المؤلفون: Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova

المصدر: Genes, Vol 15, Iss 5, p 615 (2024)

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), the DARS2 gene, white matter disorder, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/5/615; https://doaj.org/toc/2073-4425; https://doaj.org/article/791ab53ca76942cca28e2e429ec99479

الاتاحة: https://doi.org/10.3390/genes15050615
https://doaj.org/article/791ab53ca76942cca28e2e429ec99479

المساهمون: Simonovic, Miljan [Univ. of Illinois, Chicago, IL (United States)]

المصدر: Nucleic Acids Research; 44; 7

وصف الملف: Medium: ED; Size: p. 3420-3431

URL الوصول: http://www.osti.gov/scitech/servlets/purl/1262023

المؤلفون: Klugmann, Matthias, Kalotay, Elizabeth, Delerue, Fabien, Ittner, Lars M., Bongers, Andre, Yu, Josephine, Morris, Margaret J., Housley, Gary D., Fröhlich, Dominik

المصدر: Klugmann , M , Kalotay , E , Delerue , F , Ittner , L M , Bongers , A , Yu , J , Morris , M J , Housley , G D & Fröhlich , D 2022 , ' Developmental delay and late onset HBSL pathology in hypomorphic Dars1 M256L mice ' , Neurochemical Research , vol. 47 , no. 7 , pp. 1972-1984 . https://doi.org/10.1007/s11064-022-03582-4

مصطلحات موضوعية: Aminoacyl-tRNA synthetase, Aspartyl-tRNA synthetase, DARS1, HBSL, Hypomyelination with brainstem and spinal cord involvement and Leg spasticity, Leukodystrophy

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/4365c57d-6f1e-44e1-90c2-f27bd6a1a015
https://doi.org/10.1007/s11064-022-03582-4
https://research-management.mq.edu.au/ws/files/206752302/Publisher_version_open_access_.pdf
http://www.scopus.com/inward/record.url?scp=85127450670&partnerID=8YFLogxK
https://doi.org/10.1007/s11064-022-03602-3
http://www.scopus.com/inward/record.url?scp=85128691994&partnerID=8YFLogxK

المؤلفون: Mansour, Malek, Baradai, Nesrine, Kacem, Amel, Derbali, Hajer, Bedoui, Ines

المصدر: Emerging Neurologist; Vol. 1 No. 1 (2022); 12-15 ; Emerging Neurologist; Vol. 1 No 1 (2022); 12-15 ; 2967-767X

مصطلحات موضوعية: Susac syndrome, retinal artery occlusion, hearing loss, spinal cord involvement, syndrome de Susac, occlusion artérielle rétinienne, perte d’audition, atteinte médullaire

وصف الملف: application/pdf; text/xml

Relation: https://emerging-neurologist.org/article/view/32/41; https://emerging-neurologist.org/article/view/32/42; https://emerging-neurologist.org/article/view/32

الاتاحة: https://emerging-neurologist.org/article/view/32
https://doi.org/10.53480/emerg-neurol.5410

المؤلفون: M. I. Karpova, A. F. Vasilenko, D. G. Korotkova, I. V. Kochetkov, M. V. Shestakova, G. V. Buyanova, Z. Z. Zaripova

المصدر: Нервно-мышечные болезни, Vol 9, Iss 3, Pp 32-39 (2019)

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate, magnetic resonance features, genetic screening algorithm, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/342; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/79057821ff9e41bfa502c1736653336a

المؤلفون: Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, Melinda Procter, Rong Mao, Patricie Burda, Davide Strambo, Thierry Kuntzer, Christel Tran

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: biotinidase deficiency, spinal cord involvement, tetraparesis, newborn screening non-compliance, biotin, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.516799/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c682c7ba584c4e19a08a022148ec304c

المؤلفون: Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

المصدر: Genes; Volume 11; Issue 11; Pages: 1325

مصطلحات موضوعية: leukodystrophy, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, Leigh syndrome, NDUFV1, OxPhos deficiency

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11111325

الاتاحة: https://doi.org/10.3390/genes11111325

المؤلفون: Arunmozhimaran Elavarasi, Rajesh Kumar Singh, Manjari Tripathi, Prashant Bhatele, Deepti Vibha

المصدر: Neurological Sciences. 43:727-730

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, business.industry, Spinal cord involvement, Dermatology, General Medicine, Psychiatry and Mental health, medicine, Primary CNS Vasculitis, Neurology (clinical), Neurosurgery, Presentation (obstetrics), business, Neuroradiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ec9580830a04291ea34958d37e80ee02
https://doi.org/10.1007/s10072-021-05688-z

المؤلفون: F. Bing, S. M’Biene, S. Gay

المصدر: Revue Neurologique. 176:874-877

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Spinal cord involvement, Medicine, Posterior reversible encephalopathy syndrome, Neurology (clinical), Brainstem, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70156477a35b9abd5c5912c8ad919ed8
https://doi.org/10.1016/j.neurol.2020.01.354

