المؤلفون: Butenko O; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Jensen SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Fillié-Grijpma YE; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Verpalen R; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Verschuuren JJ; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Huijbers MG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

المصدر: The European journal of neuroscience [Eur J Neurosci] 2024 Jun; Vol. 59 (12), pp. 3292-3308. Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: France NLM ID: 8918110 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-9568 (Electronic) Linking ISSN: 0953816X NLM ISO Abbreviation: Eur J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Muscle, Skeletal*/metabolism , Muscle, Skeletal*/drug effects, Animals ; Mice ; Receptor Protein-Tyrosine Kinases/metabolism ; Humans ; Myasthenia Gravis/metabolism ; Myasthenia Gravis/physiopathology ; Myasthenia Gravis/immunology ; Disease Models, Animal ; Female ; Receptors, Cholinergic/metabolism ; Receptors, Cholinergic/immunology ; Voltage-Gated Sodium Channels/metabolism ; Neuromuscular Junction/metabolism ; Neuromuscular Junction/drug effects ; Autoantibodies ; Male ; Conotoxins/pharmacology ; Immunization, Passive

المؤلفون: Lim JL; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Augustinus R; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Roya-Kouchaki K; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Vergoossen DLE; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Fillié-Grijpma Y; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Struijk J; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Thomas R; Department PDC-Pathologie, Leiden University Medical Center, Leiden, The Netherlands., Salvatori D; Veterinary Faculty, Department Clinical Sciences, Universiteit Utrecht, Utrecht, The Netherlands., Steyaert C; argenx BV, Zwijnaarde, Belgium., Blanchetot C; argenx BV, Zwijnaarde, Belgium., Vanhauwaert R; argenx BV, Zwijnaarde, Belgium., Silence K; argenx BV, Zwijnaarde, Belgium., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands., Verschuuren JJ; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Huijbers MG; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC, Leiden, The Netherlands. m.g.m.huijbers@lumc.nl.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. m.g.m.huijbers@lumc.nl.

المصدر: Scientific reports [Sci Rep] 2023 May 08; Vol. 13 (1), pp. 7478. Date of Electronic Publication: 2023 May 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Receptor Protein-Tyrosine Kinases*/metabolism , Myasthenia Gravis*/metabolism, Male ; Animals ; Mice ; Mice, SCID ; Mice, Inbred C57BL ; Mice, Inbred NOD ; Receptors, Cholinergic/metabolism ; Autoantibodies ; Muscle Weakness ; Acetylcholine

المؤلفون: Plomp JJ; Departments of Neurology. Electronic address: j.j.plomp@lumc.nl., Huijbers MGM; Departments of Neurology; Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Verschuuren JJGM; Departments of Neurology., Borodovsky A; Alnylam Pharmaceuticals, Cambridge, MA, USA.

المصدر: Journal of neuroscience methods [J Neurosci Methods] 2022 May 01; Vol. 373, pp. 109551. Date of Electronic Publication: 2022 Mar 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7905558 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-678X (Electronic) Linking ISSN: 01650270 NLM ISO Abbreviation: J Neurosci Methods Subsets: MEDLINE

مواضيع طبية MeSH: Myasthenia Gravis*/therapy , Receptors, Cholinergic*, Animals ; Autoantibodies ; Biological Assay ; Complement Activation ; Humans ; Mice ; Neuromuscular Junction/pathology ; Rats

المؤلفون: Huijbers MG; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands. Electronic address: m.g.m.huijbers@lumc.nl., Marx A; Institute of Pathology, University Medical Centre Mannheim, Heidelberg University, Mannheim, Germany., Plomp JJ; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands., Le Panse R; INSERM, Institute of Myology, Center of Research in Myology, Sorbonne University, Paris, France., Phillips WD; School of Biomedical Sciences, University of Queensland, Brisbane, QLD, Australia.

المصدر: The Lancet. Neurology [Lancet Neurol] 2022 Feb; Vol. 21 (2), pp. 163-175.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Neuromuscular Junction Diseases*, Humans ; Neuromuscular Junction

المؤلفون: Vergoossen DLE; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Gstöttner C; Center of Proteomics and Metabolomics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Fillié-Grijpma YE; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Augustinus R; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Verpalen R; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Wuhrer M; Center of Proteomics and Metabolomics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Parren PWHI; Department of Immunology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.; Lava Therapeutics, 3584 CM, Utrecht, The Netherlands., Dominguez-Vega E; Center of Proteomics and Metabolomics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Verschuuren JJ; Department of Neurology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands., Huijbers MG; Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands; m.g.m.huijbers@lumc.nl.; Department of Neurology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Mar 30; Vol. 118 (13).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Autoantibodies/*immunology , Immunoglobulin G/*immunology , Myasthenia Gravis/*immunology , Receptor Protein-Tyrosine Kinases/*immunology , Receptors, Cholinergic/*immunology, Animals ; Antibodies, Bispecific/administration & dosage ; Antibodies, Bispecific/genetics ; Antibodies, Bispecific/immunology ; Autoantibodies/administration & dosage ; Autoantibodies/genetics ; Cell Line ; Disease Models, Animal ; Female ; Humans ; Immunoglobulin G/administration & dosage ; Immunoglobulin G/genetics ; Male ; Mice ; Myasthenia Gravis/pathology ; Myoblasts ; Neuromuscular Junction/immunology ; Neuromuscular Junction/pathology ; Phosphorylation/immunology ; Receptor Protein-Tyrosine Kinases/metabolism ; Recombinant Proteins/administration & dosage ; Recombinant Proteins/genetics ; Recombinant Proteins/immunology

