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المؤلفون: Gabor G. Kovacs, Tammaryn Lashley, Sarah A Gagliano Taliun, Zhongbo Chen, Glenda M. Halliday, Ellen Gelpi, Dennis W. Dickson, Matti Haltia, Roisin Sullivan, Henry Houlden, Thomas Bourinaris, Dominic B. Rowe, Arianna Tucci, Ian P. Blair, Stephanie Efthymiou, Wai Yan Yau, Prasanth Sivakumar, John Hardy, Anu Suomalainen, Kristina Ibáñez, Farah Bibi, Michael DeTure, Pentti J. Tienari, Zane Jaunmuktane, David Zhang, Chris Turner, Nicholas W. Wood, Andrew J. Lees, Alkyoni Athanasiou-Fragkouli, Mina Ryten, Nick C. Fox, Keith A. Josephs, Jana Vandrovcova, Tamas Revesz
المساهمون: HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Faculty of Medicine, University of Helsinki, HUSLAB, STEMM - Stem Cells and Metabolism Research Program, Anu Wartiovaara / Principal Investigator, Research Programs Unit, Neuroscience Center, Helsinki Institute of Life Science HiLIFE, Medicum, Department of Pathology
المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, Eosinophilic inclusions, In silico, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, Brief Communication, Genome, 3124 Neurology and psychiatry, 03 medical and health sciences, NEURONAL INTRANUCLEAR INCLUSION DISEASE, REPEAT, 0302 clinical medicine, Medicine, BODY, RC346-429, Genetics, Genetic heterogeneity, business.industry, General Neuroscience, Haplotype, 3112 Neurosciences, 3. Good health, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), Brief Communications, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery, RC321-571
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المؤلفون: Esa R. Korpi, Matti Haltia, Pentti J. Tienari, Dan Lindholm, Pertti Panula
المصدر: The European journal of neuroscienceREFERENCES. 52(5)
مصطلحات موضوعية: Apolipoprotein E, 0303 health sciences, business.industry, General Neuroscience, Multiple sclerosis, Neurosciences, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Nerve growth factor, Tibial Muscular Dystrophy, Neurotrophic factors, medicine, Neuronal ceroid lipofuscinosis, business, Neuroscience, 030217 neurology & neurosurgery, Finland, 030304 developmental biology
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المؤلفون: Sara E. Mole, Angela Schulz, Matti Haltia
المصدر: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease ISBN: 9780128138663
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba12a83f8bad4f8e8cc49aa669ae2a6a
https://doi.org/10.1016/b978-0-12-813866-3.00004-7 -
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المؤلفون: Bekir B. Artukoglu, Robert M. Bachoo, Sergio E. Baranzini, Merrill D. Benson, Kevin Biglan, Iona Blakeney, Michael H. Bloch, Melanie Brady, John F. Brandsema, Aldobrando Broccolini, Robert H. Brown, Bernard Cohen, Jordan J. Cole, Anne M. Comi, John C. Crabbe, Basil T. Darras, Michael M. Dowling, Walter Dunn, Orna Elroy-Stein, Bakri H. Elsheikh, Andrew G. Engel, Stanley Fahn, Liana Fasching, Scott C. Fears, Ryan J. Felling, Rosalie E. Ferner, John K. Fink, Charles F. Gillespie, Alica M. Goldman, Jill Goldman, David H. Gutmann, Matti Haltia, Stephen L. Hauser, James E. Hilbert, Othon Iliopoulos, Monica P. Islam, Aaron K. Jenkins, Xiaoming Jia, Heinz Jungbluth, Saima N. Kayani, Pravin Khemani, Fenella J. Kirkham, A. Yasmine Kirkorian, John T. Kissel, Christine Klein, Kleopas A. Kleopa, Stephen J. Kolb, Eumorphia Konstantakou, Doris Lambracht-Washington, Jessica B. Lennington, David A. Lewis, Wen-Chen Liang, Paven A. Lidstone, Katja Lohmann, Paul J. Lombroso, Elizabeth A. Maher, Frederick Marshall, Meghan McCann, Andrew McGarry, Giovanni Meola, Ana Metelo, Bruce L. Miller, Massimiliano Mirabella, Shuki Mizutani, Sara E. Mole, Richard T. Moxley, Francesco Muntoni, Charles B. Nemeroff, Ichizo Nishino, Jeffrey L. Noebels, Massimo Pandolfo, Jonathan Pevsner, Louis Ptáček, Jeffrey Ralph, William Renthal, Victor I. Reus, E. Steve Roach, Roger N. Rosenberg, Antonia M. Savarese, Russell P. Sawyer, Steven S. Scherer, Raphael Schiffmann, Angela Schulz, Caroline Sewry, Vikram G. Shakkottai, Shunichiro Shinagawa, Pratibha Singh, Jemeen Sreedharan, Jeffrey M. Statland, Steven T. Szabo, Gabor Szuhay, Bjarne Udd, Flora M. Vaccarino, David W. Volk, Kathleen S. Wilson, Weiming Xia, Gang Yu
