology

Avec: Paola Dimartino , Mariia Zadorozhna , Verónica Yumiceba , Anna Basile , Ilaria Cani , Uirá Souto Melo , Jana Henck , Marjolein Breur , Caterina Tonon , Raffaele Lodi , Alfredo Brusco , Tommaso Pippucci , Foteini-Dionysia Koufi , Elisa Boschetti , Giulia Ramazzotti , Lucia Manzoli , Stefano Ratti , Filippo Pinto E Vairo , Martin B Delatycki , Giovanna Vaula , Pietro Cortelli , Marianna Bugiani , Malte Spielmann , Elisa Giorgio

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

Journal of inherited metabolic disease

Avec: Pippa Staps , William B Rizzo , Frédéric M Vaz , Marianna Bugiani , Martin Giera , Bram Heijs , Antoine H C van Kampen , Mia L Pras-Raves , Marjolein Breur , Annemieke Groen , Sacha Ferdinandusse , Marinette van der Graaf , Gert Van Goethem , Martin Lammens , Ron A Wevers , Michèl A A P Willemsen

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

Neuro-oncology

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

Vanishing white matter: deregulated integrated stress response as therapy target.

Annals of clinical and translational neurology

Avec: Truus E M Abbink , Lisanne E Wisse , Ermelinda Jaku , Michiel J Thiecke , Daniel Voltolini-González , Hein Fritsen , Sander Bobeldijk , Timo J Ter Braak , Emiel Polder , Nienke L Postma , Marianna Bugiani , Eduard A Struijs , Mark Verheijen , Nina Straat , Sophie van der Sluis , Adri A M Thomas , Douwe Molenaar , Marjo S van der Knaap

Astroglia in Leukodystrophies.

Advances in experimental medicine and biology

Avec: M S Jorge , Marianna Bugiani

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

Acta neuropathologica communications

Avec: Xin Wei , Michaël H Meel , Marjolein Breur , Marianna Bugiani , Esther Hulleman , Timothy N Phoenix

DTYMK is essential for genome integrity and neuronal survival.

Acta neuropathologica

Avec: Jo M Vanoevelen , Jörgen Bierau , Janine C Grashorn , Ellen Lambrichs , Erik-Jan Kamsteeg , Levinus A Bok , Ron A Wevers , Marjo S van der Knaap , Marianna Bugiani , Junmei Hu Frisk , Rita Colnaghi , Mark O'Driscoll , Debby M E I Hellebrekers , Richard Rodenburg , Carlos R Ferreira , Han G Brunner , Arthur van den Wijngaard , Ghada M H Abdel-Salam , Liya Wang , Constance T R M Stumpel

COVID-19 is associated with distinct myopathic features in the diaphragm of critically ill patients.

BMJ open respiratory research

Avec: Zhonghua Shi , Sylvia J P Bogaards , Stefan Conijn , Yeszamin Onderwater , Pedro Espinosa , Diewertje I Bink , Marloes van den Berg , Martijn van de Locht , Marianna Bugiani , Hans van der Hoeven , Reinier A Boon , Leo Heunks , Coen A C Ottenheijm

Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.

Frontiers in cellular neuroscience

Avec: Dieuwke Maria de Waard , Marianna Bugiani

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

Journal of child neurology

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

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

Nature communications

Avec: Katrina L Adams , Giulia Riparini , Payal Banerjee , Marjolein Breur , Marianna Bugiani , Vittorio Gallo

Pathology of the neurovascular unit in leukodystrophies.

Acta neuropathologica communications

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

Molecular therapy. Methods & clinical development

Avec: Anne E J Hillen , Martina Hruzova , Tanja Rothgangl , Marjolein Breur , Marianna Bugiani , Marjo S van der Knaap , Gerald Schwank , Vivi M Heine

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

Acta neuropathologica

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

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

Annals of neurology

Avec: Guy Helman , Parand Zarekiani , Samantha A M Tromp , Ashley Andrews , Lorenzo D Botto , Joshua L Bonkowsky , Anna Chassevent , Elisa Giorgio , Tommaso Pippucci , Shen Wei , Constance Smith-Hicks , Giovanna Vaula , Michèl A A P Willemsen , Mareike Schimmel , Kurt Vollert , Fumitaka Shimizu , Takashi Kanda , Matthew Lynch , Tony Roscioli , Ryan J Taft , Cas Simons , Marianna Bugiani , Taco W Kuijpers , Marjo S van der Knaap

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

Frontiers in medicine

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

Region-specific and age-related differences in astrocytes in the human brain.

