Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kara M Place"'
Autor:
Xinyi Liang, Danielle Garand, Iason Keramidis, Julia Keith, Jun Chul Kim, Melanie A. Woodin, C. Sahara Khademullah, Afif J. Aqrabawi, Jessica C. Pressey, Simon Bedard, Kara M Place, Alicja Gasecka, Zahra Dargaei, Lorne Zinman, Janice Robertson, Jy Wei Yang, Daniel Côté, Yves De Koninck
Publikováno v:
Brain. 143:800-810
Amyotrophic lateral sclerosis is a fatal disease resulting from motor neuron degeneration in the cortex and spinal cord. Cortical hyperexcitability is a hallmark feature of amyotrophic lateral sclerosis and is accompanied by decreased intracortical i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c89b6eb8ef404180923f406dca70d7
https://doi.org/10.1093/brain/awaa034
https://doi.org/10.1093/brain/awaa034
Autor:
Steven Erwood, Elzbieta Hyatt, Madeleine Durbeej, Prabhpreet S Bassi, Dwi U. Kemaladewi, Dhekra Al-Basha, Kara M Place, Evgueni A. Ivakine, R. Marks, Ronald D. Cohn, Lindsay K, Steven A. Prescott, Rebekah Kember, Kinga I. Gawlik
Publikováno v:
Nature. 572:125-130
Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be beneficial to improve disease phenotypes. Here we report a mutation-independent strategy to upreg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5d4a484017822250760e2347c25f3f9
https://doi.org/10.1038/s41586-019-1430-x
https://doi.org/10.1038/s41586-019-1430-x
Autor:
Lindsay K, Kara M Place, Evgueni A. Ivakine, Dwi U. Kemaladewi, Ronald D. Cohn, Madeleine Durbeej, R. Marks, Elzbieta Hyatt, Kinga I. Gawlik, Prabhpreet S Bassi, Steven Erwood
Introductory paragraphIdentification of protective and/or pathogenic genetic modifiers provides important insight into the heterogeneity of disease presentations in individuals affected by neuromuscular disorders (NMDs), despite having well-defined p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd7398cb9d706c63e5f784b2a75a3e9
https://doi.org/10.1101/286500
https://doi.org/10.1101/286500
Autor:
Dwi U, Kemaladewi, Prabhpreet S, Bassi, Steven, Erwood, Dhekra, Al-Basha, Kinga I, Gawlik, Kyle, Lindsay, Elzbieta, Hyatt, Rebekah, Kember, Kara M, Place, Ryan M, Marks, Madeleine, Durbeej, Steven A, Prescott, Evgueni A, Ivakine, Ronald D, Cohn
Publikováno v:
Nature. 572(7767)
Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally complex genes. Targeting compensatory modifier genes could be beneficial to improve disease phenotypes. Here we report a mutation-independent strategy to upreg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05401e630c5ccf47f1b1374efb085b8b
https://pubmed.ncbi.nlm.nih.gov/31341277
https://pubmed.ncbi.nlm.nih.gov/31341277
Autor:
Amit G. Deshwar, Dwi U. Kemaladewi, Zahra Baghestani, Michael D. Wilson, Elzbieta Hyatt, Xinyi Zhu, Hui Yuan Xiong, Eleonora Maino, Brendan J. Frey, Maylynn Ding, Daniele Merico, Evgueni A. Ivakine, Kara M Place, Ronald D. Cohn, Prabhpreet S Bassi, Huayun Hou
Publikováno v:
Nature medicine. 23(8)
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71320d8410f7873296b4148a5bf268f6
https://pubmed.ncbi.nlm.nih.gov/28714989
https://pubmed.ncbi.nlm.nih.gov/28714989
Autor:
R. Marks, Kara M Place, Kinga I. Gawlik, Lindsay K, Dwi U. Kemaladewi, Ronald D. Cohn, S. Erwood, Madeleine Durbeej, E. Ivakine, Prabhpreet S Bassi, E. Hyatt
Publikováno v:
Neuromuscular Disorders. 28:S90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b8c5bbfc4e323e5e08521a77def2f9b
https://doi.org/10.1016/j.nmd.2018.06.237
https://doi.org/10.1016/j.nmd.2018.06.237