المؤلفون: Daniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, Flavio Dal Canto, Giovanni Signore, Federica Morani, Elisa Ceccherini, Stefano Doccini, Filippo Maria Santorelli

المصدر: Frontiers in Neuroscience, Vol 18 (2024)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, SACS, fibroblasts, ceramides, diacylglycerols, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2024.1375299/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/b3f9d6025b1443dbb0af7a0a70363fb0

المؤلفون: Byung Kwon Pi, Yeon Hak Chung, Hyun Su Kim, Soo Hyun Nam, Ah Jin Lee, Da Eun Nam, Hyung Jun Park, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6378 (2024)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS), cerebellar ataxia, Charcot-Marie-Tooth disease (CMT), Korean, SACS, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/12/6378; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/9c9da76b44204be1bdc0b13d40326986

الاتاحة: https://doi.org/10.3390/ijms25126378
https://doaj.org/article/9c9da76b44204be1bdc0b13d40326986

المؤلفون: Duncan, Emma Jane

مصطلحات موضوعية: 616.8, Endocrinology, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, ARSACS, Neurodegenerative Disease, Sacsin

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.765788

المؤلفون: Yuchao Chen, Xiaodong Lu, Yi Jin, Dan Li, Xiaojun Ye, Chenjuan Tao, Menglu Zhou, Haibo Jiang, Hao Yu

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, whole-exome sequencing, novel variant, SACS, spastic, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.845318/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/89de9a4d4d7743d889d958894240707a

المؤلفون: Bradshaw, Teisha Y.

مصطلحات موضوعية: 616.8, Medicine, Endocrinology, Autosomal recessive spastic ataxia of Charlevoix Saguenay, Neurodegenerative diseases, SACS gene, Sacsin

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.667309

المؤلفون: Briand, Marie-Michèle, Rodrigue, Xavier, Lessard, Isabelle, Mathieu, Jean, Brais, Yves, Côté, Gagnon, Cynthia

المساهمون: CIHR - Canadian Institutes of Health Research, sponsor, Institut de réadaptation en déficience physique de Québec, Québec, Canada, research center, Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Québec, Canada, research center, Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada, research center, Institut neurologique de Montréal, Université McGill, Montréal, Québec, Canada, research center

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, adults, gait disorders, natural history, Human health sciences :: Neurology, Sciences de la santé humaine :: Neurologie

Relation: 34e Congrès de la Société Française de Médecine Physique et Réadaptation, Bordeaux, France (du 17 octobre 2019 au 19 octobre 2019)

URL الوصول: https://orbi.uliege.be/handle/2268/240485

المؤلفون: Daniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, Flavio Dal Canto, Giovanni Signore, Federica Morani, Elisa Ceccherini, Stefano Doccini, Filippo Maria Santorelli

مصطلحات موضوعية: Neuroscience, Biological Engineering, Developmental Biology, Stem Cells, Artificial Intelligence and Image Processing, Endocrinology, Radiology and Organ Imaging, Autonomic Nervous System, Cellular Nervous System, Central Nervous System, Sensory Systems, Clinical Nursing: Tertiary (Rehabilitative), Decision Making, Rehabilitation Engineering, Biomedical Engineering not elsewhere classified, Signal Processing, Neurogenetics, Image Processing, autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, SACS, fibroblasts, ceramides, diacylglycerols, Ca2+

Relation: https://figshare.com/articles/dataset/Data_Sheet_2_Proteomics_and_lipidomic_analysis_reveal_dysregulated_pathways_associated_with_loss_of_sacsin_docx/25992145

الاتاحة: https://doi.org/10.3389/fnins.2024.1375299.s002
https://figshare.com/articles/dataset/Data_Sheet_2_Proteomics_and_lipidomic_analysis_reveal_dysregulated_pathways_associated_with_loss_of_sacsin_docx/25992145

المؤلفون: Morani, Federica, Doccini, Stefano, SIRICA, Roberto, PATERNO, Marta, Pezzini, Francesco, Ricca, Ivana, Simonati, Alessandro, Delledonne, Massimo, Santorelli, Filippo Maria

