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)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006599; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/daeca715cf1a4efcbbb8c9243f3fc41b

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

Relation: https://www.mdpi.com/2073-4425/15/2/171; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/c2b3faffa97642f1a97832b8f690a6c1

المؤلفون: Alexandre Girard, Claudia Moreau, Jacques L. Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard

المصدر: PLoS ONE, Vol 18, Iss 9 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10529579/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/956e9ff8d80848b89e75c23291967e13

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

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.829116/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/fe58e2972a54427aac0cb0b2322babde

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

Relation: http://arjournals.com/index.php/Biol/article/view/136; https://doaj.org/toc/2172-4784

URL الوصول: https://doaj.org/article/27e0a116f32d4713b954b9cf2225aff4

المؤلفون: Alexandre Girard, Claudia Moreau, Jacques Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e96171f8193f6da0ef7951903d8f2f3a
https://doi.org/10.1101/2022.12.13.22283363

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

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 Disord

مصطلحات 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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5f1e0263fe51f937a61f61b820ff3c7
https://doi.org/10.1016/j.ymgme.2021.11.164

المؤلفون: Berge Minassian, Evan Lewis, Robyn Whitney

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9781f78d27b3afd4fbaace4e81677c37
https://doi.org/10.1007/978-3-319-72168-2_96