Results 91 to 100 of about 8,128 (220)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia [PDF]
, 2016 Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture.Magnus Nilsson, Lin, JP, Bhatia, Kailash P., Wragg, C, Boys, A, Nicholas Gutowski, Hilla Ben-Pazi, Joseph, A.P., Lumsden, Daniel, Adeline Ngoh, Chong, Wui K, Henry Houlden, Peters, GB, Patrick Rump, Morrogh, D, Sinnema, M., Bhatia, K.P., Wilson, Brian T, Camilo Toro, Segel, R, Margje Sinnema, Hagai Bergman, Gutowski, N., Sinnema, M, Mohammed, S.S., Ben-pazi, Hilla, Reuter, Miriam S, Heales, Simon J H, Chubb, Jonathan R., Peters, G. B., White, Susan M, Ng, J., Perez-dueñas, Belen, Wiethoff, S, Pall, Hardev, Peters, Gregory B, Wiethoff, Sarah, Perez-Dueñas, B., Agnel P Joseph, Pittman, A., Wieczorek, D, Limousin, P., Reis, A., Lumsden, D, Sege, Reeval, Rankin, J., Darin, N., Rankin, Julia, John M E Nichols, Carr, LJ, Ben-Pazi, H., Andre Reis, Julia Rankin, Hurst, Jane A, Joanne Ng, Dale, R. C., Gutowski, N, Darin, N, Christopher Wragg, Lin, J.-P., Alan Pittman, Papandreou, Apostolos, Gregory B Peters, Houlden, H, Limousin, P, Kaminska, Margaret, Wood, Nicholas W., Foulds, Nicola, Arkadir, David, Darin, Niklas,, Nilsson, M., Morrogh, D., Martin Smith, Nichols, J.M., Carr, L. J., Mencacci, NE, Darin, Niklas, Raymond, F. Lucy, Ngoh, Adeline, White, S. M., Lucinda J Carr, Dale, RC, Kamsteeg, Erik-jan, Mckee, Shane, Hurst, J. A., Peters, Gregory B., Ngoh, A., Barnicoat, Angela, Wieczorek, Dagmar, Jean-Pierre Lin, Gidon Winter, Arkadir, D., Wieczorek, D., Wragg, Christopher, Kamsteeg, E.-J., Hills, Alison, Peall, K. J., Joseph, A. P., Kurian, M. A., White, SM, Gutowski, Nicholas J., Brian T Wilson, Raymond, F. L., Gahl, W.A., Maya Topf, Wilson, BT, Kamsteeg, EJ, Topf, M, Heales, Simon J. H., Ng, J, Kamsteeg, E.J., Willemsen, MA, Morrogh, Deborah, Esther Meyer, Mencacci, Niccolo E, Ngoh, A, Nicolai, J., Lin, J-P, Heales, S.J.H., Bhatia, KP, Lin, J.P., Dale, Russell C, Toro, C., Amber Boys, Carss, K. J., NIHR BioResource Rare Diseases Consortium, ., Paul Gissen, Ben-Pazi, H, Nilsson, M, Chubb, J.R., White, S.M., Prabhakar, P, Chong, Wui K., McKee, S. A., Zvi Israel, Wui K Chong, Willemsen, Michel A, Bhate, Sanjay, Rump, Patrick, Hurst, JA, Wood, NW, Nilsson, Magnus, Carr, L.J., Carss, Keren J., Gahl, William A, Kaminska, M., Perez-Dueñas, B, Simon J H Heales, Serena Barral, Bhate, S, Nichols, John M. E., Nicola Foulds, Detelina Grozeva, Kathryn J Peall, Bhate, S., Boys, Amber, Peall, Kathryn J, Nicholas W Wood, Papandreou, A, Gahl, William A., Apostolos Papandreou, Chong, W.K., Limousin, Patricia, Winter, Gidon, Niccolo E Mencacci, Wood, N.W., Deciphering Developmental Disorders Study, ., Joseph, Agnel P, Bhatia, Kailash P, Willemsen, M.A., Barnicoat, A., Prab Prabhakar, Papandreou, A., Hurst, J.A., Mohammed, SS, Peall, K.J., Russell C Dale, McKee, S., Rankin, J, Gahl, W. A., Shibalik Misra, Rump, P., Grozeva, D, Grozeva, D., Reuter, M.S., Joseph, AP, Misra, S., Nakou, V, Toro, Camilo, Willemsen, Michel A., Pope, Simon, Sinnema, Margje, Barral, Serena, Winter, G, Kurian, MA, Wilson, Brian T.., Wood, N. W., Raymond, F.L., Barra, Serena, Shane McKee, Misra, S, Wilson, Brian T., Ng, Joanne, Angela Barnicoat, Segel, R., Mencacci, N.E., Bergman, Hagai, Chong, WK, Nichols, JM, Mohammed, Shekeeb S., Mohammed, S. S., Nakou, Vasiliki, White, Susan, Gissen, Paul, Joost Nicolai, Grozeva, Detelina, UK10K Consortium, ., Pope, S, Topf, Maya, Kaminska, M, Wood, Nicholas W, Kamsteeg, E-J, Chubb, Jonathan R, Patricia Limousin, Turnpenny, P., Mohammed, Shekeeb S, Barnicoat, A, Dagmar Wieczorek, Carss, K.J, Miriam S Reuter, White, Susan M., Vasiliki Nakou, Lumsden, D., Toro, C, Hardev Pall, Barral, S, Heales, SJ, Lin, Jean-pierre, Smith, M, Meyer, Esther, Carr, Lucinda J, Wiethoff, S., Reis, A, Smith, M., Jane A Hurst, Michel A Willemsen, Heales, S.J., David Arkadir, Simon