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1دورية أكاديمية
المؤلفون: Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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2دورية أكاديمية
المؤلفون: Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: Myotonic dystrophy, Registries, Clinical trials, Trial readiness, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0889-0Test; https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
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, Vol 9, Iss 6 (2019)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1157-7Test; https://doaj.org/toc/1750-1172Test
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5Nerve 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: J. Chad Hoyle, S. H. Subramony, John M. Flynn, Theresa A. Zesiewicz, Louise A. Corben, Christian Rummey, Katherine D. Mathews, George Wilmot, Lauren Seeberger, Antoine Duquette, David A. Lynch, Grace Yoon, Khalaf Bushara, Richard Roxburgh, Martin B. Delatycki, Susan Perlman, Christopher M. Gomez
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)مصطلحات موضوعية: 0301 basic medicine, Adult, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Scoliosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Prevalence, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Research Articles, business.industry, General Neuroscience, Incidence (epidemiology), Middle Aged, medicine.disease, Comorbidity, Natural history, 030104 developmental biology, Friedreich Ataxia, Cohort, Disease Progression, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery, Natural history study, RC321-571, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3033a09bc54dc45180d9480c5edd3dd6Test
http://europepmc.org/articles/PMC8164850Test -
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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