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1
المؤلفون: Zeliha Gormez, Ayberk Türkyılmaz, Gazanfer Ekinci, Dilsad Turkdogan
المصدر: Clinical Dysmorphology. 29:217-223
مصطلحات موضوعية: Male, Genotype, Chromosomal Proteins, Non-Histone, media_common.quotation_subject, Nonsense, MEDLINE, Cell Cycle Proteins, SMC1A, Bioinformatics, Pathology and Forensic Medicine, Cerebellar Diseases, Humans, Medicine, Genetic Predisposition to Disease, Child, Alleles, Genetic Association Studies, Genetics (clinical), media_common, business.industry, Facies, Electroencephalography, General Medicine, Magnetic Resonance Imaging, Phenotype, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Cerebellar atrophy, Atrophy, Anatomy, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3928ee3b8a57d2a26de0f111e761ca78
https://doi.org/10.1097/mcd.0000000000000326 -
2
المصدر: Clinical Dysmorphology. 20:156-159
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Ataxia, Pathology and Forensic Medicine, Young Adult, Cerebellar Diseases, Cerebellum, Intellectual Disability, Cryptorchidism, medicine, Humans, Myhre syndrome, Psychiatry, Growth Disorders, Genetics (clinical), business.industry, Facies, Hypertrophy, General Medicine, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, Female, Cerebellar atrophy, Atrophy, Joint Diseases, Anatomy, medicine.symptom, business, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc56ee9f1d14db32242419fb3122cd1e
https://doi.org/10.1097/mcd.0b013e3283468043 -
3
المؤلفون: Jim Grigsby, Charles DeCarli, Susan M. Rivera, John Adams, Kami Koldewyn, Wenting Zhang, Paul J. Hagerman, Flora Tassone, Danh V. Nguyen, James A. Brunberg, Lin Zhang, Randi J Hagerman, Patrick E. Adams
المصدر: Neurology. 69:851-859
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ataxia, Genotype, DNA Mutational Analysis, Physiology, Neurological disorder, Nerve Fibers, Myelinated, Central nervous system disease, White matter, Fragile X Mental Retardation Protein, Atrophy, Cerebellar Diseases, Tremor, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Psychiatry, Aged, Sex Characteristics, Middle Aged, medicine.disease, Magnetic Resonance Imaging, FMR1, Fragile X syndrome, medicine.anatomical_structure, Fragile X Syndrome, Female, Neurology (clinical), medicine.symptom, Trinucleotide Repeat Expansion, Psychology, Fragile X-associated tremor/ataxia syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8b2332bf5ca88e28209c25bf29fb1b
https://doi.org/10.1212/01.wnl.0000269781.10417.7b -
4
المؤلفون: Gareth J. Barker, Sabine Landau, Andrew Simmons, Derek K. Jones, Steven Williams, Richard G. Brown, Peter Leigh, Camilla Blain, N A Coyle, Kallol Ray Chaudhuri, Jozef Jarosz
المصدر: ResearcherID
مصطلحات موضوعية: Male, Decussation, Pathology, medicine.medical_specialty, Sensitivity and Specificity, Progressive supranuclear palsy, Atrophy, Cerebellar Diseases, Cerebellum, Pons, Image Interpretation, Computer-Assisted, Fractional anisotropy, medicine, Humans, Aged, Cerebellar ataxia, medicine.diagnostic_test, business.industry, Reproducibility of Results, Parkinson Disease, Magnetic resonance imaging, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, eye diseases, nervous system diseases, Diffusion Magnetic Resonance Imaging, nervous system, Female, Neurology (clinical), medicine.symptom, business, Brain Stem, Diffusion MRI
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781ba9c97a76d740de1530c20fd13e53
https://doi.org/10.1212/01.wnl.0000249307.59950.f8 -
5
المؤلفون: Gregor K. Wenning, Niall Quinn, Yoav Ben-Shlomo, François Tison
المصدر: Neurology. 48:384-393
