Zobrazeno 1 - 10
of 51
pro vyhledávání: '"R. Grosz"'
Autor:
J. L. Nowak, R. Grosz, W. Frey, D. Niedermeier, J. Mijas, S. P. Malinowski, L. Ort, S. Schmalfuß, F. Stratmann, J. Voigtländer, T. Stacewicz
Publikováno v:
Atmospheric Measurement Techniques, Vol 15, Pp 4075-4089 (2022)
The Fast Infrared Hygrometer (FIRH), employing open-path tunable diode laser absorption spectroscopy at the wavelengths near the 1364.6896 nm line, was adapted to perform contactless humidity measurements at the Turbulent Leipzig Aerosol Cloud Intera
Externí odkaz:
https://doaj.org/article/3871fc8bd42442f9bcf1eb7c48c25b25
Autor:
B. Stevens, S. Bony, D. Farrell, F. Ament, A. Blyth, C. Fairall, J. Karstensen, P. K. Quinn, S. Speich, C. Acquistapace, F. Aemisegger, A. L. Albright, H. Bellenger, E. Bodenschatz, K.-A. Caesar, R. Chewitt-Lucas, G. de Boer, J. Delanoë, L. Denby, F. Ewald, B. Fildier, M. Forde, G. George, S. Gross, M. Hagen, A. Hausold, K. J. Heywood, L. Hirsch, M. Jacob, F. Jansen, S. Kinne, D. Klocke, T. Kölling, H. Konow, M. Lothon, W. Mohr, A. K. Naumann, L. Nuijens, L. Olivier, R. Pincus, M. Pöhlker, G. Reverdin, G. Roberts, S. Schnitt, H. Schulz, A. P. Siebesma, C. C. Stephan, P. Sullivan, L. Touzé-Peiffer, J. Vial, R. Vogel, P. Zuidema, N. Alexander, L. Alves, S. Arixi, H. Asmath, G. Bagheri, K. Baier, A. Bailey, D. Baranowski, A. Baron, S. Barrau, P. A. Barrett, F. Batier, A. Behrendt, A. Bendinger, F. Beucher, S. Bigorre, E. Blades, P. Blossey, O. Bock, S. Böing, P. Bosser, D. Bourras, P. Bouruet-Aubertot, K. Bower, P. Branellec, H. Branger, M. Brennek, A. Brewer, P.-E. Brilouet, B. Brügmann, S. A. Buehler, E. Burke, R. Burton, R. Calmer, J.-C. Canonici, X. Carton, G. Cato Jr., J. A. Charles, P. Chazette, Y. Chen, M. T. Chilinski, T. Choularton, P. Chuang, S. Clarke, H. Coe, C. Cornet, P. Coutris, F. Couvreux, S. Crewell, T. Cronin, Z. Cui, Y. Cuypers, A. Daley, G. M. Damerell, T. Dauhut, H. Deneke, J.-P. Desbios, S. Dörner, S. Donner, V. Douet, K. Drushka, M. Dütsch, A. Ehrlich, K. Emanuel, A. Emmanouilidis, J.-C. Etienne, S. Etienne-Leblanc, G. Faure, G. Feingold, L. Ferrero, A. Fix, C. Flamant, P. J. Flatau, G. R. Foltz, L. Forster, I. Furtuna, A. Gadian, J. Galewsky, M. Gallagher, P. Gallimore, C. Gaston, C. Gentemann, N. Geyskens, A. Giez, J. Gollop, I. Gouirand, C. Gourbeyre, D. de Graaf, G. E. de Groot, R. Grosz, J. Güttler, M. Gutleben, K. Hall, G. Harris, K. C. Helfer, D. Henze, C. Herbert, B. Holanda, A. Ibanez-Landeta, J. Intrieri, S. Iyer, F. Julien, H. Kalesse, J. Kazil, A. Kellman, A. T. Kidane, U. Kirchner, M. Klingebiel, M. Körner, L. A. Kremper, J. Kretzschmar, O. Krüger, W. Kumala, A. Kurz, P. L'Hégaret, M. Labaste, T. Lachlan-Cope, A. Laing, P. Landschützer, T. Lang, D. Lange, I. Lange, C. Laplace, G. Lavik, R. Laxenaire, C. Le Bihan, M. Leandro, N. Lefevre, M. Lena, D. Lenschow, Q. Li, G. Lloyd, S. Los, N. Losi, O. Lovell, C. Luneau, P. Makuch, S. Malinowski, G. Manta, E. Marinou, N. Marsden, S. Masson, N. Maury, B. Mayer, M. Mayers-Als, C. Mazel, W. McGeary, J. C. McWilliams, M. Mech, M. Mehlmann, A. N. Meroni, T. Mieslinger, A. Minikin, P. Minnett, G. Möller, Y. Morfa Avalos, C. Muller, I. Musat, A. Napoli, A. Neuberger, C. Noisel, D. Noone, F. Nordsiek, J. L. Nowak, L. Oswald, D. J. Parker, C. Peck, R. Person, M. Philippi, A. Plueddemann, C. Pöhlker, V. Pörtge, U. Pöschl, L. Pologne, M. Posyniak, M. Prange, E. Quiñones