Results 61 to 70 of about 445,217 (392)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

The substantia Nigra pars compacta and temporal processing [PDF]

, 2006
The basal ganglia and cerebellum are considered to play a role in timing, although their differential roles in timing remain unclear. It has been proposed that the timing of short milliseconds-range intervals involves the cerebellum, whereas longer ...
Dirnberger, G., Frith, C.D., Jahanshahi, M., Jones, C.R.G.   +3 more
core  

The ducky^{2J} Mutation in Cacna2d2 Results in Reduced Spontaneous Purkinje Cell Activity and Altered Gene Expression [PDF]

, 2006
The mouse mutant ducky and its allele ducky^{2J} represent a model for absence epilepsy characterized by spike-wave seizures and cerebellar ataxia. These mice have mutations in Cacna2d2, which encodes the α₂δ-2 calcium channel subunit.
Davies, A, Dolphin, AC, Donato, R, Edwards, FA, Foucault, I, Koch, D, Nieto-Rostro, M, Page, KM, Rees, M, Wilkinson, T   +9 more
core   +1 more source

Relevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut, Romain Marignier, Mikael Cohen, Jeanne Benoit, Cassandre Landes‐Chateau, Elisabeth Maillart, Marion Cremoni, Barbara Seitz‐Polski, Anne‐Laurie Pinto, Pauline Dumez, Jérôme Honnorat, Christine Lebrun‐Frenay   +11 more
wiley   +1 more source

Consensus Paper: Towards a Systems-Level View of Cerebellar Function: the Interplay Between Cerebellum, Basal Ganglia, and Cortex

Cerebellum, 2016
Despite increasing evidence suggesting the cerebellum works in concert with the cortex and basal ganglia, the nature of the reciprocal interactions between these three brain regions remains unclear.
Daniele Caligiore, G. Pezzulo, G. Baldassarre, Andreea C. Bostan, P. Strick, K. Doya, R. Helmich, M. Dirkx, J. Houk, H. Jörntell, Ángel Lago-Rodríguez, J. Galea, R. Miall, Traian Popa, A. Kishore, P. Verschure, R. Zucca, I. Herreros   +17 more
semanticscholar   +1 more source

The MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo, Kilian Hett, Amy Cooper, Amy E. Brown, Jessica Iregui, Manus J. Donahue, M. Erik Landman, Italo Biaggioni, Margaret Bradbury, Cynthia Wong, David Stamler, Daniel O. Claassen   +11 more
wiley   +1 more source

Associations of baseline and longitudinal change in cerebellum volume with age-related changes in verbal learning and memory

NeuroImage, 2023
The cerebellum is involved in higher-order cognitive functions, e.g., learning and memory, and is susceptible to age-related atrophy. Yet, the cerebellum's role in age-related cognitive decline remains largely unknown. We investigated cross-sectional and
C'iana P. Cooper, Andrea T. Shafer, Nicole M. Armstrong, Yang An, Guray Erus, Christos Davatzikos, Luigi Ferrucci, Peter R. Rapp, Susan M. Resnick   +8 more
doaj  

Altered Cerebro-Cerebellar Effective Connectivity in New-Onset Juvenile Myoclonic Epilepsy

Brain Sciences, 2022
(1) Objective: Resting-state fMRI studies have indicated that juvenile myoclonic epilepsy (JME) could cause widespread functional connectivity disruptions between the cerebrum and cerebellum.
Laiyang Ma, Guangyao Liu, Pengfei Zhang, Jun Wang, Wenjing Huang, Yanli Jiang, Yu Zheng, Na Han, Zhe Zhang, Jing Zhang   +9 more
doaj   +1 more source

Regional distribution of the prostaglandin E2 receptor EP1 in the rat brain: accumulation in Purkinje cells of the cerebellum [PDF]

, 2005
Prostaglandin E2 (PGE2), is a major prostanoid produced by the activity of cyclooxygenases (COX) in response to various physiological and pathological stimuli. PGE2 exerts its effects by activating four specific E-type prostanoid receptors (EP1, EP2, EP3
Akundi, Ravi S., Candelario-Jalil, Eduardo, Fiebich, Bernd L., Hull, Michael, Ridelis, Ingrid, Slawik, Helen, Waschbisch, Anne   +6 more
core  

The Neuroanatomical Correlates of Training-Related Perceptuo-Reflex Uncoupling in Dancers [PDF]

, 2013
Sensory input evokes low-order reflexes and higher-order perceptual responses. Vestibular stimulation elicits vestibular-ocular reflex (VOR) and self-motion perception (e.g., vertigo) whose response durations are normally equal.
Hellyer, PJ, Nachev, P, Nigmatullina, Y, Seemungal, BM, Sharp, DJ   +4 more
core   +1 more source