Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Victoria Biancavilla"'
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
Autor:
Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky
Publikováno v:
Brain
Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the peripheral nervous sy
Autor:
Victoria Biancavilla, A. Reghan Foley, Carsten G. Bönnemann, Maha S. Zaki, Rita Horvath, Sandra Donkervoort, Joseph G. Gleeson, Tobias B. Haack, Matthew Nalls, Chunyu Cai, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Lucia Laugwitz, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Erik-Jan Kamsteeg, Susan T. Iannaccone, Grace McMacken, Annemarie Fock, Nicol C. Voermans, Payam Mohassel, Veronka Horber, Hanns Lochmüller, Henry Houlden, Tanya J. Lehky, Molly Snyder, Riley M. McCarty, Minal S. Jain
Publikováno v:
Am J Med Genet A
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
Contains fulltext : 229372.pdf (Publisher’s version ) (Closed access) Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9a905427015a1435a6bd473ac4d8e4
https://doi.org/10.1002/ajmg.a.61765
https://doi.org/10.1002/ajmg.a.61765
Publikováno v:
Current Developments in Nutrition. 3:nzz050.OR13-05
OBJECTIVES: The purpose of this study was to assess how a school based nutrition education program in a low-income rural elementary school in upstate New York influenced families’ eating behaviors. METHODS: Students attending an elementary school i