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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Cansu de Muijnck, Lonneke Haer‐Wigman, Judith A.M. van Everdingen, Tanya Lushchyk, Pam A T Heutinck, Marieke F. van Dooren, +11 more
7citations -
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy2024 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Andrea Gangfuß, Philipp Rating, Tomás Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, +10 more
6citations -
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A2024 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J. F. Boon
1citations -
No Evidence of Varicella-Zoster Virus Infection in Temporal Artery Biopsies of Anterior Ischemic Optic Neuropathy Patients With and Without Giant Cell Arteritis2020 The Journal of Infectious Diseases article Medicine Vasculitis and related conditions Open access
Robert M. Verdijk, Werner J. D. Ouwendijk, Robert W. A. M. Kuijpers, Georges M. G. M. Verjans
16citations -
Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Enrico Borrelli, Francesco Maria Bandello, Camiel J. F. Boon, Valério Carelli, Guy Lenaers, Michele Reibaldi, +5 more
23citations -
Targeted decompression to address long-standing anatomical distortion in a case of extensive, bilateral en plaque meningiomas: illustrative case2025 Journal of Neurosurgery Case Lessons article Medicine Meningioma and schwannoma management Open access
Stefanie Bauer, Karina Hofmann, Miriam Weiss, Christian Musahl, Lukas Andereggen, Gerrit Alexander Schubert
0citations -
ACO2 clinicobiological dataset with extensive phenotype ontology annotation2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati‐Bonneau, Majida Charif, Estelle Colin, Céline Bris, +9 more
8citations -
Recombinant Adeno-Associated Viral Vectors (rAAV)-Vector Elements in Ocular Gene Therapy Clinical Trials and Transgene Expression and Bioactivity Assays101citations
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Ocular sequelae of snakebite envenoming: a review of the indirect effects of snakebite envenoming on the eye2023 Toxin Reviews article Biochemistry, Genetics and Molecular Biology Venomous Animal Envenomation and Studies Open access
Maarten B. Jalink, Jory van Thiel, Roel M. Wouters, Freek J. Vonk, Robert P. L. Wisse
1citations -
CD4+ T-Cell Responses Mediate Progressive Neurodegeneration in Experimental Ischemic Retinopathy2020 American Journal Of Pathology article Medicine Glaucoma and retinal disorders Open access cited by 1 patent
T. H. Khanh Vu, Huihui Chen, Li Pan, Kin‐Sang Cho, Djoeke Doesburg, Eric F. Thee, +4 more
34citations -
PCR42 Humanistic Burden of Paroxysmal Nocturnal Hemoglobinuria from the Patient Perspective: Results from a Cross-Sectional Study2023 Value in Health conference-abstract Economics, Econometrics and Finance Health Systems, Economic Evaluations, Quality of Life Open access
Jens Panse, A. Wiyani, Josefin Snellman, L. Earl, Maria‐Magdalena Balp
0citations -
monarch-initiative/mondo: v2026-10-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations -
monarch-initiative/mondo: v2026-05-052026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations