المؤلفون: Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung

المصدر: Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)

مصطلحات موضوعية: dravet syndrome, epileptic encephalopathy, FGF‐21, fibroblast growth factor 21, mitochondrial oxidative phosphorylation, valproate, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/ade30fff07e044ef82b2ff57c48f25fe

المؤلفون: Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: LAMA2, Laminin subunit α2 deficiency, Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), SELENON, SEPN1, Natural history, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

المؤلفون: Kim F. E. van de Loo, José A. E. Custers, Saskia Koene, Inge-Lot Klein, Mirian C. H. Janssen, Jan A. M. Smeitink, Christianne M. Verhaak

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Mitochondrial diseases, Psychology, Quality of life, Behavioral problems, Parenting stress, Diagnostic process, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1342-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/f4b30aa16e6a41bb8597d4e8ed9e6614

المؤلفون: José A. E. Custers, Paul de Laat, Saskia Koene, Jan Smeitink, Mirian C. H. Janssen, Christianne Verhaak

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Mitochondrial disease, M.3243A > G mutation, Fear of progression, Quality of life, Mental health, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0951-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/b513567736b945ca9fa2502e245994fb

المؤلفون: Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)

مصطلحات موضوعية: Randomized controlled trial, Mitochondrial medicine, Clinical trial phase 1, Mitochondrial disorder, Orphan drugs, Rare disease, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0715-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/09fd79f686f64b96977b623d3acbd830

المؤلفون: Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen, Jan Smeitink

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Gait, Mitochondrial disease, m.3243A > G, MELAS, Trial, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0644-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/51d2ff557ede4308a6b24e8aa61c0f1a

المؤلفون: Werner JH Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J Rodenburg, Peter HGM Willems, Jan AM Smeitink

المصدر: EMBO Molecular Medicine, Vol 8, Iss 4, Pp 311-327 (2016)

مصطلحات موضوعية: children, clinical trial, drug development, mitochondria, outcome measures, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/ffccdcbae0794df5bbe1c999a2b6c1f3

المؤلفون: Marieke Lindenschot, Imelda J. M. de Groot, Saskia Koene, Ton Satink, Esther M. J. Steultjens, Maria W. G. Nijhuis-van der Sanden

المصدر: Occupational Therapy International, Vol 2018 (2018)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0966-7903; https://doaj.org/toc/1557-0703

URL الوصول: https://doaj.org/article/7b1ac1e44176426e8b275c1edf6a34b3

المؤلفون: Rob Ramakers, Saskia Koene, Jan T. Groothuis, Paul de Laat, Mirian C. H. Janssen, Jan Smeitink

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-2 (2017)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0688-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9aa56516d5134f9f8ab17290802f6a7f

المؤلفون: Marieke Lindenschot (ORCID 0000-0001-6150-7567), Esther M. J. Steultjens (ORCID 0000-0002-4638-4375), Jana Zajec (ORCID 0000-0001-5007-6087), Maria W. G. Nijhuis-van der Sanden (ORCID 0000-0003-2637-6877), Saskia Koene (ORCID 0000-0002-9876-744X), Imelda J. M. de Groot (ORCID 0000-0003-1634-1427)

المصدر: Journal of Developmental and Physical Disabilities. 2020 32(3):509-534.

Peer Reviewed: Y

Page Count: 26

Descriptors: Children, Childrens Attitudes, Genetic Disorders, Activities, Personal Autonomy, Competence, Participation, Preferences

المؤلفون: Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664

مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms232213664

الاتاحة: https://doi.org/10.3390/ijms232213664

المؤلفون: Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology

المصدر: European Journal of Human Genetics, 31(4), 461-468. Nature Publishing Group
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd3051ef1e64c7bdec49a7621be4891
https://doi.org/10.1038/s41431-023-01307-x

المؤلفون: Esther Steultjens, Marieke Lindenschot, Sanne Diepeveen, Jana Zajec, Imelda de Groot, Ria Nijhuis‐van der Sanden, Saskia Koene, Maud Graff

المصدر: Australian Occupational Therapy Journal, 70, 175-189
Australian Occupational Therapy Journal, 1-15
STARTPAGE=1;ENDPAGE=15;ISSN=0045-0766;TITLE=Australian Occupational Therapy Journal
Australian Occupational Therapy Journal, 70, 2, pp. 175-189

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Occupational Therapy, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef57b7d98ea28c6bbacba3f0c44a5a61
https://doi.org/10.1111/1440-1630.12842

المؤلفون: Marieke Lindenschot, Imelda J.M.de Groot, Maria W.G. Nijhuis-van der Sanden, Esther M.J. Steultjens, Maud J.L. Graff, Saskia Koene

المصدر: Physical and Occupational Therapy in Pediatrics, 43, 74-92
Physical and Occupational Therapy in Pediatrics, 43, 1, pp. 74-92

مصطلحات موضوعية: Parents, All institutes and research themes of the Radboud University Medical Center, Mitochondrial Diseases, Occupational Therapy, Activities of Daily Living, Rehabilitation, Pediatrics, Perinatology and Child Health, Humans, Physical Therapy, Sports Therapy and Rehabilitation, General Medicine, Child, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac3edf9feac1011dfb3388a13f41c8b
http://hdl.handle.net/2066/291161

