Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jean Marie Girard"'
Autor:
Stephen W. Scherer, Peixiang Wang, Christopher P. Bennett, Xiaochu Zhao, Erica Tiberia, Elayne M. Chan, Mushtaq Ahmed, Atul Tyagi, Berge A. Minassian, Hannes Lohi, Jean Marie Girard, Cameron Ackerley, Salah Omer, Nela Pencea, Yan Liu, Julie Turnbull, Aruna Chakrabarty
Publikováno v:
Brain. 135:2684-2698
The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–Lundborg disease (onset after the age of 6 years) and Lafora disease. La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fcc22a0e9dc3c9d65cd9f209d89656
https://doi.org/10.1093/brain/aws205
https://doi.org/10.1093/brain/aws205
Autor:
N. Bécourt-Lhote, Jean Marie Girard, N. Rogez, A. Dekeyne, N. Ribeiro-Palha, Nancy Claude, Véronique Gervais
Publikováno v:
Toxicology Letters. 295:S111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d384bfb175e949394a11a37d53671bd
https://doi.org/10.1016/j.toxlet.2018.06.639
https://doi.org/10.1016/j.toxlet.2018.06.639
Autor:
Jean Marie Girard, Xiaochu Zhao, Vincent S. Tagliabracci, Wei Wang, Anna A. DePaoli-Roach, Antonio V. Delgado-Escueta, Berge A. Minassian, Julie Turnbull, Alexander V. Skurat, Peter J. Roach
Publikováno v:
Proceedings of the National Academy of Sciences. 104:19262-19266
Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of abnormally branched, insoluble glycogen-like polymers, form in neurons, muscle, liver, and othe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19211c60134c4d28ce5c24980a87ec6
https://doi.org/10.1073/pnas.0707952104
https://doi.org/10.1073/pnas.0707952104
Publikováno v:
Biochimie. 88:1961-1971
Lafora disease is a progressive myoclonus epilepsy with an early fatal issue. Two genes were identified thus far, the mutations of which cause the disease. The first one, EPM2A, encodes the consensus sequence of a protein tyrosine phosphatase. Its pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4388e8accbdf0b29daaf7fad8f7be299
https://doi.org/10.1016/j.biochi.2006.08.002
https://doi.org/10.1016/j.biochi.2006.08.002
Publikováno v:
Handbook of clinical neurology. 113
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3af80203ff51acd57326f141e80d7487
https://pubmed.ncbi.nlm.nih.gov/23622396
https://pubmed.ncbi.nlm.nih.gov/23622396
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::380a2a0de461d27eb44328c234810802
https://doi.org/10.1016/b978-0-444-59565-2.00043-5
https://doi.org/10.1016/b978-0-444-59565-2.00043-5
Autor:
Jean Marie Girard, Hannes Lohi, Julie Turnbull, Berge A. Minassian, Arman Draginov, Cátia M. Teixeira, Scellig S D Stone, Afra H. Wang, Paul W. Frankland, Christophe Blaszykowski, Xiao Chu Zhao, Cameron Ackerley, Peixiang Wang
Publikováno v:
Neurology. 79(1)
Neuronal distal axons have limited access to glucose, their myelin sheaths preventing direct interface with blood, and their axoplasms being at great distances from their cell bodies. Glycogen, the mammalian glucose store, is characterized by extreme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b187ac11eaf3d52c122df6a6ae520860
https://pubmed.ncbi.nlm.nih.gov/22622859
https://pubmed.ncbi.nlm.nih.gov/22622859
Autor:
Peixiang Wang, Terry Graham, Nela Pencea, Cameron Ackerley, Julie Turnbull, Xiaochu Zhao, Jean Marie Girard, Berge A. Minassian
Publikováno v:
Neurology. 76(19)
Glycogen is the largest soluble cytosolic macromolecule, containing up to 55,000 glucoses per molecule. It is formed by glycogen synthase (GS) and branching enzyme (BE), which acting coordinately lead to branching after every sixth glucose and ultima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a44a920765e5807100e97bbc00c3be1
https://pubmed.ncbi.nlm.nih.gov/21451149
https://pubmed.ncbi.nlm.nih.gov/21451149
Autor:
Alessandra Ruggieri, Berge A. Minassian, Tony Jianong Wang, Nela Pencea, Jean Marie Girard, Xiaochu Zhao, Cameron Ackerley, Alexander P. Kameka, Peixiang Wang, Arman Draginov, Julie Turnbull
Publikováno v:
Annals of neurology. 68(6)
Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, linear, poorly branched, and insoluble form of glycogen. Lafora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32878821d47cc7b7839f869ee4f2eaa6
https://pubmed.ncbi.nlm.nih.gov/21077101
https://pubmed.ncbi.nlm.nih.gov/21077101
Publikováno v:
Epilepsia. 50
Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3b6ba8a0a95a5b20f902007a11f481
https://pubmed.ncbi.nlm.nih.gov/19469843
https://pubmed.ncbi.nlm.nih.gov/19469843