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1
المؤلفون: Kristina Gutschmidt, Benedikt Schoser
المصدر: DNP – Die Neurologie & Psychiatrie. 23:58-67
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::332975d8213763d1fc26eab3017782f6Test
https://doi.org/10.1007/s15202-022-5546-8Test -
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المؤلفون: Kristina Gutschmidt, Corinna Wirner-Piotrowski, Natalia García Angarita, Federica Montagnese, Benedikt Schoser, Stephan Wenninger
المصدر: Neuromuscular Disorders.
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::81f87461d6ad5c41eade8f555e4bbf69Test
https://doi.org/10.1016/j.nmd.2023.05.002Test -
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المؤلفون: Kristina Gutschmidt, Benedikt Schoser
المصدر: DNP – Die Neurologie & Psychiatrie. 23:52-63
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::123b57ec7598f387757d3397d33a31f4Test
https://doi.org/10.1007/s15202-022-5507-2Test -
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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: Federica Montagnese, Kristina Gutschmidt, Benedikt Schoser, Corinna Wirner, Stephan Wenninger, Krisztina Einvag
المصدر: Journal of Neurology
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Weakness, Neurology, Late onset, Interruption of enzyme replacement therapy, Pulmonary function testing, 03 medical and health sciences, 0302 clinical medicine, Germany, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Prospective Studies, Adverse effect, Prospective cohort study, Pandemics, Original Communication, Clinical outcome, Glycogen Storage Disease Type II, SARS-CoV-2, business.industry, nutritional and metabolic diseases, Pompe disease, COVID-19, alpha-Glucosidases, Enzyme replacement therapy, Discontinuation, 030104 developmental biology, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Glycogen storage disease type 2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4be6222a8885032f34c2ff4a51a7df3eTest
https://doi.org/10.1007/s00415-021-10475-zTest -
6
المصدر: Journal of Neurology
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Neurology, Adolescent, media_common.quotation_subject, Audiology, Neurodegenerative, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, Reading (process), Germany, medicine, Humans, Myotonic Dystrophy, Cognitive Dysfunction, Prospective Studies, Prospective cohort study, Child, Neuroradiology, media_common, Original Communication, business.industry, Cognition, medicine.disease, Spelling, 030104 developmental biology, Cognitive impairment, IQ, Cohort, Neurology (clinical), Reading disorder, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ebe56a36504c595047fff886f31331eTest
http://europepmc.org/articles/PMC7880941Test -
7Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
المؤلفون: Guillaume Bassez, Baziel G.M. van Engelen, Hanns Lochmüller, Kristina Gutschmidt, Aura Cecilia Jimenez-Moreno, Benedikt Schoser, Darren G. Monckton, Stephan Wenninger, Fiona Hogarth, Sarah A. Cumming, Ferroudja Daidj, Kees Okkersen, Hans Knoop
المساهمون: APH - Mental Health, Medical Psychology
المصدر: Neurology: Genetics
article-version (Version of Record) 3
Neurology. Genetics, 7
Neurology: Genetics. Lippincott Williams and Wilkins
Neurology. Genetics, 7, 2مصطلحات موضوعية: medicine.medical_specialty, Clinical trials Randomized controlled (CONSORT agreement), medicine.medical_treatment, MEDLINE, Disease, Myotonic dystrophy, Article, 03 medical and health sciences, All Neuropsychology/Behavior, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Trial registration, Genetics (clinical), Depression (differential diagnoses), Muscle disease, 0303 health sciences, Walking test, business.industry, 030305 genetics & heredity, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Checklist, 3. Good health, Cognitive behavioral therapy, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7abe38598b83a3d21ac3bed8f865ebcTest
https://pubmed.ncbi.nlm.nih.gov/33884298Test