المؤلفون: Oguzhan Obuz, Zuhal Yapici, Alp Dinçer, Isil Yazici Gencdal

المصدر: The Neurologist. 25:144-147

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Spastic gait, Mitochondrial Diseases, Ataxia, Adolescent, Long term follow up, Aspartate-tRNA Ligase, Spinal cord involvement, 030204 cardiovascular system & hematology, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, medicine, Humans, Child, medicine.diagnostic_test, business.industry, Follow up studies, Magnetic resonance imaging, Sensory loss, medicine.disease, Magnetic Resonance Imaging, Child, Preschool, Disease Progression, Female, medicine.symptom, business, human activities, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f3215865c80a4a57278933ebfbbf60
https://doi.org/10.1097/nrl.0000000000000286

المؤلفون: Xiqian Chen, Wei Lu, Yijun Ren, Yiliu Zhang

المصدر: Acta Neurologica Belgica. 121:1649-1659

مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Neurology, Spinal cord involvement, Population, Connective tissue, Gastroenterology, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, immune system diseases, Internal medicine, mental disorders, medicine, Humans, 030212 general & internal medicine, education, Autoantibodies, Retrospective Studies, Neuroradiology, Aquaporin 4, education.field_of_study, biology, business.industry, General Medicine, Middle Aged, Magnetic Resonance Imaging, Anti-thyroid autoantibodies, medicine.anatomical_structure, Population Surveillance, biology.protein, Female, Myelin-Oligodendrocyte Glycoprotein, sense organs, Neurology (clinical), Nervous System Diseases, Antibody, business, psychological phenomena and processes, 030217 neurology & neurosurgery, Anti-SSA/Ro autoantibodies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d764eba7b54094117dc7b74468302c
https://doi.org/10.1007/s13760-020-01455-7

المؤلفون: David G. Kirsch, Dan G. Blazer, Jessica W. Lee, Diana M. Cardona

المصدر: Advances in Radiation Oncology

مصطلحات موضوعية: medicine.medical_specialty, Retroperitoneal sarcomas, business.industry, medicine.medical_treatment, Spinal cord involvement, Teaching Case, 030218 nuclear medicine & medical imaging, Radiation therapy, 03 medical and health sciences, 0302 clinical medicine, Oncology, Boost radiation therapy, Symptom relief, Curative treatment, 030220 oncology & carcinogenesis, Medicine, Retroperitoneal sarcoma, Radiology, Nuclear Medicine and imaging, Radiology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af018b7fd80e6f22c93fe60f77b2601
http://europepmc.org/articles/PMC7718497

المؤلفون: Wongkittichote, Parith, Magistrati, Martina, Shimony, Joshua S, Smyser, Christopher D, Fatemi, Seyed Ali, Fine, Amena S, Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

المساهمون: Wongkittichote, Parith, Magistrati, Martina, Shimony, Joshua S, Smyser, Christopher D, Fatemi, Seyed Ali, Fine, Amena S, Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

مصطلحات موضوعية: Aspartyl-tRNA synthetase, DARS2, Leukodystrophy, Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Mitochondrial disorder, Adolescent, Adult, Ataxia, Brain Stem, Disease Progression, Human, Lactic Acid, Mutation, Saccharomyces cerevisiae, Sibling, Spinal Cord, Aspartate-tRNA Ligase, Leukoencephalopathies

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000835495200002; volume:136; issue:4; firstpage:260; lastpage:267; numberofpages:8; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11381/2933564; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133931020; https://reader.elsevier.com/reader/sd/pii/S1096719222003614?token=A3D23B17F25DA94CE866AB475470FA8F6A46462A782BA7F55086721EC73D21B48405CE6FF97EF260265B0536BCE4F311&originRegion=eu-west-1&originCreation=20221118095141

الاتاحة: https://hdl.handle.net/11381/2933564
https://doi.org/10.1016/j.ymgme.2022.07.002
https://reader.elsevier.com/reader/sd/pii/S1096719222003614?token=A3D23B17F25DA94CE866AB475470FA8F6A46462A782BA7F55086721EC73D21B48405CE6FF97EF260265B0536BCE4F311&originRegion=eu-west-1&originCreation=20221118095141

المؤلفون: Gary D. Housley, Dominik Fröhlich, Matthias Klugmann, Annapoorani Muthiah

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2021)
Frontiers in Cellular Neuroscience

مصطلحات موضوعية: 0301 basic medicine, DARS2, leukodystrophy, leukoencephalopathy, DARS1, aminoacyl-tRNA synthetases, Review, Disease, Biology, lcsh:RC321-571, Leukoencephalopathy, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, aspartyl-tRNA synthetase, medicine, Spasticity, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetics, Leukodystrophy, medicine.disease, Phenotype, 030104 developmental biology, Peripheral neuropathy, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, Cellular Neuroscience, hypomyelination with brainstem and spinal cord involvement and leg spasticity, Brainstem, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a181444d850f5a9c18c64911872c4b
https://www.frontiersin.org/articles/10.3389/fncel.2020.626610/full

