المؤلفون: Maurice Sopacua, Carla M.L. Gorissen-Brouwers, Bianca T.A. de Greef, Isis B.T. Joosten, Catharina G. Faber, Ingemar S.J. Merkies, Janneke G.J. Hoeijmakers

المصدر: Clinical Neurophysiology Practice, Vol 7, Iss , Pp 115-119 (2022)

مصطلحات موضوعية: 5-point scale, Digit wrinkle scan, Small fiber neuropathy, Autonomic function, Digit vasoconstriction, Inter-observer reliability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2467981X22000166Test; https://doaj.org/toc/2467-981XTest

الوصول الحر: https://doaj.org/article/19bc50ebc46544029cbcae873b0fddefTest

المؤلفون: Isis B.T. Joosten, Cas J. Fuchs, Milou Beelen, Guy Plasqui, Luc J.C. van Loon, Catharina G. Faber

المصدر: Journal of Neuromuscular Diseases. :1-12

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7bc9874c94a9a4f358ee7803c5c659dfTest
https://doi.org/10.3233/jnd-230036Test

المؤلفون: Isis B.T. Joosten, Corinne G. C. Horlings, Bettine A. H. Vosse, Anouk Wagner, David S. H. Bovenkerk, Reinder Evertz, Kevin Vernooy, Baziel G. M. van Engelen, Catharina G. Faber

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), Pulmonologie, MUMC+: MA Med Staf Spec Longziekten (9), MUMC+: MA Cardiologie (3), Cardiologie, RS: Carim - H06 Electro mechanics, RS: Carim - H01 Clinical atrial fibrillation

المصدر: Muscle and Nerve, 67, 2, pp. 130-137
Muscle and Nerve, 67, 130-137
Muscle & Nerve, 67, 130-137. Wiley

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Phenotype, All institutes and research themes of the Radboud University Medical Center, Cardiomyopathy, Physiology, Physiology (medical), Myotonic dystrophy, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Conduction delay, Muscle weakness, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Noninvasive ventilation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8307ac4d5d866f83d763ca3f41f407Test
https://pubmed.ncbi.nlm.nih.gov/36484161Test

المؤلفون: Baziel G.M. van Engelen, Catharina G. Faber, Kees Okkersen, Isis B.T. Joosten

المصدر: Cassidy and Allanson's Management of Genetic Syndromes. :611-627

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, business, medicine.disease, Myotonic dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::217b397c43293e37e69b8f1d3496bf0aTest
https://doi.org/10.1002/9781119432692.ch39Test

المؤلفون: Isis B.T. Joosten, Debby M.E.I. Hellebrekers, Catharina G. Faber, Monique M. Gerrits, Christine E. M. de Die-Smulders, Bianca T. A. de Greef, Hubert J.M. Smeets

المساهمون: Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R3 - Neuroscience, MUMC+: KIO Kemta (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio, Klinische Genetica, MUMC+: DA KG Polikliniek (9), MUMC+: MA Med Staf Spec Neurologie (9)

المصدر: Eur J Hum Genet
European Journal of Human Genetics, 28(7), 956-962. Nature Publishing Group

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Offspring, Genetic counseling, Biology, HUNTINGTON-DISEASE, CTG REPEAT, Asymptomatic, Myotonic dystrophy, Article, 03 medical and health sciences, CAG REPEAT, PATERNAL TRANSMISSION, Genetics, medicine, Humans, Myotonic Dystrophy, HETEROGENEITY, Allele, ANTICIPATION, Child, Genetics (clinical), 0303 health sciences, ORIGIN, 030305 genetics & heredity, Chromosome, EXPANSION, medicine.disease, SIZE, PRACTICE GUIDELINES, Cohort, Paternal Inheritance, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Chromosomes, Human, Pair 19

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede2f1263d2e5fcb4ccb5ad0d522013bTest
https://doi.org/10.1038/s41431-020-0601-4Test

المؤلفون: Kevin Vernooy, Bianca T. A. de Greef, Romy van Lohuizen, Catharina G. Faber, Isis B.T. Joosten, Baziel G.M. van Engelen, Reinder Evertz, Dennis W. den Uijl

المساهمون: Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Neurologie (9), RS: Carim - H06 Electro mechanics, RS: Carim - H01 Clinical atrial fibrillation

المصدر: Europace, 23, 298-304
EP Europace, 23(2), 298-304. Oxford University Press
Europace
Europace, 23, 2, pp. 298-304

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Myotonic dystrophy, Logistic regression, CTG REPEAT, Ventricular Function, Left, DISEASE, Electrocardiography, QRS complex, AGE, Clinical Research, Physiology (medical), Internal medicine, Humans, Medicine, AcademicSubjects/MED00200, cardiovascular diseases, PR interval, Atrioventricular Block, TERM-FOLLOW-UP, Retrospective Studies, ARRHYTHMIAS, Ejection fraction, business.industry, ABNORMALITIES, DEATH, Stroke Volume, Odds ratio, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Confidence interval, Electrocardiogram, Electrophysiology, Cardiology, Cardiology and Cardiovascular Medicine, business, Electrocardiology and Risk Stratification

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc71bc3b66a640e5165304da637f9ecTest
http://hdl.handle.net/2066/233805Test

المؤلفون: H.J.M. Smeets, C.E.M. de Die-Smulders, B. de Greef, Debby M.E.I. Hellebrekers, C. G. Faber, Isis B.T. Joosten, Monique M. Gerrits

المصدر: Neuromuscular Disorders. 29:S51

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, medicine.disease, Myotonic dystrophy, Instability, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb180f6925b6affcae2b76ecd9cd6eb3Test
https://doi.org/10.1016/j.nmd.2019.06.064Test

المؤلفون: Janneke G. J. Hoeijmakers, Isis B.T. Joosten

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Promovendi MHN, MUMC+: MA Med Staf Spec Neurologie (9), Klinische Neurowetenschappen

المصدر: Neurology, 90(9), E814-E814. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: Adult, Male, Benign condition, medicine.medical_specialty, Superior oblique myokymia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Brain mri, Diplopia, Medicine, Humans, business.industry, Trochlear Nerve Diseases, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Carbamazepine, 030221 ophthalmology & optometry, Cardiology, Anticonvulsants, Neurology (clinical), Eyelid, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3879ab98174c588fc8107c8353526eedTest
https://cris.maastrichtuniversity.nl/en/publications/3ae261da-9a0c-4090-8565-684b84c314ebTest