Meléndez, J. Radtke, K. Ramage, J. Reimann, L. Renault, K. Reus, A. Reyes, J. Ribbe, M. Ringel, M. Ritschel, C. B. Rocha, N. Rochetin, J. Röttenbacher, C. Rollo, H. Royer, P. Sadoulet, L. Saffin, S. Sandiford, I. Sandu, M. Schäfer, V. Schemann, I. Schirmacher, O. Schlenczek, J. Schmidt, M. Schröder, A. Schwarzenboeck, A. Sealy, C. J. Senff, I. Serikov, S. Shohan, E. Siddle, A. Smirnov, F. Späth, B. Spooner, M. K. Stolla, W. Szkółka, S. P. de Szoeke, S. Tarot, E. Tetoni, E. Thompson, J. Thomson, L. Tomassini, J. Totems, A. A. Ubele, L. Villiger, J. von Arx, T. Wagner, A. Walther, B. Webber, M. Wendisch, S. Whitehall, A. Wiltshire, A. A. Wing, M. Wirth, J. Wiskandt, K. Wolf, L. Worbes, E. Wright, V. Wulfmeyer, S. Young, C. Zhang, D. Zhang, F. Ziemen, T. Zinner, M. Zöger
Publikováno v:
Earth System Science Data, Vol 13, Pp 4067-4119 (2021)
The science guiding the EUREC4A campaign and its measurements is presented. EUREC4A comprised roughly 5 weeks of measurements in the downstream winter trades of the North Atlantic – eastward and southeastward of Barbados. Through its ability to cha
Externí odkaz:
https://doaj.org/article/6703df461cd64f56bd185beffed7e06d
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Bianca R. Grosz, Igor Stevanovski, Sara Negri, Melina Ellis, Stephanie Barnes, Stephen Reddel, Steve Vucic, Garth A. Nicholson, Andrea Cortese, Kishore R. Kumar, Ira W. Deveson, Marina L. Kennerson
Publikováno v:
Journal of the Peripheral Nervous System. 27:120-126
Publikováno v:
Neurogenetics
The second most common form of Charcot-Marie-Tooth neuropathy (CMT), X-linked CMT type X1 (CMTX1), is caused by coding and non-coding mutations in the gap junction beta 1 (GJB1) gene. The non-coding GJB1 c.-103C > T mutation (NM_000166.5) has been re
Autor:
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Perez-Siles, Bianca R. Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby CY Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A. Nicholson, Steve Vucic, Mario A. Saporta, Marina L. Kennerson
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and 4 disease loci implicated i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e9424cf6d32b9af3e9f4ab2ce77f068
https://doi.org/10.1101/2022.08.16.504208
https://doi.org/10.1101/2022.08.16.504208
Autor:
Anthony N Cutrupi, Ramesh K Narayanan, Gonzalo Perez-Siles, Bianca R Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby C Y Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A Nicholson, Steve Vucic, Mario A Saporta, Marina L Kennerson
Publikováno v:
Brain : a journal of neurology.
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and four disease loci implicate
Autor:
Lyndal Henden, Bianca R. Grosz, Melina Ellis, Garth A. Nicholson, Marina Kennerson, Kelly L. Williams
Publikováno v:
Journal of human genetics. 68(1)
A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD to perform
Autor:
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073CT (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia.The splicing impact of c.5073CT was assessed using an in vit
Autor:
Anthony Antonellis, Melina Ellis, Garth A. Nicholson, Marina L. Kennerson, Kishore R. Kumar, Natasha Golovchenko, Bianca R. Grosz
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports
Scientific Reports
EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and a