Zobrazeno 1 - 10
of 20
pro vyhledávání: '"C. Bruels"'
Autor:
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
Abstract Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 1
Externí odkaz:
https://doaj.org/article/9c66bfaff84f41c59607be77930bfc87
Autor:
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise un
Externí odkaz:
https://doaj.org/article/35895711cd76476484b7067a5177046a
Autor:
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
Publikováno v:
Acta Neuropathologica. 145:479-496
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Autor:
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Publikováno v:
The American Journal of Human Genetics.
Autor:
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Publikováno v:
Pediatric Neurology, 141, 79-86. Elsevier Inc.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. Methods: We ascertained five individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64ad
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
Autor:
Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
Publikováno v:
The American Journal of Human Genetics
Am J Hum Genet
Am J Hum Genet
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23 individuals with genetically unsolved
Autor:
Craig Thorburn, Joanna Alfaro-Shigueto, CG Wilke, Matias Braccini, Craig D. H. Sherman, Mahmood S. Shivji, Christine C. Bruels, Charlene da Silva, Alejo Joaquin Irigoyen, Adam D. Miller, Jeffrey C. Mangel, David A. Ebert, Sebastian Schmidt-Roach, Juan M. Ezcurra, Clinton A. J. Duffy, Alicia C. J. Schmidt-Roach, Adam Barnett, A. J. Jaureguizar
Publikováno v:
Reviews in Fish Biology and Fisheries. 31:433-447
Cosmopolitan marine pelagic species display variable patterns of population connectivity among the world’s major oceans. While this information is crucial for informing management, information is lacking for many ecologically important species, inc
Autor:
Kimia Kahrizi, Tomáš Mráček, Hector Diaz-Maldonado, Maria Falkenberg, Safoora B. Syeda, Penelope E. Bonnen, Stanislav Kmoch, Peter B. Kang, Zuzana Korandová, Emily Hoberg, Bradley Peter, Lauren Brady, K. Nicole Weaver, Louis M. Kunkel, Alena Pecinová, Mark A. Tarnopolsky, Zsolt Szilagyi, Hossein Najmabadi, Meenakshi Singh, Ewen W. Sommerville, Sasigarn A. Bowden, Elicia Estrella, Kim L. McBride, Hans-Hilger Ropers, Grainne S. Gorman, Emma L. Blakely, Claes M. Gustafsson, Viktor Stránecký, Christine C. Bruels, Monika Oláhová, Sander Pajusalu, Carlos E. Prada, Jack J Collier, Katrin Õunap, Lynn Pais, Hana Hartmannová, Monica H. Wojcik, Robert W. Taylor, Anthony J. Bleyer
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Nature Communications
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here,
Autor:
A. Nascimento, C. Bruels, A. Codina, J. Milisenda, C. Li, L. Carrera-García, E. Estrella, J. Pijuan, J. Expósito-Escudero, S. Stafki, L. Martorell, H. Lidov, C. Ortez, F. Palau, B. Darras, C. Jou, L. Kunkel, J. Hoenicka, P. Kang, D. Natera-de Benito
Publikováno v:
Neuromuscular Disorders. 32:S113
Autor:
Bruno Lopes da Silva Ferrette, Mahmood S. Shivji, Cesar Martins, Danillo Pinhal, Christine C. Bruels, Otto Bismarck Fazzano Gadig, Rodrigo Rodrigues Domingues
Publikováno v:
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2020-12-12T02:10:22Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-09-01 Guy Harvey Ocean Foundation Save Our Seas Foundation Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Vagile, large-bodied m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18469cdc7023bf4c409c33d38971c1db