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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2025
Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigmsFereshteh Yarahmadi, Ali Shoiebi, Mohammad Shariati, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate SynthasePhilip Harrer, Magdalena Krygier, Martin Krenn, et al.
Human Genome Variation|April 16, 2016
Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's diseaseEva C Schulte, Alexander Kurz, Panagiotis Alexopoulos, et al.
Biological Psychiatry|April 15, 2008
Heritability of sleep electroencephalogramUrte Ambrosius, Sonja Lietzenmaier, Renate Wehrle, et al.
Stem Cell Research|September 9, 2023
Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12Enrica Zanuttigh, Ejona Rusha, Camille Peron, et al.
Sleep Medicine|November 15, 2016
Animal models of RLS phenotypesRichard P Allen, Nathan C Donelson, Byron C Jones, et al.
Scientific Reports|April 21, 2017
MEIS1 variant as a determinant of autonomic imbalance in Restless Legs SyndromeJérôme Thireau, Charlotte Farah, Nicolas Molinari, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Plos One|January 12, 2012
Variation within the Huntington's disease gene influences normal brain structureMark Mühlau, Juliane Winkelmann, Dan Rujescu, et al.
Neuropediatrics|July 21, 2022
ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral PalsyJana Švantnerová, Michal Minár, Silvia Radová, et al.
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