نتائج البحث

1

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

المؤلفون: W. H. J. P. Linssen, Ludo van der Pol, Nicol C. Voermans, René de Coo, Annemarie Fock, Ieke B. Ginjaar, Jessica E. Hoogendijk, Marianne de Visser, Karin G. Faber, Jan B. M. Kuks, Aad Verrips, Anneke J. van der Kooi, Erik H. Niks, Esther Brusse, Dineke Westra, Leroy ten Dam, Chiara S. M. Straathof, W. S. Frankhuizen

المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Neurology, Graduate School, ANS - Neuroinfection & -inflammation, AII - Infectious diseases

المصدر: Clinical Genetics, 96, 126-133
Clinical Genetics, 96(2), 126-133. Wiley
Clinical Genetics, 96, 2, pp. 126-133
Clinical Genetics, 96(2), 126-133. Wiley-Blackwell Publishing Ltd
Clinical genetics, 96(2), 126-133. Wiley-Blackwell
Clinical Genetics, 96(2), 126-133

مصطلحات موضوعية: Male, 0301 basic medicine, Biopsy, neuromuscular disorders, 030105 genetics & heredity, PHENOTYPE, Muscular dystrophy, Genetics (clinical), Netherlands, limb-girdle muscular dystrophy, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], PREVALENCE, Population Surveillance, GUIDELINE, Female, Miyoshi muscular dystrophy, ANOCTAMIN 5, medicine.symptom, medicine.medical_specialty, DUTCH PATIENTS, DIAGNOSIS, FREQUENCY, Asymptomatic, 03 medical and health sciences, SGCG, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, COHORT, Multiplex ligation-dependent probe amplification, Alleles, Genetic Association Studies, Retrospective Studies, SGCA, MUTATIONS, business.industry, neurology, medicine.disease, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Sarcoglycanopathy, Muscular Dystrophies, Limb-Girdle, Age of onset, FOLLOW-UP, business, Biomarkers, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88c33d642921b9cb1b50567c5c9f669Test
https://pure.eur.nl/en/publications/fea36a87-4c8c-4bf4-81c3-b0b74f15b70aTest

2

Decision-making and selection bias in four observational studies on Duchenne and Becker muscular dystrophy

المؤلفون: Ruben G.F. Hendriksen, Chiara S. M. Straathof, N. Doorenweerd, Karin J. Naarding, Erik H. Niks, Kinita A. Chotkan, Imelda J. M. de Groot, Hermien E. Kan, Yvonne D. Krom, Zaïda Koeks

المصدر: Journal of Neuromuscular Diseases, 7(4), 433-442. IOS Press
Journal of Neuromuscular Diseases, 7, 4, pp. 433-442
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 7, 433-442

مصطلحات موضوعية: Research Report, Duchenne muscular dystrophy, Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, media_common.quotation_subject, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Protocol design, medicine, magnetic resonance imaging, Humans, selection bias, Longitudinal Studies, Muscular dystrophy, Child, Retrospective Studies, media_common, Refusal to Participate, Selection bias, medicine.diagnostic_test, business.industry, Patient Selection, Magnetic resonance imaging, Cognition, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], becker muscular dystrophy, Muscular Dystrophy, Duchenne, Natural history, Observational Studies as Topic, Cross-Sectional Studies, 030104 developmental biology, Neurology, Physical therapy, observational study, Observational study, Neurology (clinical), Patient Participation, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f60671a3f391d2b60faa3338fd8fe46Test
http://hdl.handle.net/1887/3245883Test

3

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

المؤلفون: Janneke C. van den Bergen, Jan G. Post, Jan J.G.M. Verschuuren, Anneke J. van der Kooi, Dave van Heusden, H.B. Ginjaar, Marianne de Visser, Esther Brusse, Nicol C. Voermans, Pieternella F. Ippel, Chiara S. M. Straathof

المصدر: Muscle & Nerve. 53:44-48

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7845e291e9ff7be8f2c0877ed076bc7cTest
https://doi.org/10.1002/mus.24691Test

