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1
المؤلفون: Sascha Vermeer, Matthieu Moisse, Liesbeth Keldermans, Kristl G. Claeys, Sien Hilde Van Daele, Hilde Van Esch, Philip Van Damme, Amélie Van Eesbeeck, Valerie Race
المصدر: European Journal of Neurology. 29:345-349
مصطلحات موضوعية: medicine.medical_specialty, medical genetics, Ataxia, Hereditary spastic paraplegia, Ubiquitin-Protein Ligases, sensory, genotype-phenotype correlation, case study, Sensory ataxia, medicine, Humans, Loss function, Exome sequencing, Retrospective Studies, Genetic testing, Genetics, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, ataxia, spastic paraparesis, medicine.disease, Pedigree, Phenotype, Neurology, Mutation, Medical genetics, Neurology (clinical), medicine.symptom, business
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cab58cec45cdadd91098bd79b2ce8cbTest
https://doi.org/10.1111/ene.15091Test -
2
المؤلفون: Shinobu Minatani, Hiroyuki Hatsuta, Yoshiaki Itoh, Akitoshi Takeda, Itsuki Hasegawa, Takahito Yoshizaki, Kunihiro Yoshida, Yasufumi Kondo, Takato Abe, Hiroka Sakaguchi, Kosuke Okamoto, Naotaka Miyazawa, Toshikazu Mino
المصدر: Neurology and Clinical Neuroscience. 9:369-375
مصطلحات موضوعية: コロニー刺激因子1受容体, medial frontal lobe, medicine.diagnostic_test, business.industry, cerebral blood flow, white matter lesion, White matter lesion, CSF1R, Single-photon emission computed tomography, medicine.disease, hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, Neurology, Cerebral blood flow, 遺伝性びまん性白質脳症, 白質病変, medicine, Hereditary diffuse leukoencephalopathy with spheroids, Neurology (clinical), Nuclear medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24dae2410606e75fe020cc375ae606d8Test
https://doi.org/10.1111/ncn3.12525Test -
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المؤلفون: Nicole Chemaly, Anna Kaminska, Monika Eisermann, Emma Losito, Isabelle Desguerre, Rima Nabbout, Marc Abi Aoun
المصدر: Epileptic Disorders. 23:191-200
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Encephalopathy, Epilepsies, Myoclonic, Context (language use), Status epilepticus, Audiology, Electroencephalography, Myoclonic absences, Epilepsy, Status Epilepticus, mental disorders, medicine, Humans, Ictal, Child, medicine.diagnostic_test, Electromyography, business.industry, General Medicine, medicine.disease, nervous system diseases, Epilepsy, Absence, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Myoclonus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f6e403b5d68a83bf336428035d98f6Test
https://doi.org/10.1684/epd.2021.1240Test -
4
المؤلفون: Ricardo Nitrini, Egberto Reis Barbosa, Adalberto Studart-Neto, Isabel Junqueira de Almeida, Carla Rachel Ono, Jacy Bezerra Parmera, Carlos Alberto Buchpiguel, Camila de Godoi Carneiro, Sonia Maria Dozzi Brucki, Mateus Rozalem Aranha, Artur Martins Coutinho, Davi Jorge Fontoura Solla
المصدر: Movement Disorders. 36:651-661
مصطلحات موضوعية: 0301 basic medicine, Amyloid, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Movement disorders, Perseveration, Limb dystonia, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Alzheimer Disease, Fluorodeoxyglucose F18, medicine, Humans, Corticobasal degeneration, Aniline Compounds, medicine.diagnostic_test, business.industry, Brain, Cognition, medicine.disease, 030104 developmental biology, Neurology, Positron emission tomography, Positron-Emission Tomography, Neurology (clinical), Radiopharmaceuticals, medicine.symptom, business, Myoclonus, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3deeff389dcd00fd6e1e157072a816d7Test
https://doi.org/10.1002/mds.28373Test -
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المؤلفون: Ji Eun Choi, Il Joon Moon, Byung-Ok Choi, Sung Hwa Hong, Jin Myoung Seok, Hye Yoon Seol
المصدر: European Journal of Neurology. 27:2079-2088
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Hearing loss, Neurophysiology, Audiology, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, In patient, 030212 general & internal medicine, Psychoacoustics, medicine.diagnostic_test, business.industry, Audiogram, Spectral processing, Neurology, Auditory Perception, Neurology (clinical), Brainstem, medicine.symptom, Audiometry, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffaa67c689ec229bc209f7446caca899Test
https://doi.org/10.1111/ene.14370Test -
6
المؤلفون: David Bendahan, Augustin C. Ogier, Emilien Delmont, Marie-Noëlle Lefebvre, Etienne Fortanier, Patrick Viout, Maxime Guye, Shahram Attarian
المصدر: European Journal of Neurology. 27:1382-1389