المساهمون: Morani, Federica, Doccini, Stefano, Sirica, Roberto, Paterno, Marta, Pezzini, Francesco, Ricca, Ivana, Simonati, Alessandro, Delledonne, Massimo, Santorelli, Filippo Maria

مصطلحات موضوعية: Autosomal recessive spastic ataxia of charlevoix-Saguenay (ARSAcS), SACS mutation, sacsin, knockout cell, autophagy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31417125; info:eu-repo/semantics/altIdentifier/wos/WOS:000480680400004; volume:9; issue:11878; firstpage:1; lastpage:16; numberofpages:16; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11562/999178; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070773917; https://doi.org/10.1038/s41598-019-48047-x

الاتاحة: http://hdl.handle.net/11562/999178
https://doi.org/10.1038/s41598-019-48047-x

المؤلفون: Parkinson, MH, Bartmann, AP, Clayton, LMS, Nethisinghe, S, Pfundt, R, Chapple, JP, Reilly, MM, Manji, H, Wood, NJ, Bremner, F, Giunti, P

المصدر: Brain , 141 (4) pp. 989-999. (2018)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, optical coherence tomography, retinal nerve fibre layer, ataxia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10047041/3/Giunti_OCT%20in%20ARSACS%20-%20Draft%2023%20Post%202nd%20Brain%20Submission.pdf; https://discovery.ucl.ac.uk/id/eprint/10047041/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10047041/3/Giunti_OCT%20in%20ARSACS%20-%20Draft%2023%20Post%202nd%20Brain%20Submission.pdf
https://discovery.ucl.ac.uk/id/eprint/10047041/

المؤلفون: François-Xavier Borruat, Graham E. Holder, Fion Bremner

المصدر: Frontiers in Neurology, Vol 8 (2017)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, Charlevoix-Saguenay, erg, On− bipolar cells, electronegative electroretinography, foveal hypoplasia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2017.00523/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e0e3ef9b9e5643858ec591823aebeb82

المؤلفون: M Suraj Menon, C Velayudhan Shaji, K Abdulkhayar Kabeer, G Parvathy

المصدر: Archives of Medicine and Health Sciences, Vol 4, Iss 1, Pp 122-124 (2016)

مصطلحات موضوعية: Autosomal recessive ataxia, autosomal recessive spastic ataxia of Charlevoix-Saguenay, sacsin, Medicine

وصف الملف: electronic resource

Relation: http://www.amhsjournal.org/article.asp?issn=2321-4848;year=2016;volume=4;issue=1;spage=122;epage=124;aulast=Menon; https://doaj.org/toc/2321-4848

URL الوصول: https://doaj.org/article/0f18de334bc04528b88fd67c5c55f85c

المؤلفون: Pedroso, J L, Braga-Neto, P, Abrahão, A, Rivero, R L M, Abdalla, C, Abdala, N, Barsottini, O G P

المصدر: Arquivos de Neuro-Psiquiatria. January 2011 69(2b)

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, early onset spastic ataxia

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000300004

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

المساهمون: 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

Relation: 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.2017.00523; https://scholarbank.nus.edu.sg/handle/10635/178138

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/178138

المؤلفون: Suresh Pandi, Anirudda Deshpande, Supriya Khardenavis

المصدر: Journal of Mahatma Gandhi Institute of Medical Sciences, Vol 19, Iss 1, Pp 62-64 (2014)

مصطلحات موضوعية: Autosomal recessive spastic ataxia of Charlevoix-Saguenay ARSACS, Spastic Ataxia, Charlevoix Saguenay spastic ataxia, Medicine, Other systems of medicine, RZ201-999

وصف الملف: electronic resource

Relation: http://www.jmgims.co.in/article.asp?issn=0971-9903;year=2014;volume=19;issue=1;spage=62;epage=64;aulast=Pandi; https://doaj.org/toc/0971-9903

URL الوصول: https://doaj.org/article/61cdb7ba8c6f447689020b1fe1f3bba8

المؤلفون: Yuchao Chen, Xiaodong Lu, Yi Jin, Dan Li, Xiaojun Ye, Chenjuan Tao, Menglu Zhou, Haibo Jiang, Hao Yu

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, autosomal recessive spastic ataxia of Charlevoix-Saguenay, whole-exome sequencing, novel variant, SACS, spastic

