Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Mary B. Makarious"'
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:
Vanessa Pitz, Mary B. Makarious, Sara Bandres-Ciga, Hirotaka Iwaki, andMe Research Team, Andrew B. Singleton, Mike Nalls, Karl Heilbron, Cornelis Blauwendraat
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-10 (2024)
Abstract Although many rare variants have been reportedly associated with Parkinson’s disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. We assessed a total of 27
Externí odkaz:
https://doaj.org/article/00d7126da364460db8cd2857981d1321
Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
Autor:
Clodagh Towns, Madeleine Richer, Simona Jasaityte, Eleanor J. Stafford, Julie Joubert, Tarek Antar, Alejandro Martinez-Carrasco, Mary B. Makarious, Bradford Casey, Dan Vitale, Kristin Levine, Hampton Leonard, Caroline B. Pantazis, Laurel A. Screven, Dena G. Hernandez, Claire E. Wegel, Justin Solle, Mike A. Nalls, Cornelis Blauwendraat, Andrew B. Singleton, Manuela M. X. Tan, Hirotaka Iwaki, Huw R. Morris, the Global Parkinson’s Genetics Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic ar
Externí odkaz:
https://doaj.org/article/1f9f2390f82e440aa0932ccba0225cfc
Autor:
Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, Sylvie Delcambre, Elsa Leitão, Dongbing Lai, Semra Smajić, Avi Orr-Urtreger, Avner Thaler, Cornelis Blauwendraat, Arunabh Sharma, Mary B. Makarious, Jonggeol Jeff Kim, Julie Lake, Pegah Rahmati, Sandra Freitag-Wolf, Philip Seibler, Tatiana Foroud, Andrew B. Singleton, The International Parkinson Disease Genomics Consortium, Anne Grünewald, Frank Kaiser, Christine Klein, Michael Krawczak, Astrid Dempfle
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)
Abstract The effects of one genetic factor upon Parkinson’s disease (PD) risk may be modified by other genetic factors. Such gene-gene interaction (G×G) could explain some of the ‘missing heritability’ of PD and the reduced penetrance of known
Externí odkaz:
https://doaj.org/article/eab9e702433b4666b815d44862487080
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:
Anant Dadu, Vipul Satone, Rachneet Kaur, Sayed Hadi Hashemi, Hampton Leonard, Hirotaka Iwaki, Mary B. Makarious, Kimberley J. Billingsley, Sara Bandres‐Ciga, Lana J. Sargent, Alastair J. Noyce, Ali Daneshmand, Cornelis Blauwendraat, Ken Marek, Sonja W. Scholz, Andrew B. Singleton, Mike A. Nalls, Roy H. Campbell, Faraz Faghri
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-12 (2022)
Abstract The clinical manifestations of Parkinson’s disease (PD) are characterized by heterogeneity in age at onset, disease duration, rate of progression, and the constellation of motor versus non-motor features. There is an unmet need for the cha
Externí odkaz:
https://doaj.org/article/554c29a9a6ee40e0bc8913586c21005e
Autor:
Zhenhua Liu, Nannan Yang, Jie Dong, Wotu Tian, Lisa Chang, Jinghong Ma, Jifeng Guo, Jieqiong Tan, Ao Dong, Kaikai He, Jingheng Zhou, Resat Cinar, Junbing Wu, Armando G. Salinas, Lixin Sun, Mantosh Kumar, Breanna T. Sullivan, Braden B. Oldham, Vanessa Pitz, Mary B. Makarious, Jinhui Ding, Justin Kung, Chengsong Xie, Sarah L. Hawes, Lupeng Wang, Tao Wang, Piu Chan, Zhuohua Zhang, Weidong Le, Shengdi Chen, David M. Lovinger, Cornelis Blauwendraat, Andrew B. Singleton, Guohong Cui, Yulong Li, Huaibin Cai, Beisha Tang
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
2- arachidonoylglycerol (2-AG), an abundant endocannabinoid in the brain, regulates diverse neural functions. Here, the authors identified four loss-of-function mutations in dicylglycerol lipase β (DAGLB) from six patients with early onset Parkinson
Externí odkaz:
https://doaj.org/article/4a94e3b86d214217aab9a2b47dae2413
Autor:
Mary B. Makarious, Hampton L. Leonard, Dan Vitale, Hirotaka Iwaki, Lana Sargent, Anant Dadu, Ivo Violich, Elizabeth Hutchins, David Saffo, Sara Bandres-Ciga, Jonggeol Jeff Kim, Yeajin Song, Melina Maleknia, Matt Bookman, Willy Nojopranoto, Roy H. Campbell, Sayed Hadi Hashemi, Juan A. Botia, John F. Carter, David W. Craig, Kendall Van Keuren-Jensen, Huw R. Morris, John A. Hardy, Cornelis Blauwendraat, Andrew B. Singleton, Faraz Faghri, Mike A. Nalls
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-13 (2022)
Abstract Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deliver multimodal predictions of Pa
Externí odkaz:
https://doaj.org/article/bf993193034245da8c1471e3cf972739