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Magnetic Resonance Spectroscopy, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Quantitative assessment, Humans, Muscle Strength, 030212 general & internal medicine, Magnetization transfer, Tibial nerve, medicine.diagnostic_test, business.industry, Magnetic resonance neurography, Magnetic resonance imaging, Nerve injury, Magnetic Resonance Imaging, Sciatic Nerve, Compound muscle action potential, Neurology, Neurology (clinical), Sciatic nerve, medicine.symptom, Nuclear medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85ab3c55a2e6aeab4bad1164646cdd55Test
https://doi.org/10.1111/ene.14303Test -
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المؤلفون: Celso Dario Ramos, Ingrid Faber, Joseph H. Friedman, Charles Marques Lourenço, Juliana Pasquotto Souza, Wilson Marques, Orlando Graziani Povoas Barsottini, Celeste Montecchiani, Bárbara Juarez Amorim, Carlos Roberto Martins, José Luiz Pedroso, Marcondes C. França, Maidane Luise Maia, Iscia Lopes-Cendes, Alberto R. M. Martinez, Antonio Orlacchio
المصدر: Movement Disorders. 33:1650-1656
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hereditary spastic paraplegia, Degeneration (medical), Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Postsynaptic potential, Internal medicine, medicine, Dopamine transporter, medicine.diagnostic_test, biology, business.industry, Parkinsonism, Dopaminergic, medicine.disease, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, Neurology, Dopaminergic pathways, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery, Emission computed tomography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a6900d3cc21f754456ee0bf859ec171aTest
https://doi.org/10.1002/mds.27491Test -
8
المؤلفون: James E. Hilbert, PS Rosenberg, Libby Wood, Richard T. Moxley, Hanns Lochmüller, Chiara Marini-Bettolo, Shahinaz M. Gadalla, AF Best, Nikoletta Nikolenko, William B. Martens, Mark H. Greene
المصدر: European Journal of Neurology. 26:58-65
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Logistic regression, Risk Assessment, Myotonic dystrophy, Article, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Surveys and Questionnaires, Internal medicine, Cluster Analysis, Humans, Myotonic Dystrophy, Medicine, Family, Genetic Testing, Registries, 030212 general & internal medicine, Family history, education, Physical Examination, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, Cancer, Odds ratio, Middle Aged, medicine.disease, Survival Analysis, United Kingdom, United States, Standardized mortality ratio, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b4baed6fe6d39bae8020b7bc0088c1Test
https://doi.org/10.1111/ene.13763Test -
9
المؤلفون: M. Di Giovanni, Alberto Albanese, Stefania Lalli
المصدر: European Journal of Neurology. 26:5-17
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Deep brain stimulation, diagnosis, medicine.medical_treatment, Physical examination, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, otorhinolaryngologic diseases, medicine, Humans, genetics, 030212 general & internal medicine, Dystonia, medicine.diagnostic_test, business.industry, phenotypes, Focal dystonia, medicine.disease, classification, dystonia, Neurology, Neurology (clinical), Botulinum neurotoxin, nervous system diseases, Patient management, Clinical Practice, Settore MED/26 - NEUROLOGIA, Etiology, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf11e930e4626a9e9de6964c6a429c8Test
https://doi.org/10.1111/ene.13762Test -
10
المؤلفون: Amy Elphick, James E. Jackson, Trishan Patel, Claire L. Shovlin
المساهمون: Imperial College Trust
المصدر: Headache
مصطلحات موضوعية: Male, magnetic resonance imaging (MRI), Databases, Factual, Exacerbation, Photophobia, Right-to-left shunt, Contrast Media, 0302 clinical medicine, right‐to‐left shunt, Telangiectasia, Aged, 80 and over, medicine.diagnostic_test, Middle Aged, Magnetic Resonance Imaging, Neurology, Echocardiography, Injections, Intravenous, Female, Telangiectasia, Hereditary Hemorrhagic, Radiology, Headaches, medicine.symptom, Brief Communications, Life Sciences & Biomedicine, right-to-left shunt, Adult, medicine.medical_specialty, Migraine Disorders, Clinical Neurology, Young Adult, 03 medical and health sciences, Predictive Value of Tests, medicine.artery, contrast injection, medicine, Humans, hereditary hemorrhagic telangiectasia (HHT), computerized tomography (CT), Aged, Retrospective Studies, Science & Technology, Neurology & Neurosurgery, business.industry, 1103 Clinical Sciences, Magnetic resonance imaging, medicine.disease, pulmonary arteriovenous malformations (PAVMs), Contrast medium, 030228 respiratory system, Migraine, Neurosciences & Neurology, Neurology (clinical), Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00eaa108329ae8fa06a5b33616fc2f63Test
https://doi.org/10.1111/head.12963Test