المؤلفون: Matas Nasvytis, Julija Čiauškaitė, Giedrė Jurkevičienė

المصدر: Medicina, Vol 60, Iss 4, p 589 (2024)

مصطلحات موضوعية: GNB1, GNB1 encephalopathy, hereditary encephalopathy, hereditary neurodevelopmental delay, hereditary dystonia, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1648-9144/60/4/589Test; https://doaj.org/toc/1010-660XTest; https://doaj.org/toc/1648-9144Test

الوصول الحر: https://doaj.org/article/11a48b0472c54e158698bad054c78b2fTest

المؤلفون: Belykh, N. A., Akhkyamova, M. A., Gusev, V. V., Lvova, O. A., Белых, Н. А., Ахкямова, М. А., Гусев, В. В., Львова, О. А.

مصطلحات موضوعية: DOPA-RESPONSIVE DYSTONIA, SEGAWA SYNDROME, HEREDITARY DYSTONIA, ДОФА-ЗАВИСИМАЯ ДИСТОНИЯ, СИНДРОМ СЕГАВЫ, НАСЛЕДСТВЕННАЯ ДИСТОНИЯ

وصف الملف: application/pdf

العلاقة: Scopus; Клинический случай ДОФА-зависимой дистонии у молодой женщины / Н. А. Белых, М. А. Ахкямова, В. В. Гусев, О. А. Львова // Вестник РГМУ. - 2020. - №3. - C.45-48.; http://elib.usma.ru/handle/usma/7160Test

الإتاحة: http://elib.usma.ru/handle/usma/7160Test

المؤلفون: Belykh, N. A., Akhkyamova, M. A., Gusev, V. V., Lvova, O. A.

المصدر: Bulletin of Russian State Medical University

مصطلحات موضوعية: DOPA-RESPONSIVE DYSTONIA, HEREDITARY DYSTONIA, SEGAWA SYNDROME, BACLOFEN, CARBIDOPA, CHOLINESTERASE INHIBITOR, DOPAMINE, LEVODOPA, LIVER PROTECTIVE AGENT, MULTIVITAMIN, PARAFFIN, TIZANIDINE, VASODILATOR AGENT, ADULT, ARM WEAKNESS, ARTICLE, BRAIN ATROPHY, CASE REPORT, CLINICAL ARTICLE, CLINICAL FEATURE, CUBITAL TUNNEL SYNDROME, DISABILITY, DOPA RESPONSIVE DYSTONIA, DRUG WITHDRAWAL, ELECTRONEUROGRAPHY, ENCEPHALOPOLYRADICULONEUROPATHY, EXERCISE, FEMALE, FOOT, GAIT DISORDER

وصف الملف: application/pdf

العلاقة: A case report of dopa-responsive dystonia in a young woman / N. A. Belykh, M. A. Akhkyamova, V. V. Gusev, O. A. Lvova. — DOI 10.24075/brsmu.2020.031 // Bulletin of Russian State Medical University. — 2020. — Vol. 3. — P. 45-48.; https://vestnikrgmu.ru/files/issues/vestnik.rsmu.press/2020/3/2020-3-8_en.pdf?lang=enTest; e2b2197f-0d1b-491f-aa5f-e779fffdacd5; http://www.scopus.com/inward/record.url?partnerID=8YFLogxK&scp=85089958258Test; http://elar.urfu.ru/handle/10995/90227Test; 85089958258; 000549104300008

الإتاحة: https://doi.org/10.24075/brsmu.2020.031Test
http://elar.urfu.ru/handle/10995/90227Test
https://vestnikrgmu.ru/files/issues/vestnik.rsmu.press/2020/3/2020-3-8_en.pdf?lang=enTest
http://www.scopus.com/inward/record.url?partnerID=8YFLogxK&scp=85089958258Test

المؤلفون: M. A. Akhkyamova, V. Gusev, Olga Lvova, N. A. Belykh

المصدر: Bulletin of Russian State Medical University

مصطلحات موضوعية: Dopa-Responsive Dystonia, CARBIDOPA, MUSCLE FATIGUE, PATHOGENESIS, POLYMERASE CHAIN REACTION, HEREDITARY DYSTONIA, CLINICAL FEATURE, DOPAMINE, 0302 clinical medicine, Medicine, BRAIN ATROPHY, MUSCLE SPASM, 030212 general & internal medicine, LIVER PROTECTIVE AGENT, ARM WEAKNESS, HUMAN, TIZANIDINE, WALKING DIFFICULTY, General Medicine, VASODILATOR AGENT, FEMALE, SEGAWA SYNDROME, ELECTRONEUROGRAPHY, TORSION DYSTONIA, CUBITAL TUNNEL SYNDROME, GAIT DISORDER, MASSAGE, POLYRADICULONEUROPATHY, Hereditary Dystonia, GENETIC SCREENING, RADICULOPATHY, SINGLE NUCLEOTIDE POLYMORPHISM, medicine.medical_specialty, LEG MUSCLE, FOOT, CASE REPORT, NEUROIMAGING, CLINICAL ARTICLE, EXERCISE, HETEROZYGOTE, NUCLEAR MAGNETIC RESONANCE IMAGING, 03 medical and health sciences, ADULT, Internal medicine, GENE MUTATION, ARTICLE, GCHI GENE, INTERVERTEBRAL DISK DEGENERATION, OSTEOPHYTE, business.industry, LEVODOPA, DISABILITY, ENCEPHALOPOLYRADICULONEUROPATHY, CHOLINESTERASE INHIBITOR, PARAFFIN, PARAPLEGIA, DOPA-RESPONSIVE DYSTONIA, DRUG WITHDRAWAL, LIMB WEAKNESS, BACLOFEN, nervous system diseases, MULTIVITAMIN, Endocrinology, business, DOPA RESPONSIVE DYSTONIA, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcdc3417e3e10207e13b25ff514a908eTest
https://doi.org/10.24075/brsmu.2020.031Test

