المؤلفون: Gina L. O'Grady, Alice Theadom, Miriam Rodrigues, Annemarei Ranta, Priya Parmar, Gemma Poke, Richard Roxburgh, Donald R. Love, Braden Te Ao, Kelly Jones, Graeme Hammond-Tooke

المصدر: Quality of Life Research. 31:1657-1666

مصطلحات موضوعية: Gerontology, education.field_of_study, medicine.medical_specialty, business.industry, Public health, Population, Public Health, Environmental and Occupational Health, Muscle disorder, Social support, Quality of life, medicine, Anxiety, medicine.symptom, education, business, Psychosocial, Depression (differential diagnoses)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::519820fc01256796798c277291892ef0Test
https://doi.org/10.1007/s11136-021-03046-2Test

المؤلفون: Mark R. Davis, Henry Houlden, Roisin Sullivan, Andrea Cortese, Sarah J. Beecroft, Richard Roxburgh, Carolin K. Scriba, Wai Yan Yau, Natalia Dominik, Teddy Y. Wu, Mary M. Reilly, Zoe Dyer, Gianina Ravenscroft, Miriam Rodrigues, Phillipa J. Lamont, Joshua S. Clayton, Ben Weisburd, David Chandler, Nigel G. Laing, Elizabeth B. Walker

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, Genetics, Vestibular areflexia, Cerebellar ataxia, Haplotype, Intron, Biology, Phenotype, law.invention, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, law, Report, medicine, Neurology (clinical), Allele, medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Polymerase chain reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e7c5eb2dfa6e3718826d1973425d6dTest
https://doi.org/10.1093/brain/awaa263Test

المؤلفون: James D. Triplett, Jessica Qiu, Billy O'Brien, Sumana Gopinath, Benjamin Trewin, Penelope J. Spring, Mohamed Shaffi, Jerome Ip, Fiona Chan, Luke Chen, Ian Wilson, Claire Muller, Heidi N. Beadnall, Mike Boggild, Anneke Van der Walt, Richard Roxburgh, Nabil Seery, Tomas Kalincik, Michael H. Barnett, John D. E. Parratt, Stephen W. Reddel, Benjamin Tsang, Todd A. Hardy

المصدر: European journal of neurology. 29(6)

مصطلحات موضوعية: Adult, Diagnosis, Differential, Brain Diseases, Susac Syndrome, Neurology, Brain, Humans, Neurology (clinical), Diagnostic Errors, Magnetic Resonance Imaging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427bd8750e34ec4bf471ff1454edbf18Test
https://pubmed.ncbi.nlm.nih.gov/35262238Test

المؤلفون: Phillipa J. Lamont, Laurel Hiatt, Nigel G. Laing, Heather C Mefford, Gianina Ravenscroft, Sarah J. Beecroft, Richard Roxburgh, Joseph Brown, Aaron R. Quinlan, Brent S. Pedersen, Miriam J. Rodrigues, Amy Lacroix, Harriet Dashnow, Mark M. Davis

المصدر: Genome biology. 23(1)

مصطلحات موضوعية: False discovery rate, Base pair, High-Throughput Nucleotide Sequencing, Computational biology, Sequence Analysis, DNA, Biology, DNA sequencing, symbols.namesake, k-mer, Mendelian inheritance, symbols, Microsatellite, Reference genome, Sequence (medicine), Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f093a700c69e55757c865d25767389a7Test
https://pubmed.ncbi.nlm.nih.gov/36517892Test

المؤلفون: Alice, Theadom, Miriam, Rodrigues, Annemarei, Ranta, Gemma, Poke, Donald, Love, Kelly, Jones, Braden Te, Ao, Graeme, Hammond-Tooke, Priya, Parmar, Gina, O'Grady, Richard, Roxburgh

المصدر: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 31(6)

مصطلحات موضوعية: Adult, Muscular Diseases, Depression, Surveys and Questionnaires, Quality of Life, Humans, Anxiety, Anxiety Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::62f9d1d8abbb2f7b65bfff29d5017318Test
https://pubmed.ncbi.nlm.nih.gov/34837601Test

المؤلفون: Teddy Y. Wu, Henry Houlden, Zoe Dyer, Rachael W. Taylor, Wai Yan Yau, Andrea Cortese, Sarah J. Beecroft, Roisin Sullivan, Stuart Mossman, Richard Roxburgh, Ruth Leadbetter, Luciana Pelosi, Nigel G. Laing, Mary M. Reilly, Tim J. Anderson, James C. Cleland, Eoin Mulroy, Gianina Ravenscroft, Miriam Rodrigues

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Native Hawaiian or Other Pacific Islander, Cerebellar Ataxia, Bilateral Vestibulopathy, geography.island, Population, Biology, Cook island, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Allele, Replication Protein C, education, Alleles, Genetic testing, Aged, Genetics, geography, education.field_of_study, medicine.diagnostic_test, Cerebellar ataxia, Haplotype, Middle Aged, Founder Effect, Pedigree, 030104 developmental biology, Female, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Founder effect, Reports

