المؤلفون: Marty, Brice, Naeije, Gilles, Bourguignon, Mathieu, Wens, Vincent, Jousmaki, Veikko, Lynch, David R, Gaetz, Wiliiam, Goldman, Serge, Hari, Riitta, Pandolfo, Massimo, De Tiege, Xavier

المصدر: Neurology

مصطلحات موضوعية: Neurologie, Adolescent, Adult, Afferent Pathways -- physiopathology, Age of Onset, Case-Control Studies, Child, Female, Fingers, Friedreich Ataxia -- genetics -- physiopathology, Genotype, Humans, Iron-Binding Proteins -- genetics, Magnetoencephalography, Male, Middle Aged, Neural Pathways -- physiopathology, Proprioception, Sensorimotor Cortex -- physiopathology, Severity of Illness Index, Time Factors, Trinucleotide Repeat Expansion, Young Adult

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1212/WNL.0000000000007750; uri/info:pii/WNL.0000000000007750; uri/info:pmid/31197032; uri/info:scp/85069295068; https://dipot.ulb.ac.be/dspace/bitstream/2013/288467/3/Marty_NEUROLOGY_2019.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/288467Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/288467Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/288467/3/Marty_NEUROLOGY_2019.pdfTest

المؤلفون: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

المصدر: Nicholas , A K , Serra , E G , Cangul , H , Alyaarubi , S , Ullah , I , Schoenmakers , E , Deeb , A , Habeb , A M , Almaghamsi , M , Peters , C , Nathwani , N , Aycan , Z , Saglam , H , Bober , E , Dattani , M , Shenoy , S , Murray , P G , Babiker , A , Willemsen , R , Thankamony , A , Lyons , G , Irwin , R , Padidela , R , Tharian , K ....

مصطلحات موضوعية: Autoantigens/genetics, Congenital Hypothyroidism/genetics, Humans, Iodide Peroxidase/genetics, Iron-Binding Proteins/genetics, Mutation, Pedigree, Phenotype, Receptors, Thyrotropin/genetics, Thyroglobulin/genetics

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1210/jc.2016-1879Test
https://research.manchester.ac.uk/en/publications/9586acc6-ea6a-416f-a856-5c9637afdc1fTest
https://pure.manchester.ac.uk/ws/files/178024717/jcem4521.pdfTest

المؤلفون: Fouquier d'herouël, Aymeric, Birgersdotter, Anna, Werner, Maria

المصدر: Virology, 405 (2), 524-9 (2010)

مصطلحات موضوعية: Autoantigens/genetics, Binding Sites, Calmodulin-Binding Proteins/genetics, Carrier Proteins/genetics, DNA/metabolism, DNA-Binding Proteins/genetics/metabolism, Epstein-Barr Virus Nuclear Antigens/genetics/metabolism, Extracellular Matrix Proteins/genetics, Eye Proteins/genetics, Genome, Human, Viral, Herpesvirus 4, Human/genetics/metabolism, Humans, Iodide Peroxidase/genetics, Iron-Binding Proteins/genetics, Nuclear Proteins/genetics, Proteoglycans/genetics, Repetitive Sequences, Nucleic Acid/genetics/physiology, Transcription Factors, Life sciences, Microbiology, Sciences du vivant, Microbiologie

العلاقة: urn:issn:1096-0341; https://orbilu.uni.lu/handle/10993/49059Test; info:hdl:10993/49059; https://orbilu.uni.lu/bitstream/10993/49059/1/1-s2.0-S0042682210004228-main.pdfTest; scopus-id:2-s2.0-77955661979; info:pmid:20655080; wos:000281130500028

الإتاحة: https://doi.org/10.1016/j.virol.2010.06.040Test
https://orbilu.uni.lu/handle/10993/49059Test
https://orbilu.uni.lu/bitstream/10993/49059/1/1-s2.0-S0042682210004228-main.pdfTest

المؤلفون: Rai, Myriam, Soragni, Elisabetta, Chou, C James, Barnes, Glenn, Jones, Steve, Rusche, James R, Gottesfeld, Joel M, Pandolfo, Massimo

المصدر: PloS one, 5 (1

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Base Sequence, DNA Primers, Disease Models, Animal, Friedreich Ataxia -- genetics, Histone Deacetylase Inhibitors -- pharmacology, Humans, Iron-Binding Proteins -- genetics, Mice, Models, Pimelic Acids -- pharmacology, Polymerase Chain Reaction, Up-Regulation -- drug effects