Pope, Mencacci, N. E., Wilson, B. T., Bergman, H., Winter, G., Raymond, FL, Dale, R.C., Houlden, Henry, F Lucy Raymond, Israel, Z., Misra, Shibalik, Chong, W. K., Kurian, Manju A, Israel, Z, Bhatia, K. P., Mencacci, Niccolo E., Hurst, Jane A., Carss, KJ, Erik-Jan Kamsteeg, Disorders Deciphering Developmental,, Peall, Kathryn J., Israe, Zvi, Boys, A., Peter Turnpenny, Reuter, MS, Gahl, WA, Dale, Russell C., Joseph, A.P, William A Gahl, Belen Perez-Dueñas, Sanjay Bhate, Jonathan R Chubb, Carss, K.J., Smith, Martin, Alison Hills, Turnpenny, Peter, Wragg, C., Gissen, P., Keren J Carss, Nicolai, J, Pittman, A, Israel, Zvi, Reuter, M. S., Shekeeb S Mohammed, Sarah Wiethoff, Gutowski, Nicholas, Nicolai, Joost, Niklas Darin, Meyer, E, Nichols, J. M. E., Reis, Andre, Heales, Simon J.H., Gissen, P, Foulds, N, Foulds, N., Rump, Patrick; id_orcid, Prabhakar, Prab, Manju A Kurian, Nakou, V., Prabhakar, P., Carr, Lucinda J., Joseph, Agnel P., Topf, M., Nichols, John M.E., Hills, A., Pall, H., Willemsen, M. A., Barral, S., Rump, P, Turnpenny, Peter D., Arkadir, D, Nichols, John M E, Kurian, Manju A., Daniel Lumsden, Meyer, E., Reuter, Miriam S., Chubb, JR, Pittman, Alan, Reeval Segel, Peters, G.B., Disorders Deciphering Developmental, Kurian, M.A., Deborah Morrogh, Raymond, F Lucy, Turnpenny, P, Segel, Reeval, Susan M White, Margaret Kaminska, Heales, S. J. H., Hills, A, Carss, Keren J, Houlden, H., Bergman, H, Kurian, Manju, Nichols, J.M.E, McKee, S, Pope, S., Peall, KJ, Wilson, B.T., Kailash P Bhatia, Pall, H +348 morecore +1 more sourceSpeech and Deep Brain Stimulation in Parkinson's Disease, Essential Tremor, and Dystonia: A Systematic Review and Meta‐analysis
Movement Disorders, EarlyView.Abstract
Deep brain stimulation (DBS) effectively treats motor symptoms in movement disorders but often compromises speech through incompletely defined mechanisms. We conducted a PROSPERO‐registered systematic review and meta‐analysis of publications through August 2024 (CRD42024527738).Elina Tripoliti, Takashi Tsuboi, Michael T. Barbe, Mario Sousa, Julie Barkmeier‐Kraemer, Hannah Jergas, Gaia Arno, Nicole Buie, Mikayla Day, Petr Krýže, Jayson R. Nelson, Aaron E.L. Warren, Shervin Rahimpour, Jan Rusz, Paul Krack, Kristina Simonyan +15 morewiley +1 more sourceEpileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum
Movement Disorders Clinical Practice, EarlyView.Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña +10 morewiley +1 more sourcePolypharmacy among adolescents and adults with cerebral palsy in a clinical setting
PM&R, EarlyView.Abstract Background
Adolescents and adults with cerebral palsy often experience multimorbidity related to their condition, which primarily affects movement and posture but is also associated with pain, epilepsy, mood disorders, and other conditions. As such, these patients are often prescribed a range of medications to manage symptoms, thereby putting ...Caitlin Cassidy, Joshua C. Wiener, Karen Pratt, Laura Brunton +3 morewiley +1 more sourceManagement of Meige syndrome with bilateral trigeminal and facial nerves combing
Frontiers in NeurologyObjectiveMeige syndrome (MS) is an adult-onset segmental dystonia for which no satisfactory remedy currently exists. Our team developed a novel surgical approach called bilateral trigeminal/facial nerve combing (BTFC).Tingting Ying, Tingting Ying, Haopeng Wang, Haopeng Wang, Yinda Tang, Yinda Tang, Hua Zhao, Hua Zhao, Xiaomin Cai, Xiaomin Cai, Yiman Shen, Yiman Shen, Baimiao Wang, Baimiao Wang, Wanchun Zhu, Wanchun Zhu, Ping Zhou, Ping Zhou, Xin Zhang, Xin Zhang, Jun Zhong, Jun Zhong, Xinjun Wang, Xinjun Wang, Xudong Fu, Xudong Fu, Jin Zhu, Jin Zhu, Weituo Zhang, Shiting Li, Shiting Li +30 moredoaj +1 more sourceNovel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum
Clinical Genetics, EarlyView.We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre +9 morewiley +1 more source
