المؤلفون: Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: genetic diagnostics, variant of unknown significance, spinocerebellar ataxia, gene panel, functional studies, protein modeling, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.782685/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/e0ce2a4a56bf4a8db0790dfc9826b968Test

المؤلفون: Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek

المساهمون: MUMC+: DA KG Polikliniek (6), KNO, MUMC+: MA Keel Neus Oorheelkunde (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Molecular Neuroscience and Ageing Research (MOLAR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Movement Disorder (MD)

المصدر: Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG

مصطلحات موضوعية: Adult, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cerebellar Ataxia, CANVAS, Peripheral Nervous System Diseases, Optical genome mapping, Adult-onset ataxia, Repeat expansion, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], RFC1, Neurology, Prevalence, Humans, Ataxia, Neurology (clinical), COMMON-CAUSE, Retrospective Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb2b2d8a088911455915fbe776cc272Test
https://hdl.handle.net/2066/287463Test

المؤلفون: Anneke J. van der Kooi, Benno Küsters, Catharina G. Faber, Corien C. Verschuuren-Bemelmans, Corrie E. Erasmus, Nicol C. Voermans, Baziel G.M. van Engelen, Erik-Jan Kamsteeg, Heinz Jungbluth, Floor A. M. Duijkers, Bregje Jaeger, Meyke Schouten, Stacha F. I. Reumers, Karlijn Bouman, Maartje Pennings

المساهمون: Pediatric surgery, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), Human Genetics, Neurology, ANS - Neuroinfection & -inflammation, Paediatric Neurology, EURO-NMD

المصدر: Clinical Genetics, 100(6), 692-702. Wiley
Clinical Genetics, 100, 6, pp. 692-702
Clinical Genetics, 100(6), 692-702. Wiley-Blackwell
Clinical genetics, 100(6), 692-702. Wiley-Blackwell
Clinical Genetics, 100, 692-702
Reumers, S F I, Erasmus, C E, Bouman, K, Pennings, M, Schouten, M, Kusters, B, Duijkers, F A M, van der Kooi, A, Jaeger, B, Verschuuren-Bemelmans, C C, Faber, C G, van Engelen, B G, Kamsteeg, E J, Jungbluth, H & Voermans, N C 2021, ' Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands ', Clinical Genetics, vol. 100, no. 6, pp. 692-702 . https://doi.org/10.1111/cge.14054Test

مصطلحات موضوعية: Male, Pathology, BIN1, Biopsy, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], centronuclear myopathy, Genes, X-Linked, RYR1, Medicine, Age of Onset, Child, Genetics (clinical), Netherlands, Aged, 80 and over, medicine.diagnostic_test, Histocytochemistry, CONGENITAL MYOPATHIES, Incidence, cohort, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, Phenotype, Child, Preschool, Female, medicine.symptom, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, MTM1, Adolescent, Genotype, MYOTONIC-DYSTROPHY, DISORDERS, MYOTUBULAR MYOPATHY, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], DYNAMIN 2, Exercise intolerance, FREQUENCY, Young Adult, Genetics, Humans, Genetic Predisposition to Disease, Centronuclear myopathy, Alleles, Genetic Association Studies, Aged, Muscle biopsy, business.industry, Genetic heterogeneity, MUTATIONS, Infant, Newborn, Infant, Muscle weakness, DNM2, medicine.disease, Congenital myopathy, Cross-Sectional Studies, Amino Acid Substitution, Mutation, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad81111a93fe40576ceea6d3ddf3370fTest
https://hdl.handle.net/2066/241356Test

المؤلفون: Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, genetic diagnostics, variant of unknown significance, spinocerebellar ataxia, gene panel, functional studies, protein modeling, segregation

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Feasibility_of_Follow-Up_Studies_and_Reclassification_in_Spinocerebellar_Ataxia_Gene_Variants_of_Unknown_Significance_PDF/19417448Test

الإتاحة: https://doi.org/10.3389/fgene.2022.782685.s001Test
https://figshare.com/articles/dataset/DataSheet1_Feasibility_of_Follow-Up_Studies_and_Reclassification_in_Spinocerebellar_Ataxia_Gene_Variants_of_Unknown_Significance_PDF/19417448Test

المؤلفون: N.M. Maurits, Roelineke J. Lunsing, Corien C. Verschuuren-Bemelmans, R. Brandsma, T. F. Lawerman, OF Brouwer, Hubertus P. H. Kremer, Deborah A Sival, O. Martinez-Manzanera

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR), Movement Disorder (MD), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE)

المصدر: Developmental Medicine and Child Neurology
Developmental Medicine and Child Neurology, 62(1), 75-82. Blackwell Publishing Ltd

مصطلحات موضوعية: Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Cerebellar Ataxia, CHILDREN, Central hypotonia, Motor behaviour, CLASSIFICATION, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Medicine, Humans, Age of Onset, Child, business.industry, Original Articles, Phenotype, Hypotonia, SIGNS, Motor Skills Disorders, Homogeneous, RATING-SCALES, Child, Preschool, Pediatrics, Perinatology and Child Health, RELIABILITY, Muscle Hypotonia, Female, Original Article, Neurology (clinical), medicine.symptom, 0305 other medical science, business, Early onset ataxia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bdaa6618fe7e26c19be8401fd051250Test
http://europepmc.org/articles/PMC6916203Test