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1371/journal.pone.0008825; uri/info:pmid/20098685; uri/info:scp/77749249631; uri/info:pmcid/PMC2809102; https://dipot.ulb.ac.be/dspace/bitstream/2013/59055/4/doi_35252.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/59055Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/59055Test

المؤلفون: Rai, Myriam, Soragni, Elisabetta, Jenssen, Kai, Burnett, Ryan, Herman, David, Coppola, Giovanni, Geschwind, Daniel H, Gottesfeld, Joel M, Pandolfo, Massimo

المصدر: PloS one, 3 (4

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Acetylation -- drug effects, Animals, Cerebellum -- drug effects, Cerebellum -- metabolism, Chromatin -- metabolism, Disease Models, Animal, Enzyme Inhibitors -- pharmacology, Enzyme Inhibitors -- therapeutic use, Epigenesis, Genetic -- drug effects, Friedreich Ataxia -- drug therapy, Gene Expression Profiling, Histone Deacetylase Inhibitors, Histones -- metabolism, Introns -- genetics, Iron-Binding Proteins -- genetics, Iron-Binding Proteins -- metabolism, Mice, Myocardium -- metabolism, Protein Processing, Post-Translational -- drug effects, RNA, Messenger -- genetics, Messenger -- metabolism

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1371/journal.pone.0001958; uri/info:pmid/18463734; uri/info:scp/44349114629; uri/info:pmcid/PMC2373517; https://dipot.ulb.ac.be/dspace/bitstream/2013/51452/4/doi_26541.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51452Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51452Test

المؤلفون: Brice Marty, Vincent Wens, Xavier De Tiège, Mathieu Bourguignon, Serge Goldman, Massimo Pandolfo, Riitta Hari, William Gaetz, David A. Lynch, Veikko Jousmäki, Gilles Naeije

المساهمون: Université Libre de Bruxelles, Department of Neuroscience and Biomedical Engineering, Children's Hospital of Philadelphia, Department of Art, Aalto-yliopisto, Aalto University

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, Time Factors, Iron-Binding Proteins -- genetics, Friedreich Ataxia -- genetics -- physiopathology, Severity of Illness Index, 0302 clinical medicine, Cortex (anatomy), Iron-Binding Proteins, Neural Pathways, Young adult, Age of Onset, Child, Sensorimotor Cortex -- physiopathology, MEG, medicine.diagnostic_test, Magnetoencephalography, Middle Aged, 3. Good health, medicine.anatomical_structure, Female, Sensorimotor Cortex, medicine.symptom, Corticokinematic coherence, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Genotype, Fingers, 03 medical and health sciences, Young Adult, Physical medicine and rehabilitation, Neurologie, Severity of illness, medicine, Humans, human, Afferent Pathways, Proprioception, business.industry, Neural Pathways -- physiopathology, Case-control study, nutritional and metabolic diseases, nervous system diseases, 030104 developmental biology, Friedreich ataxia, Friedreich Ataxia, Case-Control Studies, Afferent Pathways -- physiopathology, Neurology (clinical), Age of onset, business, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf; 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ea7d5c8c3500726c2fb75852593939Test
https://aaltodoc.aalto.fi/handle/123456789/40088Test

