Results 331 to 340 of about 81,579 (355)

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Nature Genetics, 2016
E. Meyer, K. Carss, J. Rankin, John M E Nichols, D. Grozeva, Agnel P Joseph, N. Mencacci, A. Papandreou, J. Ng, S. Barral, A. Ngoh, H. Ben-Pazi, Michel A Willemsen, D. Arkadir, A. Barnicoat, H. Bergman, S. Bhate, Amber Boys, N. Darín, N. Foulds, N. Gutowski, A. Hills, H. Houlden, Jane A Hurst, Z. Israel, M. Kaminska, P. Limousin, D. Lumsden, S. McKee, Shibalik Misra, Shekeeb S Mohammed, V. Nakou, J. Nicolai, Magnus Nilsson, H. Pall, Kathryn J. Peall, Gregory B Peters, P. Prabhakar, M. Reuter, P. Rump, R. Segel, M. Sinnema, Martin Smith, P. Turnpenny, Susan M White, D. Wieczorek, S. Wiethoff, Brian T. Wilson, G. Winter, C. Wragg, S. Pope, S. Heales, D. Morrogh, A. Pittman, Lucinda J Carr, B. Pérez-Dueñas, Jean-Pierre Lin, A. Reis, W. Gahl, C. Toro, K. Bhatia, Nicholas W. Wood, E. Kamsteeg, W. Chong, P. Gissen, M. Topf, Russell C. Dale, Jonathan R. Chubb, F. Raymond, M. Kurian   +69 more
semanticscholar   +1 more source

Monogenic variants in dystonia: an exome-wide sequencing study

Lancet Neurology, The, 2020
Michael Zech, Robert Jech, Matias Wagner
exaly  

A localized pallidal physiomarker in cervical dystonia

Annals of Neurology, 2017
W. Neumann, A. Horn, S. Ewert, J. Huebl, C. Brücke, C. Slentz, G. Schneider, A. Kühn   +7 more
semanticscholar   +1 more source

Dopa-responsive dystonia—clinical and genetic heterogeneity

Nature Reviews Neurology, 2015
Joseph Jankovic
exaly  

Mutations in GNAL cause primary torsion dystonia

Nature Genetics, 2012
Marta San Luciano, Anthony E Lang, Michelle E Ehrlich   +2 more
exaly  

Psychogenic Dystonia

Human Physiology, 2017
O. Shavlovskaya, A. Baidauletova
semanticscholar   +1 more source

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Nature Genetics, 2012
Saskia B Wortmann, Frédéric M Vaz, Lisenka E L M Vissers   +2 more
exaly  

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

Nature Genetics, 2001
Alexander Zimprich, Daniela D Berg, Juliane Winkelmann   +2 more
exaly  

The neural substrates of rapid-onset Dystonia-Parkinsonism

Nature Neuroscience, 2011
Rachel Fremont, Kamran Khodakhah
exaly  

Emerging concepts in the physiological basis of dystonia

Movement Disorders, 2013
Angelo Quartarone, Mark Hallett
exaly