المؤلفون: null Stacha F. I. Reumers, null Corrie E. Erasmus, null Karlijn Bouman, null Maartje Pennings, null Meyke Schouten, null Benno Kusters, null Floor A. M. Duijkers, null Anneke Kooi, null Bregje Jaeger, null Corien C. Verschuuren‐Bemelmans, null Catharina G. Faber, null Baziel G. Engelen, null Erik‐Jan Kamsteeg, null Heinz Jungbluth, null Nicol C. Voermans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7678e0e8240418075edf3b22b59a9d8Test
https://doi.org/10.1111/cge.14054/v3/response1Test

المؤلفون: Anna Duarri, Esther A R Nibbeling, Michiel R Fokkens, Michel Meijer, Melissa Boerrigter, Corien C Verschuuren-Bemelmans, Berry P H Kremer, Bart P van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J Sinke, Dineke S Verbeek

المصدر: PLoS ONE, Vol 10, Iss 3, p e0116599 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4355074?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/b2f8101955e14ba6b38e6893d817ef18Test

المؤلفون: Victoria Biancavilla, A. Reghan Foley, Carsten G. Bönnemann, Maha S. Zaki, Rita Horvath, Sandra Donkervoort, Joseph G. Gleeson, Tobias B. Haack, Matthew Nalls, Chunyu Cai, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Lucia Laugwitz, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Erik-Jan Kamsteeg, Susan T. Iannaccone, Grace McMacken, Annemarie Fock, Nicol C. Voermans, Payam Mohassel, Veronka Horber, Hanns Lochmüller, Henry Houlden, Tanya J. Lehky, Molly Snyder, Riley M. McCarty, Minal S. Jain

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Am J Med Genet A
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283

مصطلحات موضوعية: Male, 0301 basic medicine, 030105 genetics & heredity, Synaptic Transmission, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Synaptotagmin II, Missense mutation, SYNAPTOTAGMIN-I, Child, Genetics (clinical), Muscle Weakness, neuromuscular junction, Congenital myasthenic syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, Pedigree, 3. Good health, Synaptic vesicle exocytosis, Phenotype, medicine.anatomical_structure, SYT2, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, medicine.medical_specialty, Weakness, Adolescent, Mutation, Missense, synaptotagmins, Article, Neuromuscular junction, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, NEUROTRANSMITTER RELEASE, MESSENGER-RNAS, Loss function, Myasthenic Syndromes, Congenital, MUTATIONS, Synaptic vesicle membrane, business.industry, medicine.disease, GENE, 030104 developmental biology, Endocrinology, congenital myasthenic syndrome, presynaptic CMS, business

وصف الملف: application/pdf; application/octet-stream; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9a905427015a1435a6bd473ac4d8e4Test
https://doi.org/10.1002/ajmg.a.61765Test

المؤلفون: Raymund A.C. Roos, Mayke Oosterloo, Meyke Schouten, Emilia K. Bijlsma, Corien C. Verschuuren-Bemelmans, Christine E. M. de Die-Smulders

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

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 28(9), 1205-1209. NATURE PUBLISHING GROUP
European Journal of Human Genetics, 28(9), 1205-1209. Nature Publishing Group

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, MEDLINE, Physical examination, Neurological examination, Disease, Article, 03 medical and health sciences, Patient satisfaction, Huntington's disease, mental disorders, Genetics, medicine, Humans, Genetic Testing, PREMANIFEST, Predictive testing, Genetics (clinical), Genetic testing, Aged, Neurologic Examination, 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Middle Aged, CARRIERS, medicine.disease, nervous system diseases, Huntington Disease, Patient Satisfaction, Family medicine, TRACK-HD, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::397d3d6e73fe614bfe899177bcac8407Test
https://pubmed.ncbi.nlm.nih.gov/32404886Test

المؤلفون: Cecilia Compton, Mary O'Driscoll, Sian Jenkins, Rhona MacLeod, Angus John Clarke, Nayana Lahiri, Oliver W. Quarrell, Hannah Musgrave, Alan Fryer, Patrick J. Morrison, Martine J. van Belzen, Christine E. M. de Die-Smulders, Zosia Miedzybrodzka, Corien C. Verschuuren-Bemelmans, Mark Strong, Emilia K. Bijlsma, Sascha Vermeer

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, ONSET CONDITIONS, Local authority, Disease, 030105 genetics & heredity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, children, ADOLESCENTS, Humans, Medicine, Genetic Testing, Predictive testing, Genetics (clinical), Netherlands, Pregnancy, teenagers, business.industry, CAG, STATEMENT, medicine.disease, United Kingdom, genetic tests, Minors, Psychiatry and Mental health, Huntington Disease, Family medicine, Female, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f13fed57bc71a95a917ed4566365998Test
https://doi.org/10.1002/ajmg.b.32582Test