المؤلفون: G. Kuhlenbäumer, F. Hopfner

المصدر: Der Nervenarzt. 89:416-422

مصطلحات موضوعية: 0301 basic medicine, Gynecology, medicine.medical_specialty, Essential tremor, business.industry, General Medicine, medicine.disease, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Hereditary ataxia, Neurology, medicine, Neurology (clinical), Hereditary Dystonia, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0becc81d5d5de0eba895d59803cc4dfcTest
https://doi.org/10.1007/s00115-017-0478-9Test

المؤلفون: Michael H. Pourfar

المصدر: Current Clinical Neurology ISBN: 9783319978963

مصطلحات موضوعية: Dystonia, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Deep brain stimulation, business.industry, medicine.medical_treatment, medicine.disease, nervous system diseases, Physical medicine and rehabilitation, otorhinolaryngologic diseases, Medicine, Tardive Dystonia, Management principles, Hereditary Dystonia, business, Secondary Dystonia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11ba30f09fb639d3bedc858b513a8874Test
https://doi.org/10.1007/978-3-319-97897-0_53Test

المؤلفون: Eero Pekkonen, Filip Scheperjans, Rebekka M. Ortiz, Tuomas Mertsalmi

المساهمون: Neurologian yksikkö, Department of Neurosciences, Clinicum, University of Helsinki, HUS Medical Imaging Center, HUS Neurocenter

المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 11, p e0207729 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Topography, Etiology, lcsh:Medicine, Pathology and Laboratory Medicine, 3124 Neurology and psychiatry, Geographical locations, 0302 clinical medicine, Epidemiology, Health care, Medicine and Health Sciences, Prevalence, EPIDEMIOLOGY, Public and Occupational Health, Cervical dystonia, Registries, Age of Onset, lcsh:Science, Finland, Dystonia, Islands, Multidisciplinary, High prevalence, Movement Disorders, FOCAL DYSTONIA, Neurodegenerative Diseases, PREFECTURE, Focal dystonia, Middle Aged, 3. Good health, Europe, Neurology, Female, Hereditary Dystonia, Research Article, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, Genetics, Humans, European Union, Landforms, business.industry, lcsh:R, Biology and Life Sciences, Human Genetics, Geomorphology, medicine.disease, nervous system diseases, 030104 developmental biology, Age Groups, SEGMENTAL DYSTONIA, Earth Sciences, lcsh:Q, Population Groupings, People and places, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00996de2a858861a9b9945f48907882cTest
http://europepmc.org/articles/PMC6245745Test

المؤلفون: Carlos Henrique Ferreira Camargo, Hélio A.G. Teive, Sarah Camargos, Francisco Cardoso

المصدر: Arquivos de Neuro-Psiquiatria, Vol 73, Iss 4, Pp 350-358 (2015)
Arquivos de Neuro-Psiquiatria, Volume: 73, Issue: 4, Pages: 350-358, Published: APR 2015
Arquivos de Neuro-Psiquiatria v.73 n.4 2015
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

مصطلحات موضوعية: Adult, Male, Myoclonus, Adolescent, distonia, lcsh:RC321-571, Parkinsonian Disorders, Chorea, distúrbios do movimento, otorhinolaryngologic diseases, Humans, genetics, Age of Onset, Child, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, genética, nervous system diseases, Dystonia, classification, Neurology, Dystonic Disorders, Mutation, movement disorders, Female, dystonia, Neurology (clinical), Hereditary Dystonia, Psychology, classificação, Neuroscience

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d1d21f7fe9f6e9c14727ed7df5973fTest
https://doi.org/10.1590/0004-282x20150030Test

المؤلفون: Fremont, Rachel, Tewari, Ambika, Angueyra, Chantal, Khodakhah, Kamran

المصدر: eLife, Vol 6 (2017)
eLife

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Mouse, cerebellum, QH301-705.5, Science, Dystonia Musculorum Deformans, DYT1, Disease, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Basal ganglia, otorhinolaryngologic diseases, medicine, Animals, Biology (General), Dystonia, Mutation, General Immunology and Microbiology, General Neuroscience, Repetitive movements, General Medicine, Anatomy, medicine.disease, Abnormal movements, nervous system diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Gene Knockdown Techniques, basal ganglia, Medicine, dystonia, Hereditary Dystonia, Neuroscience, 030217 neurology & neurosurgery, Research Article, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb753d6638d4779e26ca47ec97f0ae35Test
https://doi.org/10.7554/elife.22775Test

المؤلفون: Kamran Khodakhah, Rachel Fremont, Ambika Tewari, Chantal Angueyra

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, Cerebellum, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, business.industry, Medicine, Hereditary Dystonia, business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::178a453e47cc80308fb98a81eabe2e7cTest
https://doi.org/10.7554/elife.22775.016Test