-
1دورية أكاديميةSMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
المؤلفون: Bulthuis, Elianne P., Adjobo-Hermans, Merel J.W., de Potter, Bastiaan, Hoogstraten, Saskia, Wezendonk, Lisanne H.T., Tutakhel, Omar A.Z., Wintjes, Liesbeth T., van den Heuvel, Bert, Willems, Peter H.G.M., Kamsteeg, Erik Jan, Rubio Gozalbo, M.E., Sallevelt, Suzanne C.E.H., Koudijs, Suzanne M., Nicolai, Joost, de Bie, Charlotte I., Hoogendijk, Jessica E., Koopman, Werner J.H., Rodenburg, Richard J.
المصدر: Biochimica et Biophysica Acta - Molecular Basis of Disease 1869 (2023) 8 ; ISSN: 0925-4439
مصطلحات موضوعية: Calcium, EMRE, MCU, Mitochondria, Muscle involvement, SMDT1
وصف الملف: application/pdf
العلاقة: https://edepot.wur.nl/636605Test; https://research.wur.nl/en/publications/smdt1-variants-impair-emre-mediated-mitochondrial-calcium-uptakeTest-
الإتاحة: https://doi.org/10.1016/j.bbadis.2023.166808Test
https://research.wur.nl/en/publications/smdt1-variants-impair-emre-mediated-mitochondrial-calcium-uptakeTest- -
2دورية أكاديمية
المؤلفون: Weterman, Marian A.J., Bronk, Marieke, Jongejan, Aldo, Hoogendijk, Jessica E., Krudde, Judith, Karjosukarso, Dyah, Goebel, Hans H., Aronica, Eleonora, Jöbsis, G. Joost, van Ruissen, Fred, van Spaendonck-Zwarts, Karin Y., de Visser, Marianne, Baas, Frank
المصدر: Neuromuscular Disorders ; volume 33, issue 1, page 58-64 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2022.11.007Test
https://api.elsevier.com/content/article/PII:S096089662200709X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S096089662200709X?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Ruijters, Veerle J., Van Der Meulen, Marjon F.G., Van Es, Michael A., Smit, Tessa, Hoogendijk, Jessica E.
المساهمون: MS Radiologie, Neurologen, Brain, Neuromuscular Disorders
مصطلحات موضوعية: COVID-19, COVID-19 vaccine Pfizer-BioNTech, Rhabdomyolysis, Clinical Neurology
وصف الملف: application/pdf
-
4دورية أكاديمية
المؤلفون: Demaegd, Koen, Brilstra, Eva H, Hoogendijk, Jessica E, de Bie, Charlotte I, de Pagter, Mirjam S, van Hecke, Wim, Mühlebner, Angelika, van Es, Michael A, Milone, Margherita, van Rheenen, Wouter
المساهمون: Opleiding Neurologie, Genetica Klinische Genetica, Brain, Neurologen, Child Health, Genetica Sectie Genoomdiagnostiek, Pathologie Pathologen staf, Cancer, Neuromuscular Disorders
مصطلحات موضوعية: Humans, Intracellular Signaling Peptides and Proteins, Leg, Muscle, Skeletal/diagnostic imaging, Muscular Atrophy, Spinal/genetics, Pedigree, Protein Serine-Threonine Kinases, Distal weakness calf weakness distal spinal muscular atrophy vaccinia-related kinase 1 (VRK1) gene, Clinical Neurology, Neurology, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Case Reports, Review
وصف الملف: application/pdf
-
5دورية أكاديمية
المؤلفون: Lim, Johan, Eftimov, Filip, Verhamme, Camiel, Brusse, Esther, Hoogendijk, Jessica E., Saris, Christiaan G.J., Raaphorst, Joost, De Haan, Rob J., Van Schaik, Ivo N., Aronica, Eleonora, De Visser, Marianne, Van Der Kooi, Anneke J.
