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1Nerve ultrasound detects abnormally small nerves in patients with spinal and bulbar muscular atrophy
المؤلفون: Luciana Pelosi, Avroneel Ghosh, Ruth Leadbetter, Sean Lance, Miriam Rodrigues, Richard Roxburgh
المصدر: Muscle & Nerve. 65:599-602
مصطلحات موضوعية: Motor Neurons, Muscular Atrophy, Spinal, Cellular and Molecular Neuroscience, Physiology, Ganglia, Spinal, Physiology (medical), Humans, Peripheral Nervous System Diseases, Bulbo-Spinal Atrophy, X-Linked, Neurology (clinical), Ultrasonography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb1040e4cf02a62d92068837a1e4c45Test
https://doi.org/10.1002/mus.27509Test -
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المؤلفون: Luciana Pelosi, Daniele Coraci, Eoin Mulroy, Ruth Leadbetter, Luca Padua, Richard Roxburgh
المصدر: MusclenerveREFERENCES. 67(1)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a6f47c1128963fb4e32953594143b85Test
https://pubmed.ncbi.nlm.nih.gov/36354069Test -
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المؤلفون: Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea
المساهمون: Schoser, B., Roberts, M., Byrne, B. J., Sitaraman, S., Jiang, H., Laforet, P., Toscano, A., Castelli, J., Diaz-Manera, J., Goldman, M., van der Ploeg, A. T., Bratkovic, D., Kuchipudi, S., Mozaffar, T., Kishnani, P. S., Sebok, A., Pestronk, A., Dominovic-Kovacevic, A., Khan, A., Koritnik, B., Tard, C., Lindberg, C., Quinn, C., Eldridge, C., Bodkin, C., Reyes-Leiva, D., Hughes, D., Stefanescu, E., SALORT-CAMPANA, E., Butler, E., Bouhour, F., Kim, G., Konstantinos Papadimas, G., Parenti, G., Bartosik-Psujek, H., Kushlaf, H., Akihiro, H., Lau, H., Pedro, H., Andersen, H., Amartino, H., Shiraishi, H., Kobayashi, H., Tarnev, I., Vengoechea, J., Avelar, J., Shin, J. -H., Cauci, J., Alonso-Perez, J., Janszky, J., Berthy, J., Cornelia, K., Gutschmidt, K., Claeys, K., Judit Molnar, M., Wencel, M., Tarnopolsky, M., Dimachkie, M., Tchan, M., Freimer, M., Longo, N., Vidal-Fernandez, N., Musumeci, O., Goker-Alpan, O., Deegan, P., Clemens, P. R., Roxburgh, R., Henderson, R., Hopkin, R., Sacconi, S., Fecarotta, S., Attarian, S., Wenninger, S., Dearmey, S., Hiwot, T., Burrow, T., Ruck, T., Sawada, T., Laszlo, V., Loscher, W., Chien, Y. -H., Pediatrics
المصدر: LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422Test(21)00331-8مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Glycogen Storage Disease Type II, business.industry, Population, alpha-Glucosidases, Enzyme replacement therapy, Placebo, Treatment Outcome, Double-Blind Method, SDG 3 - Good Health and Well-being, Internal medicine, Miglustat, medicine, Clinical endpoint, Humans, Respiratory function, Neurology (clinical), Adverse effect, education, business, Alglucosidase alfa, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca8d17d8a65ecd5fd078c358714459bTest
https://doi.org/10.1016/s1474-4422Test(21)00331-8 -
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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 -
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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 -
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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 -
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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 -
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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 -
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المؤلفون: Christian Rummey, Louise A. Corben, Martin Delatycki, George Wilmot, Sub H. Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
المصدر: Neurology.
مصطلحات موضوعية: Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae96347eebb26547918a9954881c7f33Test
https://pubmed.ncbi.nlm.nih.gov/35817567Test -
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المصدر: Neurological Sciences. 43:4575-4576
مصطلحات موضوعية: Muscular Atrophy, Spinal, Psychiatry and Mental health, Humans, Bulbo-Spinal Atrophy, X-Linked, Neurology (clinical), Dermatology, General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6311948bb9cd45cf03514c3e6bf9d5a7Test
https://doi.org/10.1007/s10072-022-06069-wTest