4

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

المؤلفون: Ulrike Schara, Diana Castro, T. Gidaro, S. Lutz, Ksenija Gorni, Janbernd Kirschner, Antonella Taglia, V. Doppler, F. Knipp, Christian Rummey, Jan J.G.M. Verschuuren, Thomas Meier, Gihan Tennekoon, J.J. Vílchez Padilla, E. Falcier, Luisa Politano, Craig M. McDonald, Chiara S. M. Straathof, S. Borell, S. Coopman, Matthew J. Will, Pierre-Yves Jeannet, Nathalie Goemans, Paolo Spagnolo, Jean-Marie Cuisset, Carsten G. Bönnemann, R.C. Richardson, G. Bernert, Thomas Sejersen, N. Muelas Gómez, Maria Grazia D'Angelo, Erika Brighina, Thomas Voit, S. Gandossini, Mika Leinonen, Susan T. Iannaccone, Oscar H. Mayer, Gunnar M. Buyse, Clemens Bloetzer, M. van den Hauwe, Susan D. Apkon, Richard S. Finkel, G. Buyse, P. D’Ambrosio, Erik K Henricson, Nanette C. Joyce, M. Hovmöller

المساهمون: Van den Hauwe, M, Meier, Thoma, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., Buyse, Gunnar M., Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J. -. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., VÃlchez Padilla, J. J., Muelas GÃ³mez, N., Sejersen, T., Hovmã¶ller, M., Jeannet, P. -. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bã¶nnemann, C., Mcdonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R. C.

المصدر: Europe PubMed Central
Neuromuscular Disorders, 27(4), 307-314

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, Vital capacity, Adolescent, peak expiratory flow, Respiratory Tract Diseases, Medizin, Clinical Neurology, Pulmonary insufficiency, Placebo group, Pediatrics, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, forced vital capacity, Internal medicine, medicine, Humans, In patient, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Old patients, business.industry, pulmonary function, respiratory system, Perinatology and Child Health, medicine.disease, Duchenne, Cross-Sectional Studies, Muscular Dystrophy, Duchenne, Respiratory Function Tests, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Surgery, respiratory tract diseases, 030228 respiratory system, Cardiology, business, 030217 neurology & neurosurgery, circulatory and respiratory physiology

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21864040305a8729c1e8de925e0e87cTest
http://hdl.handle.net/11577/3276306Test

5

دورية أكاديمية

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

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, René, Voermans, Nicol, Verrips, Aad, Hoogendijk, Jessica E., van der Pol, Ludo, Westra, Dineke, de Visser, Marianne, van der Kooi, Anneke J., Ginjaar, Ieke

المصدر: Clinical Genetics; Aug2019, Vol. 96 Issue 2, p126-133, 8p, 1 Diagram, 2 Charts

مصطلحات موضوعية: LIMB-girdle muscular dystrophy, MOLECULAR spectra, RECESSIVE genes, FACIOSCAPULOHUMERAL muscular dystrophy, MUSCULAR dystrophy

مصطلحات جغرافية: NETHERLANDS

6

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy

المؤلفون: Annemieke Aartsma-Rus, Jan J.G.M. Verschuuren, B.H.A. Wokke, A. J. van der Kooi, S M Schade van Westrum, Chiara S. M. Straathof, M. de Visser, Margriet Hulsker, H.B. Ginjaar, Luuk Dekker, J.C. van den Bergen

المساهمون: Graduate School, Public and occupational health, Amsterdam Neuroscience, Neurology

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, 85(1), 92-98
Journal of neurology, neurosurgery, and psychiatry, 85(1), 92-98. BMJ Publishing Group

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, musculoskeletal diseases, Cardiac function curve, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neuromuscular disease, Adolescent, Biopsy, Blotting, Western, DNA Mutational Analysis, Cohort Studies, Electrocardiography, Young Adult, Internal medicine, Databases, Genetic, medicine, Humans, In patient, Muscular dystrophy, Child, Muscle, Skeletal, Netherlands, biology, business.industry, Heart, Dilated cardiomyopathy, Exons, Genetic Therapy, Middle Aged, medicine.disease, Immunohistochemistry, Survival Analysis, Exon skipping, Surgery, Muscular Dystrophy, Duchenne, Psychiatry and Mental health, Wheelchairs, Echocardiography, Mutation (genetic algorithm), biology.protein, Educational Status, Female, Neurology (clinical), Dystrophin, business, Gene Deletion