Zobrazeno 1 - 10
of 26
pro vyhledávání: '"P W, Friederich"'
Autor:
Rozanne C. de Veer, Maria C.B. van Hooff, Ellen Werner, Ulrich Beuers, Joost P.H. Drenth, Frans J.C. Cuperus, Bart van Hoek, Bart J. Veldt, Michael Klemt-Kropp, Suzanne van Meer, Robert C. Verdonk, Hajo J. Flink, Jan Maarten Vrolijk, Tom J.G. Gevers, Cyriel Y. Ponsioen, Martijn J. ter Borg, Khalida Soufidi, Femke Boersma, Hendrik J.M. de Jonge, Frank H.J. Wolfhagen, L.C. Baak, Susanne L. Onderwater, Jeroen D. van Bergeijk, Paul G. van Putten, Gijs J. de Bruin, Rob P.R. Adang, Maria N. Aparicio-Pages, Wink de Boer, Frank ter Borg, Hanneke van Soest, Harry L.A. Janssen, Bettina E. Hansen, Nicole S. Erler, Adriaan J. van der Meer, Sunje Abraham, Huseyin Aktas, Yasser A. Alderlieste, L. (Bert) C. Baak, Martine A.M.C. Baven-Pronk, A. (Sander) van der Beek, Frank C. Bekkering, Menno Beukema, Kirsten Boonstra, Pieter C.J. ter Borg, Paul J. Bus, Djuna L. Cahen, Marcel Cazemier, Lisette J.H. van Dam, Maaike J. Denters, Ludger S.M. Epping, Philip W. Friederich, Nicole F.M. van Gerven, Sven J. van den Hazel, Maria C. van Hooff, Daphne M. Hotho, Matthias C. Jurgens, J.(Netty) van Kemenade, Marjo J. Kerbert-Dreteler, Ingrid C.A.W. Konings, Sander de Kort, Edith M.M. Kuiper, Johan P.H. Kuyvenhoven, Leendert H. Oterdoom, Janne E. van Rooij, Robert Roomer, Johannes Schmidt-Böhmer, Stephan Schmittgens, Tim C.M.A. Schreuder, Jerome Sint Nicolaas, Stephan H.C. van Stiphout, Hans H.K. Thio, Merel M. Tielemans, Sigrid Vandebosch, J. Marleen de Vree, Elsemieke de Vries, Anne Vrieze, Laurens A. van der Waaij, Ulrike de Wit
Publikováno v:
JHEP Reports, Vol 6, Iss 8, Pp 101132- (2024)
Background & Aims: Although primary biliary cholangitis (PBC) is considered a rare disorder, accurate determination of its incidence and prevalence remains challenging due to limited comprehensive population-based registries. We aimed to assess the i
Externí odkaz:
https://doaj.org/article/b78f3031c746431b9a47676360ed92d8
Autor:
Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Publikováno v:
Rare, Vol 2, Iss , Pp 100040- (2024)
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a partic
Externí odkaz:
https://doaj.org/article/93c294e07b004efca6d7414223356227
Autor:
Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Abstract Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gen
Externí odkaz:
https://doaj.org/article/4f5342b87e7f4e589989796569d7e800
Publikováno v:
Journal of NeuroEngineering and Rehabilitation, Vol 19, Iss 1, Pp 1-13 (2022)
Abstract Background Restoring or improving seated stability after spinal cord injury (SCI) can improve the ability to perform activities of daily living by providing a dynamic, yet stable, base for upper extremity motion. Seated stability can be obta
Externí odkaz:
https://doaj.org/article/fa891fb0fedf4c4da9bdbc15b1cd50b2
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 4 (2023)
Spinal cord injury (SCI) can cause paralysis of trunk and hip musculature that negatively impacts seated balance and ability to lean away from an upright posture and interact fully with the environment. Constant levels of electrical stimulation of pe
Externí odkaz:
https://doaj.org/article/19787422272b4f5db1a25e45dfc0adc8
Autor:
Enrique Balderas, David R. Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin, Mitchell C. Parker, Colin T. Maguire, Scott Cho, Marta W. Szulik, Anna Bakhtina, Ryan D. Bia, Marisa W. Friederich, Timothy M. Locke, Johan L. K. Van Hove, Stavros G. Drakos, Yasemin Sancak, Martin Tristani-Firouzi, Sarah Franklin, Aylin R. Rodan, Dipayan Chaudhuri
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Mitochondrial complex I deficiency is frequent in congenital, neurologic and cardiovascular disease. Here the authors demonstrate that Complex I stimulates the turnover of a mitochondrial calcium channel, which becomes stabilized during Complex I def
Externí odkaz:
https://doaj.org/article/c2ef9f77a9ef4d22aad9d8b4d27239a7
Autor:
Danica Novacic, William Gahl, Johan Van Hove, Marisa W. Friederich, Dana Strode, Roxanne Van Hove
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100286- (2023)
Externí odkaz:
https://doaj.org/article/bb6bc6297ed5498686efcb246ca9a4b2
Publikováno v:
Solid Earth, Vol 12, Pp 2633-2669 (2021)
Based on recent results of AlpArray, we propose a new model of Alpine collision that involves subduction and detachment of thick (∼ 180 km) European lithosphere. Our approach combines teleseismic P-wave tomography and existing local earthquake tomo
Externí odkaz:
https://doaj.org/article/53c9102ec2f64b08995bcdba8da97fb8
Publikováno v:
Solid Earth, Vol 12, Pp 2671-2702 (2021)
We perform a teleseismic P-wave travel-time tomography to examine the geometry and structure of subducted lithosphere in the upper mantle beneath the Alpine orogen. The tomography is based on waveforms recorded at over 600 temporary and permanent bro
Externí odkaz:
https://doaj.org/article/160ad6be37534806918e0f46c512b355
Autor:
M. Paffrath, W. Friederich
Publikováno v:
Solid Earth, Vol 12, Pp 1635-1660 (2021)
We present an extensive dataset of highly accurate absolute travel times and travel-time residuals of teleseismic P waves recorded by the AlpArray Seismic Network and complementary field experiments in the years from 2015 to 2019. The dataset is inte
Externí odkaz:
https://doaj.org/article/d1c5c1e398a64c3e98c4d33e038b74f6