Neurobiology of aging

Avec: Jodie H K Man , Marjolein Breur , Charlotte A G H van Gelder , Gabriella Marcon , Emanuela Maderna , Giorgio Giaccone , Maarten Altelaar , Marjo S van der Knaap , Marianna Bugiani

Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II.

Physiological reports

Avec: S Storoni , L Celli , M Breur , D Micha , S J E Verdonk , A Maugeri , J G van den Aardweg , M Riminucci , E M W Eekhoff , M Bugiani

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Brain : a journal of neurology

Avec: Caroline G Bergner , Marjolein Breur , M Clara Soto-Bernardini , Lisa Schäfer , Julia Lier , Diana Le Duc , Linnaeus Bundalian , Susanna Schubert , David Brenner , Friedmar R Kreuz , Björn Schulte , Quinten Waisfisz , Marianna Bugiani , Wolfgang Köhler , Heinrich Sticht , Rami Abou Jamra , Marjo S van der Knaap

Tobacco Smoke Exposure, Urban and Environmental Factors as Respiratory Disease Predictors in Italian Adolescents.

International journal of environmental research and public health

Avec: Valeria Bellisario , Pavilio Piccioni , Massimiliano Bugiani , Giulia Squillacioti , Stefano Levra , Carlo Gulotta , Giulio Mengozzi , Alberto Perboni , Elena Grignani , Roberto Bono

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Avec: Pauline C Schut , Clara M A Ten Broek , Titia E Cohen-Overbeek , Marianna Bugiani , Eric A P Steegers , Alex J Eggink , Frietson Galis

Bisphenol A, Tobacco Smoke, and Age as Predictors of Oxidative Stress in Children and Adolescents.

International journal of environmental research and public health

Avec: Roberto Bono , Valeria Bellisario , Roberta Tassinari , Giulia Squillacioti , Tilde Manetta , Massimiliano Bugiani , Enrica Migliore , Pavilio Piccioni

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

Fetal diagnosis and therapy

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

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review.

Annals of medicine

Avec: S Storoni , S Treurniet , D Micha , M Celli , M Bugiani , J G van den Aardweg , E M W Eekhoff

Indoleamine 2,3-dioxygenase (IDO)-1 and IDO-2 activity and severe course of COVID-19.

The Journal of pathology

Avec: Lihui Guo , Bernadette Schurink , Eva Roos , Esther J Nossent , Jan Willem Duitman , Alexander Pj Vlaar , Paul van der Valk , Frédéric M Vaz , Syun-Ru Yeh , Zachary Geeraerts , Annemiek Dijkhuis , Lonneke van Vught , Marianna Bugiani , René Lutter , Auteur inconnu

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.

Neuropediatrics

Avec: Murtadha L Al-Saady , Charlotte S Kaiser , Felipe Wakasuqui , G Christoph Korenke , Quinten Waisfisz , Abeltje Polstra , Petra J W Pouwels , Marianna Bugiani , Marjo S van der Knaap , Roelineke J Lunsing , Eva Liebau , Nicole I Wolf

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.

American journal of medical genetics. Part A

Avec: Luc Bruyndonckx , Judith L Vogelzang , Marianna Bugiani , Bart Straver , Irene M Kuipers , Wes Onland , Eline A Nannenberg , Sally-Ann Clur , Saskia N van der Crabben

Neuropathology of

Brain communications

Avec: Anke A Dijkstra , Saif N Haify , Niek A Verwey , Niels D Prins , Esmay C van der Toorn , Annemieke J M Rozemuller , Marianna Bugiani , Wilfred F A den Dunnen , Peter K Todd , Nicolas Charlet-Berguerand , Rob Willemsen , Renate K Hukema , Jeroen J M Hoozemans

Lipid and Nucleocapsid N-Protein Accumulation in COVID-19 Patient Lung and Infected Cells.

Microbiology spectrum

Avec: Anita E Grootemaat , Sanne van der Niet , Edwin R Scholl , Eva Roos , Bernadette Schurink , Marianna Bugiani , Sara E Miller , Per Larsen , Jeannette Pankras , Eric A Reits , Nicole N van der Wel

Age-related changes in plasma biomarkers and their association with mortality in COVID-19.

