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739543

Funded outputs count: 47
Funder award ID: 739543
OpenAlex ID: G3147077950
Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development
2026 · Mihaela Bobić, Goran Sedmak, et al. · JIMD Reports
Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X‐Linked Retinoschisis: The AXIS Trial
2026 · Jonathan Hensman, Hind Almushattat, et al. · Clinical and Experimental Ophthalmology · 2
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Muscle Regeneration Failure May Lead to Clinical Features of Myopathy in Anti-IgLON5 Disease
2026 · Yvette S. Crijnen, Verena Endmayr, et al. · Neurology Neuroimmunology & Neuroinflammation · 1
CRB1 ‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up
2026 · Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, et al. · Clinical and Experimental Ophthalmology
AAV-mediated gene replacement therapy for LRAT-associated retinitis pigmentosa: a proof-of-concept study in a patient-based rat model
2026 · A. M. El-Kalaani, J. B. Ten Brink, et al. · Gene Therapy
Eyes shut homolog (EYS): Connecting molecule to disease
2025 · João Pedro Marques, Inês Santos Sousa, et al. · Progress in Retinal and Eye Research · 5
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers
2025 · Nuno Gouveia, Jessica S. Karuntu, et al. · Ophthalmology Science · 4
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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
2025 · Sivasankar Malaichamy, Romane Idoux, et al. · Brain · 6
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Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect?
2024 · Roberta Romano, Francesca Cillo, et al. · Life · 1
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Relationship between the full‐field stimulus test and self‐reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3
2024 · J. S. Karuntu, S. B. A. E. Tulp, et al. · Acta Ophthalmologica · 6
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MicroRNA dysregulation in ataxia telangiectasia
2024 · Emilia Cirillo, Antonietta Tarallo, et al. · Frontiers in Immunology · 5
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Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies
2024 · Leo C. Hahn, Isa van der Veen, et al. · Ophthalmology Retina · 6
SIRT1 Serum Concentrations in Lipodystrophic Syndromes
2024 · Luisa Salvatori, Giovanni Ceccarini, et al. · International Journal of Molecular Sciences · 2
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
2024 · Emma Coppola, Mayla Sgrulletti, et al. · Journal of Clinical Immunology · 2
Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study
2023 · Silvia Magno, Giovanni Ceccarini, et al. · The Journal of Clinical Endocrinology & Metabolism · 16
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Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
2023 · Sara Geada, Francisco Teixeira-Marques, et al. · Genes
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Homozygous DBF4 mutation as a cause of severe congenital neutropenia
2023 · Mathijs Willemsen, John S. Barber, et al. · Journal of Allergy and Clinical Immunology · 10
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Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa
2022 · Xuan-Thanh-An Nguyen, Alberta A.H.J. Thiadens, et al. · American Journal of Ophthalmology · 30
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Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism
2022 · Flora Magnotti, Daria Chirita, et al. · Cell Reports · 38
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Abstracts
2022 · Nguyen, Xuan-Thanh-An, Thiadens, Alberta A. H. J, et al. · Acta Ophthalmologica · 3
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Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
2022 · András N. Spaan, Anna-Lena Neehus, et al. · Science · 72
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Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency
2022 · Mathilde Yverneau, Stéphanie Leroux, et al. · Journal of Inherited Metabolic Disease · 20
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Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
2022 · G. Ceccarini, D. Gilio, et al. · Journal of Endocrinological Investigation · 2
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One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN
2022 · Laura Paneghetti, Cinzia Maria Bellettato, et al. · Orphanet Journal of Rare Diseases · 10
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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective
2021 · Xuan-Thanh-An Nguyen, Hind Almushattat, et al. · Genes · 17
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