المؤلفون: Graça, Ana Filipa Batista

المساهمون: Jorge, Pedro Miguel Torres Mendes, Teixeira, Manuel Tiago da Silva Ferreira, Graça, Ágata Joana Guerra Cerdeira P. F. Mendes da, RCIPL

مصطلحات موضوعية: Esclerose múltipla surto-remissão, Relapsing-Remitting Multiple Sclerosis, Cerebellum Atrophy, Magnetic Ressonance, Automatic Segmentation and Quantification, Cognitive and Motor Dysfunction, Atrofia do cerebelo, Cerebellum atrophy, Ressonância magnética, Magnetic ressonance, Segmentação e quantificação automática, Automatic segmentation and quantification, Disfunção mognitiva e motora, Cognitive and motor dysfunction

وصف الملف: application/pdf

العلاقة: GRAÇA, Ana Filipa Batista - Análise do desempenho cognitivo e motor e sua relação com a atrofia do cerebelo em pacientes com esclerose múltipla surto-remissão. Lisboa: Instituto Superior de Engenharia de Lisboa - Escola Superior de Tecnologia da Saúde de Lisboa, 2020. Dissertação de mestrado.

الإتاحة: http://hdl.handle.net/10400.21/12892Test

المؤلفون: Borruat, F.-X, Holder, G.E, Bremner, F

المساهمون: DEPT OF OPHTHALMOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: adult, Article, ataxic gait, autosomal recessive disorder, autosomal recessive spastic ataxia of Charlevoix Saguenay, case report, cerebellum atrophy, cerebellum vermis, clinical article, dysarthria, dysmetria, electroretinography, eye photography, gene, gene deletion, hereditary ataxia, homozygosity, human, keratoconus, male, nuclear magnetic resonance imaging, optical coherence tomography, retina bipolar ganglion cell, retina disease, SACS gene, spastic gait, spastic paraplegia, spinocerebellar degeneration, visual impairment, young adult

العلاقة: Borruat, F.-X, Holder, G.E, Bremner, F (2017). Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay. Frontiers in Neurology 8 (OCT) : 523. ScholarBank@NUS Repository. https://doi.org/10.3389/fneur.2017.00523Test; https://scholarbank.nus.edu.sg/handle/10635/178138Test

الإتاحة: https://doi.org/10.3389/fneur.2017.00523Test
https://scholarbank.nus.edu.sg/handle/10635/178138Test

المؤلفون: Gunduz, A., Aktuglu-Zeybek, A.C., Tezer, D., Enver, E.O., Zubarioglu, T., Kiykim, E., E., Kiziltan, M.

مصطلحات موضوعية: Brainstem reflexes, L-2-hydroxyglutaric aciduria, Postural tremor, Tremor, aciduria, adult, aged, apparent diffusion coefficient, Article, auditory startle response, biceps brachii muscle, brain stem, capillary electrophoresis, capsula interna, cerebellum atrophy, clinical article, clinical feature, controlled study, deltoid muscle, disease association, electrophysiology, eyelid reflex, female, fluid-attenuated inversion recovery imaging, gene mutation, human, l 2 hydroxyglutaric aciduria, male, middle aged, myoclonus

العلاقة: Neurological Sciences; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1007/s10072-021-05555-xTest; https://hdl.handle.net/20.500.12831/17565Test; 43; 2051; 2058; 2-s2.0-85113314219

الإتاحة: https://doi.org/10.1007/s10072-021-05555-xTest
https://doi.org/20.500.12831/17565Test
https://hdl.handle.net/20.500.12831/17565Test

المؤلفون: Angelo Russo, Antonella Cersosimo, Giulia Joy Leone, Duccio Maria Cordelli, Agnese Suppiej, Cristina Forest, Romano Tenconi, M Maffei, Maria Iascone

المصدر: European journal of medical genetics. 64(12)

