Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Alvarez Jerez P"'
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:
Abigail Miano-Burkhardt, Pilar Alvarez Jerez, Kensuke Daida, Sara Bandres Ciga, Kimberley J. Billingsley
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 4801 (2024)
Parkinson’s disease (PD) significantly impacts millions of individuals worldwide. Although our understanding of the genetic foundations of PD has advanced, a substantial portion of the genetic variation contributing to disease risk remains unknown.
Externí odkaz:
https://doaj.org/article/77e0a40417a94584abcfdd2a65644ac7
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
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 8100 (2021)
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations an
Externí odkaz:
https://doaj.org/article/c3ffd2f81dfb4a778ce1e48340fbbddf
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