Zobrazeno 1 - 10
of 334
pro vyhledávání: '"Pilar Alvarez"'
Autor:
Nathan Dwarshuis, Divya Kalra, Jennifer McDaniel, Philippe Sanio, Pilar Alvarez Jerez, Bharati Jadhav, Wenyu (Eddy) Huang, Rajarshi Mondal, Ben Busby, Nathan D. Olson, Fritz J. Sedlazeck, Justin Wagner, Sina Majidian, Justin M. Zook
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Despite the growing variety of sequencing and variant-calling tools, no workflow performs equally well across the entire human genome. Understanding context-dependent performance is critical for enabling researchers, clinicians, and develope
Externí odkaz:
https://doaj.org/article/cea87d7d5cfe495988b6700aa70955a2
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Parkinson’s disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is in-part because previous genetic st
Externí odkaz:
https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024)
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a
Externí odkaz:
https://doaj.org/article/17599c960b3547c8b258745f95626779
Autor:
Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)
Abstract Neurodegeneration with brain iron accumulation (NBIA) represents a group of neurodegenerative disorders characterized by abnormal iron accumulation in the brain. In Parkinson’s Disease (PD), iron accumulation is a cardinal feature of degen
Externí odkaz:
https://doaj.org/article/a74e40ce5b164c6c979708ea36164d99
Autor:
Hampton L. Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco, Alina Jama, Amica Corda Müller-Nedebock, Ana-Luisa Gil-Martinez, Anastasia Illarionova, Anni Moore, Bernabe I. Bustos, Bharati Jadhav, Brook Huxford, Catherine Storm, Clodagh Towns, Dan Vitale, Devina Chetty, Eric Yu, Francis P. Grenn, Gabriela Salazar, Geoffrey Rateau, Hirotaka Iwaki, Inas Elsayed, Isabelle Francesca Foote, Zuné Jansen van Rensburg, Jonggeol Jeff Kim, Jie Yuan, Julie Lake, Kajsa Brolin, Konstantin Senkevich, Lesley Wu, Manuela M. X. Tan, María Teresa Periñán, Mary B. Makarious, Michael Ta, Nikita Simone Pillay, Oswaldo Lorenzo Betancor, Paula R. Reyes-Pérez, Pilar Alvarez Jerez, Prabhjyot Saini, Rami al-Ouran, Ramiya Sivakumar, Raquel Real, Regina H. Reynolds, Ruifneg Hu, Shameemah Abrahams, Shilpa C. Rao, Tarek Antar, Thiago Peixoto Leal, Vassilena Iankova, William J. Scotton, Yeajin Song, Andrew Singleton, Mike A. Nalls, Sumit Dey, Sara Bandres-Ciga, Cornelis Blauwendraat, Alastair J. Noyce, on behalf of The International Parkinson Disease Genomics Consortium (IPDGC) and The Global Parkinson’s Genetics Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-10 (2023)
Abstract Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources
Externí odkaz:
https://doaj.org/article/57a3fdc13f154a00b12dac9426ff5108
Autor:
Anna Weiser, Aurélie Hermant, Flavien Bermont, Federico Sizzano, Sonia Karaz, Pilar Alvarez-Illera, Jaime Santo-Domingo, Vincenzo Sorrentino, Jerome N. Feige, Umberto De Marchi
Publikováno v:
Redox Biology, Vol 64, Iss , Pp 102759- (2023)
Regulation of mitochondrial redox balance is emerging as a key event for cell signaling in both physiological and pathological conditions. However, the link between the mitochondrial redox state and the modulation of these conditions remains poorly d
Externí odkaz:
https://doaj.org/article/a579efc55ff94776a164adcc0e5fb71f
Autor:
Hampton L. Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco, Alina Jama, Amica Corda Müller-Nedebock, Ana-Luisa Gil-Martinez, Anastasia Illarionova, Anni Moore, Bernabe I. Bustos, Bharati Jadhav, Brook Huxford, Catherine Storm, Clodagh Towns, Dan Vitale, Devina Chetty, Eric Yu, Francis P. Grenn, Gabriela Salazar, Geoffrey Rateau, Hirotaka Iwaki, Inas Elsayed, Isabelle Francesca Foote, Zuné Jansen van Rensburg, Jonggeol Jeff Kim, Jie Yuan, Julie Lake, Kajsa Brolin, Konstantin Senkevich, Lesley Wu, Manuela M. X. Tan, María Teresa Periñán, Mary B. Makarious, Michael Ta, Nikita Simone Pillay, Oswaldo Lorenzo Betancor, Paula R. Reyes-Pérez, Pilar Alvarez Jerez, Prabhjyot Saini, Rami al-Ouran, Ramiya Sivakumar, Raquel Real, Regina H. Reynolds, Ruifneg Hu, Shameemah Abrahams, Shilpa C. Rao, Tarek Antar, Thiago Peixoto Leal, Vassilena Iankova, William J. Scotton, Yeajin Song, Andrew Singleton, Mike A. Nalls, Sumit Dey, Sara Bandres-Ciga, Cornelis Blauwendraat, Alastair J. Noyce, on behalf of The International Parkinson Disease Genomics Consortium (IPDGC) and The Global Parkinson’s Genetics Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/aedc013013b246b794213b921abd6e42
Autor:
Hongfei Ji, Anthony D Fouad, Shelly Teng, Alice Liu, Pilar Alvarez-Illera, Bowen Yao, Zihao Li, Christopher Fang-Yen
Publikováno v:
eLife, Vol 10 (2021)
Neural circuits coordinate with muscles and sensory feedback to generate motor behaviors appropriate to an animal’s environment. In C. elegans, the mechanisms by which the motor circuit generates undulations and modulates them based on the environm
Externí odkaz:
https://doaj.org/article/e0c7a0c65bd64110b80db7a5d413f407
Autor:
Paloma García-Casas, Pilar Alvarez-Illera, Eva Gómez-Orte, Juan Cabello, Rosalba I. Fonteriz, Mayte Montero, Javier Alvarez
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
We have reported recently that the mitochondrial Na+/Ca2+ exchanger inhibitor CGP37157 extends lifespan in Caenorhabditis elegans by a mechanism involving mitochondria, the TOR pathway and the insulin/IGF1 pathway. Here we show that CGP37157 signific
Externí odkaz:
https://doaj.org/article/8861bf1cb92c4462aad7829784446e20
Publikováno v:
Frontiers in Psychology, Vol 12 (2021)
In the international context of a progress toward more inclusive educational systems and practices, the role of Special Education teachers is being transformed. From an inclusive perspective, these professionals increasingly support students and thei
Externí odkaz:
https://doaj.org/article/fd3e5ae48d384e02bd074b480e10f56b