مصطلحات موضوعية: TRNA modification, Heterozygote, Choreoathetosis, Socio-culturale, Cerebral atrophy, Biology, Compound heterozygosity, ELP3, ELP2 gene mutation, Nystagmus, Epilepsy, Atrophy, Cerebellar Diseases, Intellectual Disability, Genetics, medicine, Humans, Child, Genetics (clinical), Intracellular Signaling Peptides and Proteins, General Medicine, medicine.disease, Phenotype, Cerebellum atrophy, Mutation, Cerebellar atrophy, Female, medicine.symptom, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9745e090ae8d9ddc4f42b44a4c4950Test
https://pubmed.ncbi.nlm.nih.gov/34653680Test

المؤلفون: Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent

المساهمون: Clinical Genetics Department Dokki, Egypt, Human Genetics and Genome Research Division Dokki, Egypt -National Research Center Caire, Egypte, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme de génomique SFR Necker, Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Service de neurologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale CHU Necker, Service de radiologie pédiatrique CHU Necker, ANR-12-PDOC-0026,CerID-Gene,Mécanismes génétiques et physiopathologiques responsables de déficiences intellectuelles associées à une malformation cérébelleuse(2012), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-01322562Test ; Orphanet Journal of Rare Diseases, 2015, 11 (1), pp.57. ⟨10.1186/s13023-016-0436-9⟩.

مصطلحات موضوعية: Intellectual disability, Cerebellum atrophy, MOCS2, KIF1A, Exome sequencing, Molybdenum cofactor deficiency, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27146152; inserm-01322562; https://inserm.hal.science/inserm-01322562Test; https://inserm.hal.science/inserm-01322562/documentTest; https://inserm.hal.science/inserm-01322562/file/13023_2016_Article_436.pdfTest; PUBMED: 27146152; PUBMEDCENTRAL: PMC4855324

الإتاحة: https://doi.org/10.1186/s13023-016-0436-9Test
https://inserm.hal.science/inserm-01322562Test
https://inserm.hal.science/inserm-01322562/documentTest
https://inserm.hal.science/inserm-01322562/file/13023_2016_Article_436.pdfTest

المؤلفون: Russo A., Forest C., Leone G. J., Iascone M., Tenconi R., Maffei M., Cersosimo A., Cordelli D. M., Suppiej A.

المساهمون: Russo, A., Forest, C., Leone, G. J., Iascone, M., Tenconi, R., Maffei, M., Cersosimo, A., Cordelli, D. M., Suppiej, A.

مصطلحات موضوعية: Cerebellum atrophy, Cerebral atrophy, ELP2 gene mutation, Epilepsy, Nystagmus

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34653680; info:eu-repo/semantics/altIdentifier/wos/WOS:000711814800007; volume:64; issue:12; firstpage:104361-1; lastpage:104361-7; numberofpages:7; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11392/2475334Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116931269; https://www.sciencedirect.com/science/article/pii/S1769721221002275Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2021.104361Test
https://hdl.handle.net/11392/2475334Test
https://www.sciencedirect.com/science/article/pii/S1769721221002275Test

المؤلفون: Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent

مصطلحات موضوعية: Cerebellum atrophy, Intellectual disability, Exome sequencing, Molybdenum cofactor deficiency, MOCS2, KIF1A

العلاقة: http://www.ojrd.com/content/11/1/57Test

الإتاحة: http://www.ojrd.com/content/11/1/57Test

المؤلفون: Xiromerisiou G., Dadouli K., Marogianni C., Provatas A., Ntellas P., Rikos D., Stathis P., Georgouli D., Loules G., Zamanakou M., Hadjigeorgiou G.M.