المؤلفون: Liselot, van der Laan, Kathleen, Rooney, Mariëlle, Alders, Raissa, Relator, Haley, McConkey, Jennifer, Kerkhof, Michael A, Levy, Peter, Lauffer, Mio, Aerden, Miel, Theunis, Eric, Legius, Matthew L, Tedder, Lisenka E L M, Vissers, Saskia, Koene, Claudia, Ruivenkamp, Mariette J V, Hoffer, Dagmar, Wieczorek, Nuria C, Bramswig, Theresia, Herget, Vanesa López, González, Fernando, Santos-Simarro, Pernille M, Tørring, Anne-Sophie, Denomme-Pichon, Bertrand, Isidor, Boris, Keren, Sophie, Julia, Elise, Schaefer, Christine, Francannet, Pierre-Yves, Maillard, Mala, Misra-Isrie, Hilde, Van Esch, Marcel M A M, Mannens, Bekim, Sadikovic, Mieke M, van Haelst, Peter, Henneman

المصدر: International journal of molecular sciences. 23(22)

مصطلحات موضوعية: Ubiquitin, Ubiquitin-Protein Ligases, Mental Retardation, X-Linked, Humans, Facies, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6ef3c0dd9ac614f48600e3821cce0986
https://pubmed.ncbi.nlm.nih.gov/36430143

المؤلفون: Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

المصدر: Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155

المؤلفون: Jos M. T. Draaisma, Jonne Doorduin, Nicol C. Voermans, Florence H J van Tienen, Hubert J.M. Smeets, Baziel G.M. van Engelen, Jan A.M. Smeitink, Nens van Alfen, Saskia Koene, Benno Küsters, Willem C M van Tilburg, Mirian C. H. Janssen, Floris E A Udink Ten Cate, Corrie E. Erasmus, Robin Nijveldt, Anne T. M. Dittrich, Karlijn Bouman, Frederik M. A. van den Heuvel, Jan T. Groothuis, Stan Buckens, Esmee S.B. Van Kleef, Erik-Jan Kamsteeg

المساهمون: RS: MHeNs - R3 - Neuroscience, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
BMC Neurology, 21
BMC Neurology
BMC Neurology, 21, 1
BMC Neurology, 21(1):313. BioMed Central Ltd

مصطلحات موضوعية: Pediatrics, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Outcome measures, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Muscular Dystrophies, Pulmonary function testing, Study Protocol, Outcome Assessment, Health Care, Laminin subunit α2 deficiency, SEPN1, Prospective Studies, Muscular dystrophy, OXIDATIVE STRESS, Child, ULTRASOUND, SELENOPROTEIN-N, medicine.diagnostic_test, All ages, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, RELIABILITY, Congenital muscular dystrophy, medicine.symptom, Natural history study, SKELETAL-MUSCLE PATHOLOGY, CLINICAL-TRIALS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Trial readiness, QUESTIONNAIRE, Natural history, DUCHENNE DYSTROPHY, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Neurological examination, VALIDATION, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], All institutes and research themes of the Radboud University Medical Center, medicine, Humans, LAMA2, Myopathy, SELENON, RC346-429, Laminin subunit a2 deficiency, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), medicine.disease, Congenital myopathy, REFERENCE VALUES, Clinical trial, Neurology (clinical), Laminin, Neurology. Diseases of the nervous system, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082c4be5cfdce3bc0565bf9172f1431e
https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

المؤلفون: Marieke Lindenschot, Saskia Koene, Melissa T. Nott, Maria W. G. Nijhuis-van der Sanden, Imelda J. M. de Groot, Esther M. J. Steultjens, Maud J. L. Graff

المصدر: Disability and Rehabilitation, 45, 14, pp. 2354-2367
Disability and Rehabilitation, 1-14
STARTPAGE=1;ENDPAGE=14;ISSN=0963-8288;TITLE=Disability and Rehabilitation

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Rehabilitation, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ead2eec4a5a7e0e93158b4468dc5810
https://pubmed.ncbi.nlm.nih.gov/35722883

المؤلفون: Cacha M.P.C.D. Peeters-Scholte, Sylke J. Steggerda, Saskia Koene, Marije Meuwissen, Phebe N. Adama van Scheltema, Gijs W. E. Santen, Linda S. de Vries, Jeroen Knijnenburg

المصدر: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 185(2), 571-574. WILEY
American journal of medical genetics : part A

مصطلحات موضوعية: 0301 basic medicine, Intracerebral hemorrhage, Fetus, Clinical Report, business.industry, COL4A2, Cerebral hemorrhages, 030105 genetics & heredity, medicine.disease, Bioinformatics, Pathogenicity, Clinical Reports, Pathophysiology, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Genetics, antenatal intracerebral hemorrhage, Medicine, Human medicine, Risk factor, business, neonatal intracerbral haemorrhage, Genetics (clinical), Antenatal intracerebral hemorrhage

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6523aefc79dd04ce04d70cff8942689
https://doi.org/10.1002/ajmg.a.61988

المؤلفون: Matthew J. Oberley, Sharon Heath, Robert Wynn, Timothy J. Ley, Marwan Shinawi, Margaret A. Ferris, David H. Spencer, John M. Maris, Melinda Wu, Sofia Douzgou, David R. Freyer, Roel B Fiets, Florence Choo, Eric J. Duncavage, Amanda Smith, Chrstopher A Miller, Saskia Koene, Anne F. Reilly

المصدر: Blood

مصطلحات موضوعية: Oncology, Adult, Male, medicine.medical_specialty, Adolescent, Immunology, Biochemistry, Congenital Abnormalities, DNA Methyltransferase 3A, Young Adult, Internal medicine, Intellectual disability, medicine, Humans, Epigenetics, Young adult, Letter to Blood, Child, Germ-Line Mutation, business.industry, Cell Biology, Hematology, Syndrome, medicine.disease, Phenotype, Natural history, Leukemia, Haematopoiesis, Overgrowth syndrome, Child, Preschool, Hematologic Neoplasms, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0146b5d0d2f2c1ba4e79afce58e2dc
https://europepmc.org/articles/PMC8777205/