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3b2b47d35b674fb6cff1e60d1e3a39Test
https://pubmed.ncbi.nlm.nih.gov/32851396Test

المؤلفون: Tanya Stojkovic, Thierry Maisonobe, Henry Houlden, Stefano Tozza, Riccardo Currò, Wai Yan Yau, Zoe Dyer, Stephan Züchner, Nigel G. Laing, Lea Leonardis, Paola Giunti, Phillipa J. Lamont, Gilbert J Thomas-Black, Roisin Sullivan, Wilson Marques, Stephanie Efthymiou, Salvatore Rossi, Patrick F. Chinnery, Andrea Cortese, Sarah J. Beecroft, Andrew Chancellor, Diego Kaski, Menelaos Pipis, Richard Roxburgh, Pedro J. Tomaselli, Gianina Ravenscroft, Matilde Laura, Alexander M. Rossor, Alejandro Horga, Cristina Tassorelli, James M. Polke, Adolfo M. Bronstein, Yann Péréon, Giulia Mallucci, Mary M. Reilly, Silvia Colnaghi, Rita Horvath, Stuart Mossman, Zane Jaunmuktane, Nicholas W. Wood, Grazia Devigili, Cécile Cauquil

المساهمون: Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository, Tozza, Stefano [0000-0002-9672-4577], Rossor, Alexander M [0000-0003-4648-2896], Horga, Alejandro [0000-0002-2120-2213]

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Cerebellum, Ataxia, Cerebellar Ataxia, repeat expansion, cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), 03 medical and health sciences, 0302 clinical medicine, Oscillopsia, sensory neuropathy, chronic cough, medicine, Humans, Letters to the Editor, Vestibular Neuronitis, Aged, Aged, 80 and over, Neurologic Examination, Vestibular areflexia, Cerebellar ataxia, Reflex, Abnormal, business.industry, Dysautonomia, Peripheral Nervous System Diseases, Original Articles, Syndrome, Middle Aged, medicine.disease, Bilateral vestibulopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, RFC1, Sensation Disorders, Female, Neurology (clinical), medicine.symptom, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b621364d74ac06a1f4907a87bf4d5cTest
https://pubmed.ncbi.nlm.nih.gov/32949124Test

المؤلفون: L. Pelosi, L. Wing, E. Mulroy, Andrew Chancellor, Richard Roxburgh, Ruth Leadbetter, Stuart Mossman, Teddy Y. Wu, Dean Kilfoyle

المصدر: European Journal of Neurology. 25:659-665

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Cerebellar Ataxia, Bilateral Vestibulopathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Peripheral Nerves, Aged, Ultrasonography, Vestibular areflexia, Anatomy, Cross-Sectional, Cerebellar ataxia, business.industry, Ultrasound, Peripheral Nervous System Diseases, Reflex, Vestibulo-Ocular, Syndrome, Middle Aged, medicine.disease, Bilateral vestibulopathy, Axons, Healthy Volunteers, Ganglion, Peripheral, 030104 developmental biology, medicine.anatomical_structure, Neurology, Sensation Disorders, Upper limb, Female, Neurology (clinical), medicine.symptom, Abnormality, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2397b1a39f9a632261172555309d395dTest
https://doi.org/10.1111/ene.13563Test

المؤلفون: Kelly Jones, Joshua Burns, Alice Theadom, Richard Roxburgh, Erin MacAulay, Gina O’Grady, Miriam Rodrigues, Moneeta Pal, Scott Denton, Ronelle Baker, Braden TE Ao

المصدر: BMJ Open
BMJ Open, Vol 9, Iss 6 (2019)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neuromuscular disease, Epidemiology, cmt, Population, Prevalence, Disease, 03 medical and health sciences, Tooth disease, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Health care, medicine, Humans, 030212 general & internal medicine, Genetic Testing, Age of Onset, education, Child, education.field_of_study, business.industry, Medical record, Research, registries, General Medicine, Middle Aged, Patient Acceptance of Health Care, medicine.disease, Medicine, Population Health Management, Female, business, hereditary neuropathy, 030217 neurology & neurosurgery, Demography, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15f21e51e93ff49d76438727441892cTest
https://pubmed.ncbi.nlm.nih.gov/31203252Test

المؤلفون: Richard Roxburgh, Shaun R. Seaman, Ernest Willoughby

المساهمون: Roxburgh, Richard [0000-0002-8930-7003], Apollo - University of Cambridge Repository

المصدر: Multiple Sclerosis Journal-Experimental, Translational and Clinical

مصطلحات موضوعية: medicine.medical_specialty, Letter, business.industry, Multiple sclerosis, MEDLINE, 32 Biomedical and Clinical Sciences, macromolecular substances, medicine.disease, Cellular and Molecular Neuroscience, Internal medicine, 3209 Neurosciences, medicine, Neurology (clinical), Longitudinal cohort, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d475bfa81cd62fd93bd04d3feaeabae9Test
https://doi.org/10.1177/2055217320927421Test