المؤلفون: Maria Werner, Aymeric Fouquier d'Hérouël, Anna Birgersdotter

المصدر: Virology. 405(2):524-529

مصطلحات موضوعية: Herpesvirus 4, Human, Carrier Proteins/genetics, Microbiologie [F11] [Sciences du vivant], viruses, Autoantigens/genetics, Genome, Autoantigens, Repetitive Sequences, Nucleic Acid/genetics/physiology, Epstein–Barr virus, Family of Repeats, Human binding sites, Iron-Binding Proteins, hemic and lymphatic diseases, DNA/metabolism, Microbiology [F11] [Life sciences], Genetics, education.field_of_study, Extracellular Matrix Proteins, Nuclear Proteins, Epstein-Barr Virus Nuclear Antigens/genetics/metabolism, DNA-Binding Proteins, Regulatory sequence, Proteoglycans, Population, Genome, Viral, Herpesvirus 4, Human/genetics/metabolism, Biology, Eye Proteins/genetics, Extracellular Matrix Proteins/genetics, Iodide Peroxidase, Viral entry, Virology, otorhinolaryngologic diseases, Humans, education, Eye Proteins, Transcription factor, Gene, Repetitive Sequences, Nucleic Acid, EBNA1, Binding Sites, Genome, Human, Iron-Binding Proteins/genetics, DNA, Calmodulin-Binding Proteins/genetics, Iodide Peroxidase/genetics, Nuclear Proteins/genetics, stomatognathic diseases, Viral replication, Epstein-Barr Virus Nuclear Antigens, Proteoglycans/genetics, DNA-Binding Proteins/genetics/metabolism, Human genome, Calmodulin-Binding Proteins, Carrier Proteins, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a22d089d7f8dbe687303635e879b83Test

المؤلفون: Schulz, Jörg Bernhard, Pandolfo, Massimo

المصدر: Journal of neurochemistry, 126 Suppl 1

مصطلحات موضوعية: Neurologie, Clinical Trials as Topic, Friedreich Ataxia -- drug therapy -- genetics -- history -- physiopathology -- therapy, Germany, History, Humans, Iron-Binding Proteins -- genetics

الوقت: 19th Century

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1111/jnc.12327; uri/info:pmid/24024236; uri/info:scp/84880376563; https://dipot.ulb.ac.be/dspace/bitstream/2013/155142/3/155142.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/155142Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/155142Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/155142/3/155142.pdfTest

المؤلفون: Soderberg, C. A. G., Rajan, S., Shkumatov, A. V., Gakh, O., Schaefer, S., Ahlgren, E.-C., Svergun, D. I., Isaya, G., Al-karadaghi, S.

المصدر: The journal of biological chemistry 288, 8156 (2013). doi:10.1074/jbc.M112.442285

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Amino Acid Sequence, Amino Acid Substitution, Binding Sites, Conserved Sequence, Crystallography, X-Ray, Escherichia coli Proteins: chemistry, Iron: chemistry, Iron-Binding Proteins: chemistry, Iron-Binding Proteins: genetics, Models, Molecular, Molecular Sequence Data, Mutagenesis, Site-Directed, Oxidation-Reduction, Protein Binding, Protein Interaction Domains and Motifs, Protein Multimerization, Protein Structure, Quaternary, Secondary, Scattering, Small Angle, Thermodynamics, CyaY protein, E coli, Escherichia coli Proteins, Iron-Binding Proteins

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0021-9258; info:eu-repo/semantics/altIdentifier/pmid/pmid:23344952; info:eu-repo/semantics/altIdentifier/issn/1083-351X; info:eu-repo/semantics/altIdentifier/wos/WOS:000316564500016; https://bib-pubdb1.desy.de/record/148379Test; https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-26381%22Test

الإتاحة: https://doi.org/10.1074/jbc.M112.442285Test
https://bib-pubdb1.desy.de/record/148379Test
https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-26381%22Test

المؤلفون: Picard, E., Ranchon-Cole, I., Jonet, L., Beaumont, C., Behar-Cohen, F., Courtois, Y., Jeanny, J.C.

المصدر: Investigative Ophthalmology and Visual Science, vol. 52, no. 3, pp. 1261-1274

مصطلحات موضوعية: Aging/physiology, Animals, Apoferritins/genetics, Apoferritins/metabolism, Cation Transport Proteins/genetics, Enzyme-Linked Immunosorbent Assay, Female, Fluorescent Antibody Technique, Indirect, Gene Expression Regulation/physiology, Iron/metabolism, Iron-Binding Proteins/genetics, Light, Male, Mice, Inbred BALB C, Oxidative Stress, RNA, Messenger/genetics, Radiation Injuries, Experimental/etiology, Experimental/genetics, Retina/radiation effects, Retinal Degeneration/etiology, Retinal Degeneration/genetics, Reverse Transcriptase Polymerase Chain Reaction

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20881284; info:eu-repo/semantics/altIdentifier/eissn/1552-5783; https://serval.unil.ch/notice/serval:BIB_4AE313323726Test; urn:issn:0146-0404

الإتاحة: https://doi.org/10.1167/iovs.10-5705Test
https://serval.unil.ch/notice/serval:BIB_4AE313323726Test