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المؤلفون: Claudia Stendel, Matias Wagner, Thomas Klopstock, G. Rudolph
المصدر: Neuropediatrics 50(06), 382-386 (2019). doi:10.1055/s-0039-1693150
مصطلحات موضوعية: 0301 basic medicine, Male, Muscle Hypotonia, 030105 genetics & heredity, 0302 clinical medicine, Cerebellum, Intellectual disability, pathology [Cerebellum], Medicine, Missense mutation, Inositol 1,4,5-Trisphosphate Receptors, Aniridia, Genetics, genetics [Cerebellar Ataxia], General Medicine, Pedigree, genetics [Aniridia], medicine.symptom, physiopathology [Cerebellar Ataxia], physiopathology [Cerebellum], Cerebellar Ataxia, genetics [Inositol 1,4,5-Trisphosphate Receptors], physiopathology [Intellectual Disability], genetics [Mutation, Missense], Mutation, Missense, Glutamic Acid, genetics [Mutation], 03 medical and health sciences, etiology [Gait Disorders, Neurologic], Atrophy, Intellectual Disability, Humans, ddc:610, Gene, Gait Disorders, Neurologic, Cerebellar ataxia, business.industry, metabolism [Glutamic Acid], Infant, medicine.disease, physiopathology [Aniridia], Pediatrics, Perinatology and Child Health, Mutation, Cerebellar vermis, Gait Ataxia, Neurology (clinical), genetics [Intellectual Disability], business, 030217 neurology & neurosurgery
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المؤلفون: Peter Bauer, Holger Hengel, Werner Deigendesch, Ludger Schöls, Yvonne Schelling, Reinhard Keimer
المصدر: European journal of medical genetics 62(11), 103582 (2019). doi:10.1016/j.ejmg.2018.11.016
مصطلحات موضوعية: 0301 basic medicine, Male, physiopathology [Intellectual Disability], Genetic counseling, genetics [Mutation, Missense], genetics [Epilepsy], Mutation, Missense, Genetic Counseling, 030105 genetics & heredity, Biology, physiopathology [Epilepsy], Whole Exome Sequencing, MK-STYX protein, human, 03 medical and health sciences, Epilepsy, Likely benign, ddc:570, Intellectual Disability, Intellectual disability, Exome Sequencing, Genetics, medicine, genetics [Exome], Missense mutation, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, Problem Behavior, General Medicine, medicine.disease, standards [Genetic Counseling], Pedigree, genetics [Apoptosis Regulatory Proteins], 030104 developmental biology, Female, genetics [Intellectual Disability], Apoptosis Regulatory Proteins
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المؤلفون: Ina Schmitt, Oliver Brüstle, Rajech Sharkia, Kristina Rehbach, Stefan Herms, Jennifer Reichbauer, Feifei Tao, Peter De Jonghe, Susanne Greschus, Garth A. Nicholson, Alfredo Ramirez, Stefanie Heilmann-Heimbach, Ludger Schöls, Michael E. Shy, Thomas Klockgether, Paolo Carloni, Holger Wagner, Dagmar Timmann, Claudia Stendel, Delia Kurzwelly, Marina L. Kennerson, Matthis Synofzik, Patrick F. Chinnery, Wolfgang Maier, Stephan Züchner, Peter Bauer, Angela Pyle, Tim W. Rattay, Michael Peitz, Katrin Amunts, Burcu Atasu, Rüdiger Stirnberg, Holger Hengel, Jonathan Baets, Shawna M. E. Feely, Jürgen Kohlhase, Holger Thiele, M. Lennarz, Janine Altmüller, Ilker Karaca, Katherine D. Mathews, Muhammad Mahanjah, Tobias Lindig, Johanna Jung, Alejandro Giorgetti, Rebecca Schüle, Ebba Lohmann, Marc Sturm, Michael Wolf, Rita Horvath, Thomas Klopstock, Michael A. Gonzalez, Martina Minnerop, Peter Nürnberg, Anne S. Soehn, Sandra Roeske
المصدر: Brain
Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095مصطلحات موضوعية: 0301 basic medicine, Gerontology, Male, leukodystrophy, POLR3A, cerebellar ataxia, hereditary spastic paraplegia, spastic ataxia, Medizin, Cell Culture Techniques, genetics [Introns], physiopathology [Spinocerebellar Ataxias], POLR3A protein, human, genetics [Muscle Spasticity], Compound heterozygosity, genetics [Optic Atrophy], 0302 clinical medicine, diagnostic imaging [Intellectual Disability], Spastic, genetics [Spinocerebellar Ataxias], Exome sequencing, Genetics, diagnostic imaging [Spastic Paraplegia, Hereditary], genetics [Exons], Middle Aged, Pedigree, Phenotype, Female, medicine.symptom, physiopathology [Optic Atrophy], Ataxia, diagnostic imaging [Optic Atrophy], diagnostic imaging [Spinocerebellar Ataxias], Hereditary spastic paraplegia, physiopathology [Intellectual Disability], Induced Pluripotent Stem Cells, Neurogenetics, Biology, 03 medical and health sciences, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, genetics [RNA Polymerase III], ddc:610, Genetic Association Studies, Aged, Cerebellar ataxia, physiopathology [Muscle Spasticity], Leukodystrophy, diagnostic imaging [Muscle Spasticity], RNA Polymerase III, modeling, Original Articles, medicine.disease, 030104 developmental biology, Mutation, Neurology (clinical), Human medicine, genetics [Intellectual Disability], 030217 neurology & neurosurgery
وصف الملف: pdf
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المؤلفون: Ingo Helbig, Julia Hentschel, Wendy Alcaraz, Julian Schubert, Ulrike B. S. Hedrich, Leena Vainionpää, Sarah L. Dugan, Anne-Christin Teichmann, Katherine L. Helbig, Ludger Schöls, Rebecca Schüle, Holger Lerche, Robert Huether, Ilona Krey, Johannes R. Lemke, Sha Tang, Kathrin N. Karle, Matthis Synofzik, Chelsy Jungbluth, Anna-Elina Lehesjoki, Adam C. Chamberlin, Deepali N. Shinde, Hsiao-Mei Lu
المساهمون: Neuroscience Center, Research Programs Unit, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology
المصدر: Annals of neurology 80(4), 638-642 (2016). doi:10.1002/ana.24762
Annals of Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, Proband, Mutant, Xenopus, SHAKER K+ CHANNEL, 3124 Neurology and psychiatry, Xenopus laevis, 0302 clinical medicine, KCNA2 protein, human, Kv1.2 Potassium Channel, Exome, Child, Exome sequencing, Genetics, biology, MOLECULAR-MECHANISMS, genetics [Ataxia], Middle Aged, Pedigree, 3. Good health, Neurology, Mutation (genetic algorithm), KV1.2, Female, medicine.symptom, Brief Communications, Adult, Ataxia, GENETICS, DISORDERS, physiopathology [Intellectual Disability], Hereditary spastic paraplegia, genetics [Kv1.2 Potassium Channel], Brief Communication, physiopathology [Ataxia], Young Adult, 03 medical and health sciences, VOLTAGE SENSOR, Channelopathy, metabolism [Oocytes], genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Animals, Humans, ddc:610, EPILEPTIC ENCEPHALOPATHY, business.industry, 3112 Neurosciences, SEGMENT, medicine.disease, biology.organism_classification, 030104 developmental biology, CEREBELLAR, Mutation, Neurology (clinical), genetics [Intellectual Disability], business, 030217 neurology & neurosurgery
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المؤلفون: Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns
المساهمون: Human genetics, Pathology, Pediatric surgery, NCA - Brain mechanisms in health and disease
المصدر: Cerebellum, 14(3), 378-81. SPRINGER
Cerebellum, 14(3), 378-381. Springer New York
The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7
Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Ataxia, Neurology, physiopathology [Intellectual Disability], Ubiquitin-Protein Ligases, physiopathology [Spinocerebellar Ataxias], diagnosis [Muscle Spasticity], genetics [Muscle Spasticity], Biology, Compound heterozygosity, Genetic analysis, genetics [Optic Atrophy], Diagnosis, Differential, Intellectual Disability, medicine, Humans, Spinocerebellar Ataxias, diagnosis [Spinocerebellar Ataxias], Family, ddc:610, genetics [Spinocerebellar Ataxias], Gene, STUB1 protein, human, genetics [Ubiquitin-Protein Ligases], STUB1, Genetics, physiopathology [Muscle Spasticity], Genetic heterogeneity, diagnosis [Optic Atrophy], Pedigree, Optic Atrophy, diagnosis [Intellectual Disability], Muscle Spasticity, Mutation, Female, Neurology (clinical), genetics [Intellectual Disability], Spastic ataxia, medicine.symptom, physiopathology [Optic Atrophy]