Bugiani, Marianna

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Afucosylated IgG characterizes enveloped viral responses and correlates with COVID-19 severity

Larsen, M. D., de Graaf, E. L., Sonneveld, M. E., Plomp, H. R., Nouta, J., Hoepel, W., Chen, H.-J., Linty, F., Visser, R., Brinkhaus, M., et al. (2021) · Science

Monoclonal and Polyclonal Antibodies ResearchGlycosylation and Glycoproteins Research

Cited by 408

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

van der Knaap, M. S., & Bugiani, M. (2017) · Acta Neuropathologica

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 403

Clinical and molecular findings in children with complex I deficiency

Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., et al. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 264

Retinoic Acid Induces Blood–Brain Barrier Development

Mizee, M. R., Wooldrik, D., Lakeman, K. A. M., van het Hof, B., Drexhage, J. A. R., Geerts, D., Bugiani, M., Aronica, E., Mebius, R. E., Prat, A., et al. (2013) · The Journal of Neuroscience

Barrier Structure and Function StudiesDrug Transport and Resistance Mechanisms

Cited by 203

Leukoencephalopathy with vanishing white matter: a review

Bugiani, M., Boor, I., Powers, J. M., Scheper, G. C., & van der Knaap, M. S. (2010) · Journal of Neuropathology & Experimental Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 189

L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?

Moroni, I., Bugiani, M., D’Incerti, L., Maccagnano, C., Rimoldi, M., Bissola, L., Pollo, B., Finocchiaro, G., & Uziel, G. (2004) · Neurology

Metabolism and Genetic DisordersGlioma Diagnosis and Treatment

Cited by 118

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Lesnik Oberstein, S. A. M. J., & van der Knaap, M. S. (2016) · Neurology

Cerebrovascular and genetic disordersMetabolism and Genetic Disorders

Cited by 111

Axonal abnormalities in vanishing white matter.

Klok, M. D., Bugiani, M., de Vries, S. I., Gerritsen, W., Breur, M., van der Sluis, S., Heine, V. M., Kole, M. H. P., Baron, W., & van der Knaap, M. S. (2018) · Annals of Clinical and Translational Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 38

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

Plug, B. C., Revers, I. M., Breur, M., González, G. M., Timmerman, J. A., Meijns, N. R. C., Hamberg, D., Wagendorp, J., Nutma, E., Wolf, N. I., et al. (2024) · Acta Neuropathologica Communications

Neurological Disease Mechanisms and TreatmentsNeuroscience and Neuropharmacology Research

Cited by 25

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

Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 20