Relation: https://figshare.com/articles/dataset/Table_1_A_Novel_SACS_Variant_Identified_in_a_Chinese_Patient_Case_Report_and_Review_of_the_Literature_DOCX/19389602

الاتاحة: https://doi.org/10.3389/fneur.2022.845318.s001
https://figshare.com/articles/dataset/Table_1_A_Novel_SACS_Variant_Identified_in_a_Chinese_Patient_Case_Report_and_Review_of_the_Literature_DOCX/19389602

المؤلفون: Briand, Marie-Michèle, Rodrigue, Xavier, Lessard, Isabelle, Mathieu, Jean, Brais, Yves, Côté, Gagnon, Cynthia

المساهمون: Institut de réadaptation en déficience physique de Québec, Québec, Canada, Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Québec, Canada, Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada, Institut neurologique de Montréal, Université McGill, Montréal, Québec, Canada

المصدر: 34e Congrès de la Société Française de Médecine Physique et Réadaptation, Bordeaux, France [FR], du 17 octobre 2019 au 19 octobre 2019

مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, adults, gait disorders, natural history, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

Relation: https://orbi.uliege.be/handle/2268/240485; info:hdl:2268/240485

الاتاحة: https://orbi.uliege.be/handle/2268/240485

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=964e863e0958ab5769403bda7371d48f

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

Relation: http://hdl.handle.net/11615/80854

الاتاحة: http://hdl.handle.net/11615/80854
https://doi.org/10.1007/s12031-019-01410-z

المؤلفون: Yuvadee Pitakpatapee, Chanin Limwongse, Prachaya Srivanitchapoom, Niphon Chirapapaisan, Jindapa Srikajon

المصدر: Tremor and Other Hyperkinetic Movements

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, genetic structures, Fundus Oculi, Neural Conduction, hereditary ataxia, Video Abstract, Nystagmus, Neuroimaging, ARSACS, Cerebellum, Pons, Dysmetria, Autosomal recessive spastic ataxia of Charlevoix-Saguenay, medicine, Humans, Spinocerebellar Ataxias, Heat-Shock Proteins, Scanning speech, business.industry, Electrodiagnosis, SACS gene, Brain, Thailand, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Spinal Cord, Muscle Spasticity, Lower limb spasticity, Female, novel mutation, Spastic ataxia, medicine.symptom, business, Novel mutation, Cerebellar Vermis, Optic disc

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5252d89682da133ddcb9b0ec742ae12d
https://doi.org/10.5334/tohm.68

المؤلفون: Hiroshi Doi, Hirotomo Saitsu, Katsuhisa Ogata, Mitsuru Kawai, Naomichi Matsumoto, Noriko Miyake, Satoko Miyatake

المصدر: Internal Medicine. 2012, 51(16):2221

المؤلفون: Maria Fulvia de Leva, Carlo Storelli, Amilcare Barca, Alessandro Romano, Filippo M. Santorelli, Tiziano Verri, Alessandra Tessa, Fabiana Fattori, Alessandra Terracciano

المساهمون: Romano, Alessandro, Alessandra, Tessa, Barca, Amilcare, Fabiana, Fattori, Maria Fulvia de, Leva, Alessandra, Terracciano, Storelli, Carlo, Filippo Maria, Santorelli, Verri, Tiziano

المصدر: Human Mutation

مصطلحات موضوعية: Mutant, Sequence alignment, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Exon, Phylogenetics, Genetics, medicine, Humans, Spinocerebellar Ataxias, RNA, Messenger, functional mapping of human mutations, Heat-Shock Proteins, Phylogeny, Research Articles, Genetics (clinical), Mutation, Neurodegeneration, neurodegeneration, Chromosome Mapping, Computational Biology, functional mapping of human mutation, Exons, Sequence Analysis, DNA, comparative protein analysis, medicine.disease, protein domain architecture, Phenotype, repeated domain, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Muscle Spasticity, repeated domains, sacsin, Spinocerebellar ataxia, autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS), comparative protein analysi, Sequence Alignment, SACS

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fda4bff6847dc2c5341c01339bc8ae
https://doi.org/10.1002/humu.22269