Results 181 to 190 of about 9,501 (200)

Monogenic variants in dystonia: an exome-wide sequencing study

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

Dystonia

Nature Reviews Disease Primers, 2018
Bettina Balint, Enza Maria Valente, Antonio Pisani   +2 more
exaly  

Dopa-responsive dystonia—clinical and genetic heterogeneity

Nature Reviews Neurology, 2015
Joseph Jankovic
exaly  

Phenomenology and classification of dystonia: A consensus update

Movement Disorders, 2013
Alberto Albanese, Mark Hallett, Joseph Jankovic   +2 more
exaly  

Mutations in GNAL cause primary torsion dystonia

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

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  

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Nature Communications, 2016
Karin Tuschl, Ningning Zhao, Michael A Simpson   +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