The European respiratory journal

Avec: Erik H A Michels , Brent Appelman , Justin de Brabander , Rombout B E van Amstel , Osoul Chouchane , Christine C A van Linge , Alex R Schuurman , Tom D Y Reijnders , Titia A L Sulzer , Augustijn M Klarenbeek , Renée A Douma , Auteur inconnu , Lieuwe D J Bos , W Joost Wiersinga , Hessel Peters-Sengers , Tom van der Poll , Auteur inconnu , Michiel van Agtmael , Anne Geke Algera , Brent Appelman , Floor van Baarle , Martijn Beudel , Harm Jan Bogaard , Marije Bomers , Peter Bonta , Lieuwe Bos , Michela Botta , Justin de Brabander , Godelieve de Bree , Sanne de Bruin , Marianna Bugiani , Esther Bulle , David T P Buis , Osoul Chouchane , Alex Cloherty , Mirjam Dijkstra , Dave A Dongelmans , Romein W G Dujardin , Paul Elbers , Lucas Fleuren , Suzanne Geerlings , Theo Geijtenbeek , Armand Girbes , Bram Goorhuis , Martin P Grobusch , Laura Hagens , Jorg Hamann , Vanessa Harris , Robert Hemke , Sabine M Hermans , Leo Heunks , Markus Hollmann , Janneke Horn , Joppe W Hovius , Hanna K de Jong , Menno D de Jong , Rutger Koning , Bregje Lemkes , Endry H T Lim , Niels van Mourik , Jeaninne Nellen , Esther J Nossent , Sabine Olie , Frederique Paulus , Edgar Peters , Dan A I Pina-Fuentes , Tom van der Poll , Bennedikt Preckel , Jan M Prins , Jorinde Raasveld , Tom Reijnders , Maurits C F J de Rotte , Michiel Schinkel , Marcus J Schultz , Femke A P Schrauwen , Alex Schuurman , Jaap Schuurmans , Kim Sigaloff , Marleen A Slim , Patrick Smeele , Marry Smit , Cornelis S Stijnis , Willemke Stilma , Charlotte Teunissen , Patrick Thoral , Anissa M Tsonas , Pieter R Tuinman , Marc van der Valk , Denise P Veelo , Carolien Volleman , Heder de Vries , Lonneke A Vught , Michèle van Vugt , Dorien Wouters , A H Koos Zwinderman , Matthijs C Brouwer , W Joost Wiersinga , Alexander P J Vlaar , Diederik van de Beek

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

Calcified tissue international

Avec: 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

SARS-CoV-2 infection causes dopaminergic neuron senescence.

Cell stem cell

Avec: Liuliu Yang , Tae Wan Kim , Yuling Han , Manoj S Nair , Oliver Harschnitz , Jiajun Zhu , Pengfei Wang , So Yeon Koo , Lauretta A Lacko , Vasuretha Chandar , Yaron Bram , Tuo Zhang , Wei Zhang , Feng He , Chendong Pan , Junjie Wu , Yaoxing Huang , Todd Evans , Paul van der Valk , Maarten J Titulaer , Jochem K H Spoor , Robert L Furler O'Brien , Marianna Bugiani , Wilma D J Van de Berg , Robert E Schwartz , David D Ho , Lorenz Studer , Shuibing Chen

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

Journal of neurology

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

Marked IDO2 expression and activity related to autophagy and apoptosis in brain tissue of fatal tuberculous meningitis.

Tuberculosis (Edinburgh, Scotland)

Avec: Lihui Guo , Stefan-Dan Zaharie , A Marceline van Furth , Nicole N van der Wel , Anita E Grootemaat , Lin Zhang , Marianna Bugiani , Mariana Kruger , Martijn van der Kuip , René Lutter

Cortical Pathology in Vanishing White Matter.

Cells

Avec: Jodie H K Man , Charlotte A G H van Gelder , Marjolein Breur , Daniel Okkes , Douwe Molenaar , Sophie van der Sluis , Truus Abbink , Maarten Altelaar , Marjo S van der Knaap , Marianna Bugiani

Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.

Molecular neurobiology

Avec: Irene Neri , Giulia Ramazzotti , Sara Mongiorgi , Isabella Rusciano , Marianna Bugiani , Luciano Conti , Margot Cousin , Elisa Giorgio , Quasar S Padiath , Giovanna Vaula , Pietro Cortelli , Lucia Manzoli , Stefano Ratti

Gemcitabine therapeutically disrupts essential SIRT1-mediated p53 repression in atypical teratoid/rhabdoid tumors.

Cell reports. Medicine

Avec: Dennis S Metselaar , Michaël H Meel , Joshua R Goulding , Aimeé du Chatinier , Leyla Rigamonti , Piotr Waranecki , Neal Geisemeyer , Mark C de Gooijer , Marjolein Breur , Jan Koster , Sophie E M Veldhuijzen van Zanten , Marianna Bugiani , Niels E Franke , Alyssa Reddy , Pieter Wesseling , Gertjan J L Kaspers , Esther Hulleman

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

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

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

Réseau de co-auteurs

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