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Marius I. Iurascu

Observed names: Marius Ionut Iurascu, Marius Ionuţ Iuraşcu, Marius Iurascu, Marius-Ionuţ Iuraşcu, Marius-Ionuț Iurașcu, Marius‐Ionuţ Iuraşcu
Institution: Centogene (Germany)
ORCID: 0000-0003-3791-7050
Observed ORCID: 0000-0003-3791-7050
OpenAlex ID: A5109049329
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
2020 · Aida M. Bertoli-Avella, Christian Beetz, et al. · European Journal of Human Genetics · 125
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
2022 · Tama Dinur, Peter Bauer, et al. · International Journal of Molecular Sciences · 44
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease
2017 · Claudia Cozma, Marius-Ionuț Iurașcu, et al. · Scientific Reports · 41
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Structural characterization of ß-amyloid oligomer-aggregates by ion mobility mass spectrometry and electron spin resonance spectroscopy
2009 · Marius Ionuţ Iuraşcu, Claudia Cozma, et al. · Analytical and Bioanalytical Chemistry · 38
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
2023 · Pilar Guatibonza Moreno, Luba M. Pardo, et al. · European Journal of Human Genetics · 23
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
2019 · Claudia Cozma, Marina Hovakimyan, et al. · Orphanet Journal of Rare Diseases · 22
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Characterization of Oligomerization–Aggregation Products of Neurodegenerative Target Proteins by Ion Mobility Mass Spectrometry
2012 · Camelia Vlad, Marius Ionut Iurascu, et al. · Methods in molecular biology · 18
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema
2023 · Marius‐Ionuţ Iuraşcu, Zsuzsanna Balla, et al. · Clinical and Translational Allergy · 16
Antibody Epitope of Human α‐Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease
2018 · Zdenek Kukacka, Marius Iurascu, et al. · ChemMedChem · 13
An HLA-B27 Homodimer Specific Antibody Recognizes a Discontinuous Mixed-Disulfide Epitope as Identified by Affinity-Mass Spectrometry
2016 · Marius-Ionuţ Iuraşcu, Osiris Marroquin Belaunzanar, et al. · Journal of the American Society for Mass Spectrometry · 11
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis
2025 · Emma N. Somerville, Alva James, et al. · Annals of Neurology · 8
Quantification of glucosylshingosine (lyso-Gb1) for the diagnosis and monitoring of Gaucher disease
2018 · Claudia Cozma, Elizabeth Couchon Couchon, et al. · Molecular Genetics and Metabolism · 1
Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experience
2018 · Claudia Cozma, Marius I. Iurascu, et al. · Molecular Genetics and Metabolism · 1
Biochemical and genetic data in a large, worldwide Fabry cohort
2017 · Tobias Boettcher, Claudia Cozma, et al. · Molecular Genetics and Metabolism · 1
Ganglioside quantification in dried blood spots: A potential biochemical tool to diagnose and monitor metabolic and neurodegenerative diseases
2024 · Steffen Fischer, Marius I. Iurascu, et al. · Molecular Genetics and Metabolism
Hyaline fibromatosis syndrome: Genetic, clinical and biochemical characterization of a large cohort of patients
2020 · Claudia Cozma, Marina Hovakymian, et al. · Molecular Genetics and Metabolism
Two-tier screening approach for the identification of hereditary angioedema type 1 & 2 patients
2020 · Claudia Cozma, Marius I. Iurascu, et al. · Molecular Genetics and Metabolism
Unprecedented insights into an ultra-rare disorder
2019 · rer. nat. Claudia Cozma, Arndt Rolfs, et al.
Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort
2018 · Claudia Cozma, Susanne Zielke, et al. · Molecular Genetics and Metabolism
Biochemical and genetic characteristics of the largest worldwide Fabry cohort reported to present
2018 · Claudia Cozma, Marius I. Iurascu, et al. · Molecular Genetics and Metabolism
Screening for biomarkers of Farber disease using C26 using mass spectrometry
2018 · Arndt Rolfs, Marius Iurascu, et al. · Molecular Genetics and Metabolism
Biochemical and Genetic Data from the Largest Global Fabry Cohort Reported to Present
2017 · Gabriela-Elena Oprea, Sabrina Eichler, et al.
C26-ceramide is a new and sensitive biomarker for Farber disease
2017 · Claudia Cozma, Marius Iurascu, et al. · Molecular Genetics and Metabolism
Epitope Identification of Human A-galactosidase a to a Monoclonal Antibody by Affinity Mass Spectrometry
2016 · Zdeněk Kukačka, Marius‐Ionuţ Iuraşcu, et al. · Florence Research (University of Florence)
Mass spectrometric methods for characterization of protein aggregation and antigen recognition structures
2015 · Marius I. Iurascu · KOPS (University of Konstanz)
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Works count: 26
Citation count: 362
H-index: 10
I10-index: 10
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