المصدر: Journal of Molecular Neuroscience ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85074846463&doi=10.1007%2fs12031-019-01410-z&partnerID=40&md5=964e863e0958ab5769403bda7371d48fTest

مصطلحات موضوعية: achilles reflex, adolescent, adult, Article, ataxia, autosomal recessive disorder, autosomal recessive spastic ataxia of Charlevoix Saguenay, Babinski reflex, bioinformatics, case report, cerebellum atrophy, clinical article, computer model, dysmetria, exon, gene deletion, genotype phenotype correlation, homozygosity, human, male, motor neuropathy, muscle atrophy, muscle weakness, neurologic examination, nuclear magnetic resonance imaging, nystagmus, optical coherence tomography, polyneuropathy, reading frame, sensory neuropathy

العلاقة: http://hdl.handle.net/11615/80854Test

الإتاحة: https://doi.org/10.1007/s12031-019-01410-zTest
http://hdl.handle.net/11615/80854Test

المؤلفون: Fabián Gil, Ana Janeth Salazar, Jaime L. Silva, Mercedes Olaya-C, Juan David Salcedo, Jaime E. Bernal

المصدر: Pediatric and Developmental Pathology. 21:467-474

مصطلحات موضوعية: Aspiration pneumonia, Male, Multivariate analysis, Placenta, Dentate nucleus, Single umbilical artery, Neocortex, Pathogenesis, Brain ventricle dilatation, Umbilical cord, Umbilical Cord, Corpus striatum, 0302 clinical medicine, Pregnancy, Pathology, Recurrent disease, Child, Priority journal, 030219 obstetrics & reproductive medicine, Obstetrics, Anatomical pathology, General Medicine, Stillbirth, Seizure, Nuclear magnetic resonance imaging, Antemortem skin biopsy, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cerebellum atrophy, Cortical gliosis, Clarke column, Bronchiolitis, Female, Autopsy, Muscle biopsy, Human, Adult, medicine.medical_specialty, Histology, Fever, Adolescent, Clinical article, Developmental disorder, Purkinje cell, Cause of death, Cell loss, Article, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Caudate nucleus, Case report, Electron microscopy, Skin biopsy, Substantia nigra, medicine, Humans, Human tissue, Gray matter, Male gender, Walking difficulty, Fetus, Dyskinesia, Ubiquitin, Copy number variation, business.industry, Convulsion, Infant, Newborn, Microarray analysis, Hospital admission, Newborn, medicine.disease, Cord accident, Human cell, Preschool child, Central nervous system, Nuronal intranuclear inclusion disease, Degenerative disease, Archicortex, Pediatrics, Perinatology and Child Health, Hereditary motor sensory neuropathy, Muscle atrophy, business, Coiling index

وصف الملف: Recurso electrónico; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c35091cfc40b0e4cfb1271f059d47c55Test
https://doi.org/10.1177/1093526618758204Test

المؤلفون: Olaya-C M., Gil F., Salcedo J.D., Salazar A.J., Silva J.L., Bernal J.E.

المصدر: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042210996&doi=10.1177%2f1093526618758204&partnerID=40&md5=989e3b087ecfc96b444b0f1f44f5fabeTest.

مصطلحات موضوعية: Coiling index, Cord accident, Placenta, Single umbilical artery, Stillbirth, Umbilical cord, Ubiquitin, Antemortem skin biopsy, Archicortex, Article, Aspiration pneumonia, Autopsy, Brain ventricle dilatation, Bronchiolitis, Case report, Caudate nucleus, Cause of death, Cell loss, Central nervous system, Cerebellum atrophy, Child, Clarke column, Clinical article, Convulsion, Copy number variation, Corpus striatum, Cortical gliosis, Degenerative disease, Dentate nucleus, Developmental disorder

وصف الملف: Recurso electrónico; application/pdf

العلاقة: Pediatric and Developmental Pathology; Vol. 21, Núm. 5; pp. 467-474; https://hdl.handle.net/20.500.12585/8870Test; Universidad Tecnológica de Bolívar; Repositorio UTB; 56461296300; 13007407800; 57200695532; 57200700975; 53871077300

الإتاحة: https://doi.org/20.500.12585/8870Test
https://doi.org/10.1177/1093526618758204Test
https://hdl.handle.net/20.500.12585/8870Test