Zobrazeno 1 - 10
of 245
pro vyhledávání: '"J. Lubbe"'
Autor:
S. Pommé, H. Stroh, J. Paepen, R. Van Ammel, M. Marouli, T. Altzitzoglou, M. Hult, K. Kossert, O. Nähle, H. Schrader, F. Juget, C. Bailat, Y. Nedjadi, F. Bochud, T. Buchillier, C. Michotte, S. Courte, M.W. van Rooy, M.J. van Staden, J. Lubbe, B.R.S. Simpson, A. Fazio, P. De Felice, T.W. Jackson, W.M. Van Wyngaardt, M.I. Reinhard, J. Golya, S. Bourke, T. Roy, R. Galea, J.D. Keightley, K.M. Ferreira, S.M. Collins, A. Ceccatelli, M. Unterweger, R. Fitzgerald, D.E. Bergeron, L. Pibida, L. Verheyen, M. Bruggeman, B. Vodenik, M. Korun, V. Chisté, M.-N. Amiot
Publikováno v:
Physics Letters B, Vol 761, Iss C, Pp 281-286 (2016)
The hypothesis that proximity to the Sun causes variation of decay constants at permille level has been tested and disproved. Repeated activity measurements of mono-radionuclide sources were performed over periods from 200 days up to four decades at
Externí odkaz:
https://doaj.org/article/c8b07377d9cf4feea55e9ca8b5b8a631
Autor:
D. S. Lubbe, J. Lubbe
Publikováno v:
In die Skriflig, Vol 25, Iss 4, Pp 553-562 (1991)
As a result of the presbyterial system of church government of the Reformed Church in South Africa (Gereformeerde Kerke in Suid-Afrika), very little information on the financial matters of the church is available. Hardly any research has been underta
Externí odkaz:
https://doaj.org/article/90ce29e896f34f2695f38e7e37808f8b
Autor:
Ignacio J, Keller Sarmiento, Mitra, Afshari, Lisa, Kinsley, Vincenzo, Silani, Rizwan S, Akhtar, Tanya, Simuni, Steven J, Lubbe, Dimitri, Krainc, Niccolò E, Mencacci
Publikováno v:
Parkinsonism & Related Disorders. 104:88-90
Bi-allelic mutations in FBXO7 are classically associated with a complex phenotype, known as parkinsonian-pyramidal syndrome. We describe two brothers affected by typical early onset Parkinson's disease (EOPD), who carry novel compound heterozygous va
Autor:
Jing, Hu, Cheryl H, Waters, Dan, Spiegelman, Edward A, Fon, Eric, Yu, Farnaz, Asayesh, Lynne, Krohn, Prabhjyot, Saini, Roy N, Alcalay, Sharon, Hassin-Baer, Ziv, Gan-Or, Dimitri, Krainc, BaoRong, Zhang, Bernabe I, Bustos, Steven J, Lubbe
Publikováno v:
Neurobiology of Aging. 119:136-138
Recessive mutations in PRKN, PARK7, and PINK1 are established causes of early-onset Parkinson's disease (EOPD). Previous studies have interrogated the role of heterozygous variants in these genes but mainly focused on rare (minor allele frequency [MA
Autor:
Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe I Bustos, Luigi M Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garavaglia, Daniele Ghezzi
ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly factors or structural subunits are associated with complex V deficiency, typically char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc0a70a573e994c73106c4c132d31db
https://hdl.handle.net/11577/3470500
https://hdl.handle.net/11577/3470500
Publikováno v:
Journal of Orthopaedic Trauma. 35:s33-s36
SUMMARY Volar fixed-angle plate fixation is a commonly used treatment modality for distal radius fractures. However, not all fracture patterns are amenable to this type of fixation strategy. In this article, we review pertinent anatomy and radiograph
Autor:
Yvette C. Wong, Soojin Kim, Jasmine Cisneros, Catherine G. Molakal, Pingping Song, Steven J. Lubbe, Dimitri Krainc
Publikováno v:
The Journal of cell biology. 221(10)
Lysosomes are highly dynamic organelles implicated in multiple diseases. Using live super-resolution microscopy, we found that lysosomal tethering events rarely undergo lysosomal fusion, but rather untether over time to reorganize the lysosomal netwo
Autor:
Lena Sagi-Dain, Martje G. Pauly, Chiung C. Chen, Niccolo E. Mencacci, Shey Lin Wu, Inge A. Meijer, Aida M. Bertoli-Avella, Krishna Kumar Kandaswamy, Steven J. Lubbe, Celeste Panteghini, Wim Mandemakers, Christine Klein, Nicolas Marotta, Katja Lohmann, Peter Bauer, Andrea A. Kühn, Baiba Lace, Vincenzo Bonifati, Tu Hsueh Yeh, Chin Song Lu, Miryam Carecchio, Antonio E. Elia, Christina Fevga, Yah Huei Wu-Chou, Yi Hsin Weng, Vera Tadic, Bradley Osterman, Marialuisa Quadri, Barbara Garavaglia, Simone Olgiati, Guido J. Breedveld, Jens Volkmann, Hsiu Chen Chang, Demy J.S. Kuipers
Publikováno v:
Annals of Neurology
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Annals of Neurology, 89(3), 485-497. John Wiley & Sons Inc.
Objective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonan
Autor:
C Michotte, S Courte, R Coulon, M Nonis, G Ratel, F J Maringer, R Brettner-Messler, T Dziel, A Listkowska, M W van Rooy, M J van Staden, J Lubbe, B Zimmerman
Publikováno v:
Metrologia. 60:06004
Main text Three new participations in the BIPM.RI(II)-K1.I-131 comparison have been added to the previous results and this has produced a revised value for the key comparison reference value (KCRV), calculated using the power-moderated weighted mean.
Autor:
Manju A. Kurian, Joanna M. Flowers, Kishore R. Kumar, Glenn Anderson, Sniya Sudhakar, Matej Skorvanek, Bernhard Haslinger, Kshitij Mankad, Martje E. van Egmond, Corien Verschuuren, Rauan Kaiyrzhanov, Nicholas W. Wood, Arianna Ferrini, Nardo Nardocci, Riccardo Berutti, Arcangela Iuso, Barbara Plecko, Juliane Winkelmann, Matias Wagner, P. Darveniza, Philippe Coubes, Arianna Tucci, Paulina Gonzalez-Latapi, Ryan L. Davis, Diane Demailly, Katy Barwick, Erik-Jan Kamsteeg, Kai Bötzel, Tomasz Kmieć, Ján Necpál, Giovanna Zorzi, Derek Burke, Sylvia Boesch, Dora Steel, Barbara Garavaglia, Steven J. Lubbe, Bernabé I. Bustos, Carolyn M. Sue, Chen Zhao, Meriel McEntagart, Stephen Tisch, Henry Houlden, Jan C. Koch, Robert Jech, Sarah Wiethoff, Michael Zech, Laura Cif, Niccolo E. Mencacci, Marina A. J. Tijssen, Suvasini Sharma, Kathryn J. Peall, Paul Gissen, Kathleen M. Gorman
Publikováno v:
Annals of Neurology. 88:867-877
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. Methods We un