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Striatonigral Degeneration, Central nervous system disease, Olivopontocerebellar atrophy, Atrophy, Cerebellar Diseases, Epidemiology, medicine, Humans, Survival analysis, Aged, Brain Diseases, business.industry, Hazard ratio, Parkinson Disease, Middle Aged, medicine.disease, Corpus Striatum, Surgery, Autonomic Nervous System Diseases, Olivopontocerebellar Atrophies, Female, Neurology (clinical), Age of onset, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7726b3b8b31dc9da0eeeeca714bd2d89
https://doi.org/10.1212/wnl.48.2.384 -
6
المؤلفون: Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Wladimir Bocca Vieira de Rezende Pinto
المصدر: Neurology. 86:e201-e201
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Neurology, genetic structures, Mucopolysaccharidosis I, Neuroimaging, 030105 genetics & heredity, Consanguinity, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Atrophy, Cerebellar Diseases, Ophthalmology, medicine, Humans, Family history, Oculomotor apraxia, medicine.diagnostic_test, Muscular hypotonia, business.industry, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Child, Preschool, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd13e5365ee0abb9e1c40c45b8a9248
https://doi.org/10.1212/wnl.0000000000002643 -
7
المؤلفون: Menachem Sadeh, Alexander Lossos
المصدر: Neurology. 70:578-578
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, DNA Mutational Analysis, Diagnosis, Differential, Brain ct, Text mining, Cerebellar Diseases, Predictive Value of Tests, Cerebellum, Iron-Binding Proteins, Hand tremor, Tremor, Humans, Medicine, DNA Repeat Expansion, business.industry, Middle Aged, Magnetic Resonance Imaging, Hyperintensity, nervous system diseases, Fragile X Syndrome, Mutation, Neurology (clinical), Radiology, Atrophy, Tomography, X-Ray Computed, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7133ef3e2f4e013dec15569bb80ebbc
https://doi.org/10.1212/01.wnl.0000299191.34969.9a -
8
المؤلفون: K, Chida, M, Tamura, I, Kamikura, T, Takasu, N, Goto
المصدر: Neurology. 40:1241-1241
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Cerebellum, Computed tomography, Degeneration (medical), Autonomic Nervous System, Degenerative disease, Cerebellar Diseases, Pons, medicine, Cerebellar Degeneration, Humans, In patient, medicine.diagnostic_test, business.industry, Pons Varolii, Middle Aged, medicine.disease, medicine.anatomical_structure, Female, Neurology (clinical), Atrophy, Tomography, X-Ray Computed, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f780d4b244dddd5de82a3aad736ab162
https://doi.org/10.1212/wnl.40.8.1241 -
9
المؤلفون: Jorgen Stovring
المصدر: Journal of Computer Assisted Tomography. 1:319-323
مصطلحات موضوعية: medicine.medical_specialty, Ventricular system, Functional Laterality, Atrophy, Cerebellar Diseases, Cerebellum, medicine, Humans, False Positive Reactions, Radiology, Nuclear Medicine and imaging, Atrium (heart), Encephalocele, Brain Diseases, Mass/lesion, business.industry, Anatomy, medicine.disease, Hydrocephalus, Surgery, medicine.anatomical_structure, Ventricle, Horn (acoustic), Tomography, X-Ray Computed, business, Tentorial herniation, Dilatation, Pathologic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5ab675d63c0456a595920396fe25758
https://doi.org/10.1097/00004728-197707000-00006 -
10
المؤلفون: Leslie P. Weiner, Bruce W. Konigsmark
المصدر: Medicine. 49:227-242
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Ataxin 7, Adolescent, MEDLINE, Olivary Nucleus, Retina, Cerebellar Cortex, Olivopontocerebellar atrophy, Atrophy, Cerebellar Diseases, Pons, Humans, Medicine, Child, Aged, biology, business.industry, Infant, General Medicine, Middle Aged, medicine.disease, Spinal Cord, Child, Preschool, Cerebellar cortex, biology.protein, Female, business, Spinal cord pathology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6b2d46aed0db0fa4008e057cd562d0
https://doi.org/10.1097/00005792-197005000-00003