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fab7772472d311efef0c7c0bfa295e7
https://doi.org/10.1016/b978-0-12-813866-3.00051-5 -
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المؤلفون: Hans H. Goebel, Matti Haltia
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1832(11):1795-1800
مصطلحات موضوعية: Batten disease, History, Disease, Biology, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, medicine, Humans, Neurodegeneration, Molecular Biology, 030304 developmental biology, 0303 health sciences, Retina, History, 19th Century, History, 20th Century, medicine.disease, 3. Good health, Ageing, medicine.anatomical_structure, Nerve cells, Neuronal ceroid-lipofuscinosis, Molecular genetic classification, Molecular Medicine, Neuronal ceroid lipofuscinosis, Identification (biology), Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Matti Haltia, Liisa Eränkö, Kaarina Tervo, Timo Tervo, Antti Vannas
المصدر: Acta Ophthalmologica. 65:37-42
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Conjunctiva, Biology, Pheochromocytoma, 03 medical and health sciences, 0302 clinical medicine, Stroma, medicine, Humans, 0303 health sciences, Immunochemistry, Multiple Endocrine Neoplasia, 030302 biochemistry & molecular biology, Thyroid, Optic Nerve, General Medicine, medicine.disease, Microscopy, Electron, Ophthalmology, medicine.anatomical_structure, Medullary carcinoma, 030221 ophthalmology & optometry, Immunohistochemistry, Perineurium, Multiple endocrine neoplasia type 2b
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المؤلفون: Matti Haltia, H. Majuri, R. Norio, Marjaleena Koskiniemi, Märta Donner
المصدر: Acta Neurologica Scandinavica. 50:307-332
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Pediatrics, medicine.diagnostic_test, Spike-and-wave, Autopsy, General Medicine, Progressive myoclonus epilepsy, Electroencephalography, medicine.disease, 3. Good health, Unverricht–Lundborg disease, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurology, Cerebellar cortex, medicine, Neurology (clinical), medicine.symptom, Psychiatry, Psychology, Myoclonus, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0d1c2b8d4b9f9ba9b7582f43ca298e3f
https://doi.org/10.1111/j.1600-0404.1974.tb02782.x -
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المؤلفون: Matti Haltia, Patrick Sourander, Krister Kristensson
المصدر: Acta Neurologica Scandinavica. 45:63-77
مصطلحات موضوعية: Cerebral Cortex, Myoclonus, Medulla Oblongata, medicine.medical_specialty, business.industry, Brain, General Medicine, Progressive myoclonus epilepsy, medicine.disease, Sciatic Nerve, Basal Ganglia, Unverricht–Lundborg disease, Thalamus, Neurology, Mesencephalon, Cerebellum, Pons, medicine, Humans, Female, Epilepsy, Tonic-Clonic, Neurology (clinical), Child, Psychiatry, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ffa6c8ab5d6f7b3bdfad3a1cb0abafa
https://doi.org/10.1111/j.1600-0404.1969.tb01220.x -
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المؤلفون: Matti Haltia, R. Salonen, M. Somer, R. Norio, M. Lorentz
المصدر: Clinical Genetics. 39:287-293
مصطلحات موضوعية: Male, Microcephaly, Pathology, medicine.medical_specialty, Encephalopathy, Genetic Counseling, Facial Bones, Cerebral edema, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Genetics, medicine, Edema, Humans, PEHO syndrome, Child, Genetics (clinical), 0303 health sciences, business.industry, Skull, 030305 genetics & heredity, Leukoencephalopathy, Progressive Multifocal, Brain, Infant, West Syndrome, Syndrome, medicine.disease, Hypsarrhythmia, Hypotonia, Pedigree, Optic Atrophy, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery
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المؤلفون: Matti Haltia, Sara E. Mole
مصطلحات موضوعية: Retinal degeneration, 0303 health sciences, Pathology, medicine.medical_specialty, Batten disease, business.industry, Neurodegeneration, medicine.disease, Tripeptidyl peptidase I, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, CLN8, medicine, Dementia, Neuronal ceroid lipofuscinosis, medicine.symptom, business, Myoclonus, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d59a7b90b515f9e92dbe81cc36805e02
https://doi.org/10.1016/b978-0-12-410529-4.00070-x
