Results 51 to 60 of about 291,872 (291)
Small RNA pathways in mammalian oocytes
FEBS Open Bio, EarlyView.Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...Petr Svoboda, Josef Pasulkawiley +1 more sourceLoss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice [PDF]
, 2011 Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly.Jackson, Ian J., Peter Branney, Rainger, Joe, Bardakjian, Tanya M, Sokhi, K., Pallotta, Rosanna, Koenig Rainer, Malcolm Fisher, McKie Lisa, Anita Wischmeijer, Fisher, M., Sérgio B. Sousa, Kishan Sokhi, Brunner, Han G, Mégarbané Andre, Fisher, Malcolm, Gillessen-Kaesbach, G., Sousa, Sérgio B., Bokhoven, J.H.L.M. van, Hennekam, Raoul C., Al-Gazali, L., Wischmeijer, Anita, FitzPatrick David R., Semerci, C. Nur, Andrea Superti Furga, Philippe Gautier, Ramos, Lina, Hennekam, Raoul, Bardakjian, T.M., Perry Paul, Semerci, C Nur, Pallotta Rosanna, van Beusekom Ellen, Ramos, L., Khan, Ayesha, Wieczorek, D, Lisa McKie, Ian J Jackson, Gillessen-Kaesbach Gabriele, Bicknell Louise, Saemah Zafar, Raoul Hennekam, Ferda Ozkinay, Elcioglu, Nursel, Fitzpatrick, David R, Adele S Schneider, Gillessen-Kaesbach, Gabriele Gertrud, Ramos Lina, Hennekam Raoul, Rosanna Pallotta, Lihadh Al-Gazali, Dagmar Wieczorek, Megarbane, A., Zafar, Saemah, van Bokhoven, H., Paul Perry, Rainer Koenig, Perry, P., Schneider, Adele S., Ian J. Jackson, Gautier Philippe, Semerci C. Nur, Gautier, P., C. Nur Semerci, Koenig, Rainer, Morrison, Harris, Gautier, Philippe, Bicknell, L., Al-Gazali Lihadh, Elcioglu Nursel, Saponari Anita, Furga, A.S., McKie, L., Han G Brunner, Ellen van Beusekom, Han G. Brunner, Sokhi Kishan, Zafar Saemah, Semerci, C.N., David Sexton, van Bokhoven, Hans, Gabriele Gillessen-Kaesbach, Sousa Sérgio B., Garavelli Livia, Ramsay, Jacqueline K, Lina Ramos, Schneider, Adele S, Ramsay Jacqueline K., Jackson Ian J., Rainger, J., Anita Saponari, FitzPatrick, D.R., Al-Gazali, Lihadh, Bicknell, Louise, Wieczorek, Dagmar, Elcioglu, N., Ayesha Khan, David R Fitzpatrick, Garavelli, Livia, Wieczorek, D., Jackson, Ian J, Sokhi, Kishan, Sexton, D., Jacqueline K Ramsay, Schneider, A.S., Harris Morrison, Adele S. Schneider, Hans van Bokhoven, Sexton David, Rainger Joe, Gillessen-Kaesbach, Gabriele, Beusekom, E. van, Furga, Andrea Superti, Brunner, Han G., Mégarbané, Andre, Wischmeijer, A., Wischmeijer Anita, Brunner, H.G., Tanya M Bardakjian, Pallotta, R., Hennekam, R., Branney Peter, Ozkinay, Ferda, Branney, Peter, Andre Mégarbané, Fisher Malcolm, Brunner Han G., FitzPatrick, David R., Morrison Harris, Bardakjian, Tanya M., Ozkinay, F., Khan, A., Sousa, S.B., Furga Andrea Superti, Jackson, I.J., Bokhoven, Hans van, David R. FitzPatrick, Özkınay, Ferda, Ozkinay Ferda, van Bokhoven Hans, Saponari, Anita, Jacqueline K. Ramsay, Garavelli, L., Tanya M. Bardakjian, Perry, Paul, Sexton, David, Nursel Elcioglu, Zafar, S., Bardakjian Tanya M., Khan Ayesha, Saponari, A., Branney, P., Sousa, Sérgio B, Sérgio B Sousa, van Beusekom, E., Louise Bicknell, Ramsay, Jacqueline K., Schneider Adele S., van Beusekom, Ellen, C Nur Semerci, Ramsay, J.K., Livia Garavelli, Wieczorek Dagmar, Joe Rainger, Beusekom, Ellen van, McKie, Lisa, Koenig, R., Morrison, H. +167 morecore +1 more sourceOverlap between latent cardiometabolic classes and metabolic syndrome.
, 2022 Overlap between latent cardiometabolic classes and metabolic syndrome.Ioannis Bakolis (581156), Nicholas Glozier (65444), Patricia Zunszain (4776357), Kaushalya Jayaweera (4776363), Khalida Ismail (846036), Sisira Siribaddana (319687), Athula Sumathipala (51506), Carmine Pariante (3583241), Fruhling Rijsdijk (571099), Matthew Hotopf (51508), Helena M. S. Zavos (12322501), Gayani Pannala (587131), Lisa Harber-Aschan (8491434) +12 morecore +1 more sourceValue of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods
A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators +26 morewiley +1 more sourceTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]
, 2013 Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S +134 morecore +1 more sourceVestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand +10 morewiley +1 more sourceExfoliation and pigmentary glaucoma – overlap syndrome [PDF]
, 2021 Introduction: Concomitant signs, characteristic for both pigmentary dispersion syndrome (PDS)
and exfoliation syndrome (XFS) can cause sudden IOP spike, and lead to optic nerve damage
progression and associated visual field (VF) loss.Taneva, M., Kirilova, Y., Vassileva, P.core