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1دورية أكاديمية
المؤلفون: Oleksandr Olifir, Claudia Moreau, Maxime Cadieux-Dion, Berge Minassian, Patrick Cossette, Simon Girard
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101513- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Vincent Zimmern, Berge Minassian
المصدر: Genes, Vol 15, Iss 2, p 171 (2024)
مصطلحات موضوعية: progressive myoclonic epilepsy, Unverricht-Lundborg disease, Lafora disease, acid ceramidase deficiency, myoclonic epilepsy with ragged red fibers, neuronal ceroid lipofuscinoses, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Alexandre Girard, Claudia Moreau, Jacques L. Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard
المصدر: PLoS ONE, Vol 18, Iss 9 (2023)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Vincent Zimmern, Berge Minassian, Christian Korff
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: genetic epilepsy, gene therapy, anti-sense oligonucleotide, ketogenic diet, channelopathy, molecular chaperone, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Peixiang Wang, Lori Israelian, Yunlin Xue, Siyuan Song, Liliana Attisano, Berge Minassian
المصدر: All Results Journals: Biol, Vol 7, Iss 3, Pp 28-33 (2016)
مصطلحات موضوعية: Lafora Disease, polyglucosan, glucose transport, Wnt pathway, autophagy, apoptosis, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Vincent Zimmern, Berge Minassian, Christian Korff
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: channelopathy, Neurology, ketogenic diet, anti-sense oligonucleotide, genetic epilepsy, Neurology. Diseases of the nervous system, Neurology (clinical), molecular chaperone, RC346-429, gene therapy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f185e2fab84ad4028c53e5a9b09e8e
https://pubmed.ncbi.nlm.nih.gov/35250833 -
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المؤلفون: Pascal Laforêt, Anders Oldfors, Edoardo Malfatti, John Vissing, Marie-Anne Colle, Jordi Duran, Matthew Gentry, Joan Guinovart, Thomas Hurley, Or Kakhlon, Thomas Krag, Hal Landy, Camilla B. Lilleør, Berge Minassian, Federico Mingozzi, Elaine Murphy, Richard Piercy, Monique Piraud, Vyas Ramanan, Mads Stemmerik, Christer Thomsen, Miguel Weil
المساهمون: Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), European Neuromuscular Centre, ENMC, This workshop was made possible by the financial support of the European Neuromuscular center (ENMC) and ENMC main sponsors, The organizers are grateful for the valuable support by the ENMC staff especially Managing Director Alexandra Breukel and Operational Manager Annelies Zittersteijn
المصدر: unknow
unknow, 2021, unknow, France. pp.466-477, ⟨10.1016/j.nmd.2021.01.010⟩
Laforêt, P, Oldfors, A, Malfatti, E, Vissing, J, Colle, M A, Duran, J, Gentry, M, Guinovart, J, Hurley, T, Kakhlon, O, Krag, T, Landy, H, Lilleør, C B, Minassian, B, Mingozzi, F, Murphy, E, Piercy, R, Piraud, M, Ramanan, V, Stemmerik, M, Thomsen, C, Weil, M & ENMC 251st workshop study group 2021, ' 251st ENMC international workshop : Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands ', Neuromuscular Disorders, vol. 31, no. 5, pp. 466-477 . https://doi.org/10.1016/j.nmd.2021.01.010
Neuromuscul Disordمصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, MEDLINE, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Article, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a112e235ca00e1f6b816663aea614a7b
https://hal.archives-ouvertes.fr/hal-03256437 -
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المؤلفون: Saima Kayani, Xin Chen, Souad Messahel, Veronica Edgar, Susan Iannaccone, Steven Gray, Berge Minassian, Benjamin Greenberg
المصدر: Molecular Genetics and Metabolism. 135:S65
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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