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)00331-8

مصطلحات 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

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: 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: Stuart Mossman, Richard Roxburgh, Ruth Leadbetter, Dean Kilfoyle, Luciana Pelosi, Purwa Joshi, Eoin Mulroy, Miriam J. Rodrigues

المصدر: Muscle & Nerve. 57:852-856

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Physiology, Population, Nerve ultrasound, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Peripheral nerve, Physiology (medical), medicine, education, education.field_of_study, business.industry, Ultrasound, Sensory loss, Peripheral, 030104 developmental biology, medicine.anatomical_structure, Upper limb, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c9231b346c1af60d5d6f531c1ad8815Test
https://doi.org/10.1002/mus.26012Test

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

المصدر: Neuroepidemiology. 52(3-4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Epidemiology, Population, Prevalence, Disease, 030501 epidemiology, Muscle disorder, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Muscular Diseases, Medicine, Humans, Muscular dystrophy, education, Child, Aged, Aged, 80 and over, education.field_of_study, Original Paper, business.industry, Medical record, Infant, Middle Aged, medicine.disease, Social deprivation, Child, Preschool, Population Surveillance, Female, Neurology (clinical), 0305 other medical science, business, 030217 neurology & neurosurgery, Demography, New Zealand

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b8ac4155df12251f56a787871da56Test
https://pubmed.ncbi.nlm.nih.gov/30661069Test

المؤلفون: Alessandra Ferlini, David Salgado, Velina Guergueltcheva, Olivia Schreiber-Katz, Zaïda Koeks, Grace McMacken, Hugh Dawkins, Jan Kirschner, Angela Stringer, Vedrana Milic Rasic, Teodora Chamova, Sophelia H. S. Chan, Hanns Lochmüller, Lawrence Korngut, Jan J.G.M. Verschuuren, Maggie C. Walter, Clemens Bloetzer, Jordi Díaz-Manera, Veronika Karcagi, Nina Barišić, Tunca Oznur, Andriy V. Shatillo, Ann Martin, Rasha El Sherif, Yi Dai, Kyriaki Kekou, Jaana Lahdetie, Andrea Klein, Rosário Santos, Holly L. Peay, Haluk Topaloglu, Elena Neagu, Maria E. Foncuberta, Richard Roxburgh, Kevin M. Flanigan, Miriam Rodrigues, Kate Bushby, Farhad Bayat, Petr Brabec, Christophe Béroud, Catherine L. Bladen, Jen Wang, Matthew I. Bellgard, Venkatarman Viswanathan, Svetlana Artemieva, Anna Lusakowska, Konstantina Kosma, Manuel Posada, Agnes Herczegfalvi, Soledad Monges, Anna Kostera-Pruszczyk, Dina Vojinovic, Volker Straub, Anna J. Roy, En Kimura, Janneke C. van den Bergen, Filippo Buccella, Leanne Lamont, Erik W. van Zwet, Craig Campbell, Oksana Pogoryelova, Eduard Gallardo, Marta Garami, Ayşe Karaduman

المساهمون: Unión Europea. Comisión Europea. 6 Programa Marco, Unión Europea. Comisión Europea. 7 Programa Marco, Medical Research Council (Reino Unido), Department of Medical Statistics and Bioinformatics, Leiden University Medical Center (LUMC), Neuropaediatrics, Garrahan National Paediatric Hospital, Centre for Comparative Genomics, Murdoch University, Ctr Comparat Genom, Department of Neurology, Ludwig-Maximilians-Universität München (LMU)-Friedrich-Baur-Institute, Department of Reproduction and Growth, UOL of Medical Genetics (University Hospital St Anna, Ferrara), University of Ferrara at St. Anna Hospital, Medicina Pediátrica y del Desarrollo, Instituto de Investigación en Enfermedades Raras (IIER)-Instituto de Salud Carlos III [Madrid] (ISC), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universiteit Leiden-Universiteit Leiden, Department of Biological and Environmental Engineering, Cornell University [New York], Università degli Studi di Ferrara = University of Ferrara (UniFE), Department of Embryology [Warsaw], Institute of Zoology [Warsaw], Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW)-Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Investigación en Enfermedades Raras (IIER), Fizyoterapi ve Rehabilitasyon