المؤلفون: Victor M. Rivera

المصدر: Biomedicines, Vol 9, Iss 1605, p 1605 (2021)
Biomedicines

مصطلحات موضوعية: Pediatric onset, QH301-705.5, child neurology, minority populations, Spinal cord involvement, Medicine (miscellaneous), Disease, Bioinformatics, multiple sclerosis, sphingosine-1-phosphate modulators, General Biochemistry, Genetics and Molecular Biology, Downregulation and upregulation, Active disease, microRNA, medicine, Biology (General), Neuroinflammation, neurofilaments light chain, business.industry, Multiple sclerosis, biomarkers, spinal cord, medicine.disease, acetylcholine, microRNAs, Editorial, PBMCs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5acc59cceaad3784499d1daac0e7b565
https://www.mdpi.com/2227-9059/9/11/1605

المؤلفون: Yang Zheng, Gao-Li Fang, Lei Li, Yin-Xi Zhang

المصدر: J Spinal Cord Med

مصطلحات موضوعية: Male, China, Pediatrics, medicine.medical_specialty, Spinal cord involvement, Myelitis, Context (language use), Late onset, Case Reports, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Spectrum disorder, 030212 general & internal medicine, Stroke, Spinal Cord Injuries, Aged, Aged, 80 and over, Aquaporin 4, Neuromyelitis optica, business.industry, Neuromyelitis Optica, medicine.disease, Aquaporin-4 antibody, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::327f7f031fae03fc224c0b85adf5d615
https://doi.org/10.1080/10790268.2020.1749475

المؤلفون: Abdorreza Naser Moghadasi

المصدر: Expert Review of Ophthalmology. 15:1-9

مصطلحات موضوعية: Autoimmune disease, Pathology, medicine.medical_specialty, Neuromyelitis optica, business.industry, Spinal cord involvement, Biomedical Engineering, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, Optic nerve, Vitamin D and neurology, Spectrum disorder, Genetic risk, business, 030217 neurology & neurosurgery, Optometry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::563409d879e8b8188f68bba4cea95b34
https://doi.org/10.1080/17469899.2020.1723416

المؤلفون: Mitsuru Watanabe, Noriko Isobe, Zhiwen Liu, Yuri Nakamura, Takuya Matsushita, Akio Hiwatashi, Jun Ichi Kira, Koji Shinoda, Shotaro Hayashida, Ryo Yamasaki, Shoko Fukumoto, Ayako Sakoda

المصدر: European Journal of Neurology. 27:92-99

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Spinal cord involvement, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, medicine, Humans, Disabled Persons, Spectrum disorder, 030212 general & internal medicine, Aged, Expanded Disability Status Scale, Predictive marker, Neuromyelitis optica, business.industry, Multiple sclerosis, Neuromyelitis Optica, Age Factors, Middle Aged, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Cross-Sectional Studies, medicine.anatomical_structure, Spinal Cord, Neurology, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ea2a86e00cf02d3603df2a9b43eae6
https://doi.org/10.1111/ene.14038

المؤلفون: Lin Gan, Wei Jiang, Ming Dong, Peng Yu, Xiao-Zhong Jing, Wan-An Zhu

المصدر: Journal of Neurology. 266:2330-2333

مصطلحات موضوعية: medicine.medical_specialty, Neurology, medicine.diagnostic_test, business.industry, Spinal cord involvement, MEDLINE, Magnetic resonance imaging, medicine.disease, Text mining, medicine.anatomical_structure, medicine, Neurology (clinical), Radiology, business, CADASIL, Cervical vertebrae, Neuroradiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::add587165e2cbd37d1c8c92d05829b0a
https://doi.org/10.1007/s00415-019-09436-4

المؤلفون: Malik Ghannam, Brent Berry, Amjad Samara

المصدر: Radiology Case Reports, Vol 14, Iss 5, Pp 576-580 (2019)
Radiology Case Reports

مصطلحات موضوعية: lcsh:Medical physics. Medical radiology. Nuclear medicine, Pathology, medicine.medical_specialty, Cerebellum, lcsh:R895-920, Spinal cord involvement, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, Vasogenic edema, 0302 clinical medicine, medicine, Radiology, Nuclear Medicine and imaging, Hypertensive emergency, Infratentorial structures, business.industry, Posterior reversible encephalopathy syndrome, medicine.disease, Spinal cord, medicine.anatomical_structure, Neuroradiology, business, 030217 neurology & neurosurgery, Mri findings

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13fbb6a86f19318f506b0255f456be4
http://www.sciencedirect.com/science/article/pii/S1930043319300081