المصدر: Lim , J , Eftimov , F , Verhamme , C , Brusse , E , Hoogendijk , J E , Saris , C G J , Raaphorst , J , De Haan , R J , Van Schaik , I N , Aronica , E , De Visser , M & Van Der Kooi , A J 2021 , ' Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies : A pilot study ' , Rheumatology (Bulgaria) , vol. 60 , no. 4 , pp. 1784-1792 . https://doi.org/10.1093/rheumatology/keaa459Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/rheumatology/keaa459Test
https://pure.eur.nl/en/publications/f23bf0ff-493f-4fe2-bb05-d234367d2ac2Test
https://pure.eur.nl/ws/files/53335453/Intravenous_immunoglobulins_as_first_line_treatment_in_idiopathic_inflammatory_myopathies.pdfTest
http://www.scopus.com/inward/record.url?scp=85104047173&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Min, Minoesch, Walter, Anne W, Lim, Johan, Eftimov, Filip, Verhamme, Camiel, de Visser, Marianne, van Schaik, Ivo N, Aggarwal, Rohit, de Haan, Rob J, van der Kooi, Anneke J, Raaphorst, Joost, Saris, Christiaan G J, Brusse, Esther, Hoogendijk, Jessica E
المساهمون: CSL Behring
المصدر: Rheumatology ; volume 61, issue 8, page 3420-3426 ; ISSN 1462-0324 1462-0332
مصطلحات موضوعية: Pharmacology (medical), Rheumatology
الإتاحة: https://doi.org/10.1093/rheumatology/keab906Test
https://academic.oup.com/rheumatology/article-pdf/61/8/3420/45226982/keab906.pdfTest -
7دورية أكاديمية
المؤلفون: Lim, Johan, Eftimov, Filip, Verhamme, Camiel, Brusse, Esther, Hoogendijk, Jessica E, Saris, Christiaan G J, Raaphorst, Joost, De Haan, Rob J, van Schaik, Ivo N, Aronica, Eleonora, de Visser, Marianne, van der Kooi, Anneke J
المساهمون: Interlaken Leadership Award, CSL Behring kindly, IVIg
المصدر: Rheumatology ; volume 60, issue 4, page 1784-1792 ; ISSN 1462-0324 1462-0332
مصطلحات موضوعية: Pharmacology (medical), Rheumatology
الإتاحة: https://doi.org/10.1093/rheumatology/keaa459Test
http://academic.oup.com/rheumatology/article-pdf/60/4/1784/36913619/keaa459.pdfTest -
8دورية أكاديمية
المؤلفون: Wienke, Judith, Mertens, Jorre S, Garcia, Samuel, Lim, Johan, Wijngaarde, Camiel A, Yeo, Joo Guan, Meyer, Alain, van den Hoogen, Lucas L, Tekstra, Janneke, Hoogendijk, Jessica E, Otten, Henny G, Fritsch-Stork, Ruth D E, de Jager, Wilco, Seyger, Marieke M B, Thurlings, Rogier M, de Jong, Elke M G J, van der Kooi, Anneke J, van der Pol, W Ludo, Arkachaisri, Thaschawee, Radstake, Timothy R D J, van Royen-Kerkhof, Annet, van Wijk, Femke
المصدر: Rheumatology ; volume 60, issue 2, page 785-801 ; ISSN 1462-0324 1462-0332
مصطلحات موضوعية: Pharmacology (medical), Rheumatology
الإتاحة: https://doi.org/10.1093/rheumatology/keaa270Test
http://academic.oup.com/rheumatology/article-pdf/60/2/785/36167813/keaa270.pdfTest -
9دورية أكاديمية
المؤلفون: Wienke, Judith, Bellutti Enders, Felicitas, Lim, Johan, Mertens, Jorre S., van den Hoogen, Luuk L., Wijngaarde, Camiel A., Yeo, Joo Guan, Meyer, Alain, Otten, Henny G., Fritsch-Stork, Ruth D.E., Kamphuis, Sylvia S.M., Hoppenreijs, Esther P.A.H., Armbrust, Wineke, van den Berg, J. Merlijn, Hissink Muller, Petra C.E., Tekstra, Janneke, Hoogendijk, Jessica E., Deakin, Claire T., de Jager, Wilco, van Roon, Joël A.G., van der Pol, W. Ludo, Nistala, Kiran, Pilkington, Clarissa, de Visser, Marianne, Arkachaisri, Thaschawee, Radstake, Timothy R.D.J., van der Kooi, Anneke J., Nierkens, Stefan, Wedderburn, Lucy R., van Royen-Kerkhof, Annet, van Wijk, Femke
المساهمون: UMC Utrecht, CTI Van Wijk, Translationele immunologie, Infection & Immunity, Opleiding Neurologie, Brain, CDL Patiëntenzorg MI, CDL Celdiagnostiek, MS Reumatologie/Immunologie/Infectie, ZL Neuromusculaire Ziekten Medisch, CTI, CTI Radstake, CTI Research, CTI Nierkens, CTI UDAIR, Immuno/reuma patientenzorg, Child Health, Immuno/reuma onderzoek 4
مصطلحات موضوعية: Immunology and Allergy, Rheumatology, Immunology, Journal Article
وصف الملف: image/pdf
-
10دورية أكاديمية
المؤلفون: ten Dam, Leroy, Frankhuizen, Wendy S., Linssen, Wim H. J. P., Straathof, Chiara S., Niks, Erik H., Faber, Karin, Fock, Annemarie, Kuks, Jan B., Brusse, Esther, de Coo, Rene, Voermans, Nicol, Verrips, Aad, Hoogendijk, Jessica E., van Der Pol, Ludo, Westra, Dineke, de Visser, Marianne, van der Kooi, Anneke J., Ginjaar, Ieke
المصدر: ten Dam , L , Frankhuizen , W S , Linssen , W H J P , Straathof , C S , Niks , E H , Faber , K , Fock , A , Kuks , J B , Brusse , E , de Coo , R , Voermans , N , Verrips , A , Hoogendijk , J E , van Der Pol , L , Westra , D , de Visser , M , van der Kooi , A J & Ginjaar , I 2019 , ' Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the ....
مصطلحات موضوعية: limb-girdle muscular dystrophy, Miyoshi muscular dystrophy, neurology, neuromuscular disorders, ANOCTAMIN 5, DUTCH PATIENTS, FOLLOW-UP, PREVALENCE, MUTATIONS, DIAGNOSIS, COHORT, GUIDELINE, PHENOTYPE, FREQUENCY
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1111/cge.13544Test
https://cris.maastrichtuniversity.nl/en/publications/9864c16d-489e-4ae3-a6a0-fd5f8a4c918eTest
https://cris.maastrichtuniversity.nl/ws/files/77657742/Faber_2019_Autosomal_recessive_limb_girdle_and_Miyoshi.pdfTest