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280 <http://dx.doi.org/10.3233/JND-170280Test>
Paediatrics Publications

مصطلحات موضوعية: 0301 basic medicine, Research Report, Male, Neurology, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Cardiomyopathy, Disease, computer.software_genre, 0302 clinical medicine, Adrenal Cortex Hormones, Child, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Database, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Neuromuscular diseases, Treatment Outcome, Databases as Topic, Child, Preschool, Cohort, DMD, TREAT-NMD, Neurology (clinical), musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Socio-culturale, 610 Medicine & health, Adrenal Cortex Hormones/therapeutic use, Cross-Sectional Studies, Humans, Infant, Infant, Newborn, Muscular Dystrophy, Duchenne/epidemiology, Muscular Dystrophy, Duchenne/genetics, Muscular Dystrophy, Duchenne/therapy, Young Adult, 03 medical and health sciences, 360 Social problems & social services, medicine, education, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], business, computer, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649eb05eacc507eb3dd6be6b40bd7e5bTest
https://hdl.handle.net/20.500.12105/15573Test

المؤلفون: Luciana Pelosi, Dean Kilfoyle, Purwa Joshi, Eoin Mulroy, Richard Roxburgh, Ruth Leadbetter, Stuart Mossman, Miriam Rodrigues

المصدر: Clinical Neurophysiology. 129:e167-e168

مصطلحات موضوعية: Pathology, medicine.medical_specialty, education.field_of_study, Ataxia, business.industry, Ultrasound, Population, Sensory loss, Sensory Systems, Peripheral, medicine.anatomical_structure, Neurology, Sensory impairment, Peripheral nerve, Physiology (medical), Medicine, Upper limb, Neurology (clinical), medicine.symptom, business, education

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e55ddcb0972893952625b27b6dd8e8ebTest
https://doi.org/10.1016/j.clinph.2018.04.429Test

المؤلفون: Chris Higgins, Richard Roxburgh, Miriam Rodrigues, Rita Krishnamurthi, R. Bhattacharjee, Kelly Jones, Valery L. Feigin, Alice Theadom, Shiavnthi Balalla

المصدر: Neuroepidemiology. 43(3-4)

مصطلحات موضوعية: Male, education.field_of_study, medicine.medical_specialty, Pediatrics, Epidemiology, business.industry, Cross-sectional study, Population, MEDLINE, medicine.disease, Myotonic dystrophy, Muscular Dystrophies, Systematic review, Cross-Sectional Studies, Bias, medicine, Physical therapy, Prevalence, Humans, Female, Neurology (clinical), Muscular dystrophy, education, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26fb50cd5ab58767d60b6e8d77ffc815Test
https://pubmed.ncbi.nlm.nih.gov/25532075Test

المؤلفون: Stuart Mossman, Donald R. Love, Thomas D. Bird, Richard Roxburgh, Erik-Jan Kamsteeg, Koen L.I. van Gassen, Fern Ashton, David Eccles, Alice M. George, Renate Marquis-Nicholson, Rodney A. Lea

المصدر: Journal of Neurology, 260, 1286-94
Journal of Neurology, 260, 5, pp. 1286-94

مصطلحات موضوعية: Adult, Male, Ataxia, Genotype, Hereditary spastic paraplegia, Population, White People, Genomic disorders and inherited multi-system disorders [IGMD 3], Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, education, Genetics, education.field_of_study, Alanine, Paraplegin, Spastic Paraplegia, Hereditary, business.industry, Haplotype, Metalloendopeptidases, Valine, Middle Aged, Disease gene identification, medicine.disease, Magnetic Resonance Imaging, Penetrance, United Kingdom, Pedigree, Vestibular Diseases, Neurology, Mutation, Mutation (genetic algorithm), ATPases Associated with Diverse Cellular Activities, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::136fd281b6cafe0f98174c13dc75a3beTest
http://hdl.handle.net/2066/117826Test