المؤلفون: Verhaart IEC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Cappellari O; Department of Comparative Biomedical Sciences, Neuromuscular Diseases Group, Royal Veterinary College, London, United Kingdom.; Current address: Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', Bari, Italy., Tanganyika-de Winter CL; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands., Nnorom S; Department of Comparative Biomedical Sciences, Neuromuscular Diseases Group, Royal Veterinary College, London, United Kingdom.; Current address: Cancer Clinical Trials Unit, University College London Hospital, United Kingdom., Wells KE; Department of Comparative Biomedical Sciences, Neuromuscular Diseases Group, Royal Veterinary College, London, United Kingdom., Hildyard JCW; Department of Comparative Biomedical Sciences, Neuromuscular Diseases Group, Royal Veterinary College, London, United Kingdom.; Current address: Department of Clinical Science and Services, Comparative Neuromuscular Diseases, Royal Veterinary College, London, United Kingdom., Bull D; Duchenne UK, Unit G20, Charecroft Way, Hammersmith, United Kingdom., Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Wells DJ; Department of Comparative Biomedical Sciences, Neuromuscular Diseases Group, Royal Veterinary College, London, United Kingdom.

المصدر: Journal of neuromuscular diseases [J Neuromuscul Dis] 2021; Vol. 8 (5), pp. 845-863.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Dystrophy, Animal/*physiopathology , Muscular Dystrophy, Duchenne/*physiopathology , Simvastatin/*pharmacology, Animals ; Disease Models, Animal ; Fibrosis/physiopathology ; Mice ; Mice, Inbred mdx ; Muscle, Skeletal/drug effects

المؤلفون: Verhaart IEC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Putker K; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., van de Vijver D; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Tanganyika-de Winter CL; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Pasteuning-Vuhman S; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands., Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Putten M; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

المصدر: PloS one [PLoS One] 2019 Aug 20; Vol. 14 (8), pp. e0220665. Date of Electronic Publication: 2019 Aug 20 (Print Publication: 2019).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Muscle, Skeletal/*pathology , Sarcoglycanopathies/*pathology, Aging ; Animals ; Disease Models, Animal ; Gene Deletion ; Gene Expression Regulation ; Male ; Mice ; Mice, Inbred C57BL ; MicroRNAs/genetics ; Muscle, Skeletal/metabolism ; Sarcoglycanopathies/genetics ; Sarcoglycans/genetics

المؤلفون: van Putten M; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Putker K; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Overzier M; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Adamzek WA; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Pasteuning-Vuhman S; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Plomp JJ; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands., Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Jul; Vol. 33 (7), pp. 8110-8124. Date of Electronic Publication: 2019 Apr 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Dystrophy, Animal*/genetics , Muscular Dystrophy, Animal*/metabolism , Muscular Dystrophy, Animal*/pathology , Muscular Dystrophy, Animal*/physiopathology , Muscular Dystrophy, Duchenne*/genetics , Muscular Dystrophy, Duchenne*/metabolism , Muscular Dystrophy, Duchenne*/pathology , Muscular Dystrophy, Duchenne*/physiopathology, Animals ; Disease Models, Animal ; Female ; Male ; Mice ; Mice, Inbred mdx

المؤلفون: Huijbers MG; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands. Electronic address: M.G.M.Huijbers@lumc.nl., Plomp JJ; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands., van Es IE; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Fillié-Grijpma YE; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Kamar-Al Majidi S; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Ulrichts P; argenx BVBA, Industriepark Zwijnaarde 7, 9052, Zwijnaarde, Gent, Belgium., de Haard H; argenx BVBA, Industriepark Zwijnaarde 7, 9052, Zwijnaarde, Gent, Belgium., Hofman E; argenx BVBA, Industriepark Zwijnaarde 7, 9052, Zwijnaarde, Gent, Belgium., van der Maarel SM; Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Verschuuren JJ; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.

المصدر: Experimental neurology [Exp Neurol] 2019 Jul; Vol. 317, pp. 133-143. Date of Electronic Publication: 2019 Mar 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Muscle Weakness/*drug therapy , Muscle Weakness/*genetics , Myasthenia Gravis, Autoimmune, Experimental/*drug therapy , Myasthenia Gravis, Autoimmune, Experimental/*genetics , Receptor Protein-Tyrosine Kinases/*genetics, Action Potentials ; Animals ; Electromyography ; Humans ; Immunoglobulin Fc Fragments/metabolism ; Immunoglobulin G/blood ; In Vitro Techniques ; Mice ; Mice, Inbred NOD ; Mice, SCID ; Motor Endplate/drug effects ; Muscle Contraction ; Muscle Weakness/etiology ; Myasthenia Gravis, Autoimmune, Experimental/complications ; Receptors, Fc/antagonists & inhibitors

المؤلفون: Nyns ECA; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Poelma RH; Department of Microelectronics, Delft University of Technology, 2628 CD, Delft, Netherlands., Volkers L; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Plomp JJ; Department of Neurology and Neurophysiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Bart CI; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Kip AM; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., van Brakel TJ; Department of Cardiothoracic Surgery, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Zeppenfeld K; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Schalij MJ; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Zhang GQ; Department of Microelectronics, Delft University of Technology, 2628 CD, Delft, Netherlands., de Vries AAF; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands., Pijnappels DA; Laboratory of Experimental Cardiology, Department of Cardiology, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands. d.a.pijnappels@lumc.nl.

المصدر: Science translational medicine [Sci Transl Med] 2019 Feb 27; Vol. 11 (481).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Atrial Fibrillation/*physiopathology , Atrial Fibrillation/*therapy , Heart Rate/*physiology , Sinoatrial Node/*physiopathology, Animals ; Arrhythmia, Sinus/pathology ; Automation ; Electronics, Medical ; Female ; Genetic Vectors/metabolism ; Optogenetics ; Rats, Wistar