Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup.

Autor: Vallbona-Garcia A; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, Netherlands.; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., Lindsey PJ; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., Kamps R; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., Stassen APM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Nguyen N; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., van Tienen FHJ; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., Hamers IHJ; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., Hardij R; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., van Gisbergen MW; Department of Dermatology, Maastricht University Medical Center, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, Netherlands., Benedikter BJ; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., de Coo IFM; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands., Webers CAB; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., Gorgels TGMF; University Eye Clinic Maastricht, Maastricht University Medical Center, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands., Smeets HJM; Department of Toxicogenomics, Maastricht University, Maastricht, Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands.

Publikováno v: Frontiers in ophthalmology [Front Ophthalmol (Lausanne)] 2024 Jan 17; Vol. 3, pp. 1309836. Date of Electronic Publication: 2024 Jan 17 (Print Publication: 2023).

Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.

Autor: Hubens WHG; University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands., Vallbona-Garcia A; University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Maastricht University, Maastricht, the Netherlands. Electronic address: a.vallbonagarcia@maastrichtuniversity.nl., de Coo IFM; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Maastricht University, Maastricht, the Netherlands., van Tienen FHJ; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Maastricht University, Maastricht, the Netherlands., Webers CAB; University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands., Smeets HJM; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands; Department of Toxicogenomics, Maastricht University, Maastricht, the Netherlands., Gorgels TGMF; University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, the Netherlands; Research School of Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands. Electronic address: theo.gorgels@mumc.nl.

Publikováno v: Mitochondrion [Mitochondrion] 2022 Jan; Vol. 62, pp. 187-204. Date of Electronic Publication: 2021 Nov 02.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

Autor: Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Karlijn.bouman@radboudumc.nl.; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands. Karlijn.bouman@radboudumc.nl., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., van Alfen N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Udink Ten Cate FEA; Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands., van den Heuvel FMA; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands., Nijveldt R; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands., van Tilburg WCM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands., Buckens SCFM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands., Dittrich ATM; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands., Draaisma JMT; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands., Janssen MCH; Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Smeitink JAM; Khondrion BV, Nijmegen, The Netherlands., Küsters B; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands., van Tienen FHJ; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands., Smeets HJM; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands.; School for Mental Health and Neurosciences (MHeNS), Maastricht University, Maastricht, the Netherlands.; School for Developmental Biology and Oncology (GROW), Maastricht University, Maastricht, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.

Publikováno v: BMC neurology [BMC Neurol] 2021 Aug 12; Vol. 21 (1), pp. 313. Date of Electronic Publication: 2021 Aug 12.

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

Autor: van Tienen FHJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands. Florence.van.tienen@mumc.nl.; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Florence.van.tienen@mumc.nl., Lindsey PJ; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Kamps MAF; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Krapels IP; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Ramaekers FCS; GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Broers JLV; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; CARIM-School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Mar; Vol. 27 (3), pp. 389-399. Date of Electronic Publication: 2018 Nov 12.