Results 191 to 200 of about 156,674 (242)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Reply to Bosten and Franklin: Children's color qualia structure is similar to adults'. [PDF]

Proc Natl Acad Sci U S A
Moriguchi Y, Watanabe R, Sakata C, Zeleznikow-Johnston A, Wang J, Saji N, Tsuchiya N.   +6 more
europepmc   +1 more source

Beta Power Response After Levodopa Intake in Parkinson's Disease Patients With Chronic Sensing‐Enabled Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective In Parkinson's disease (PD), the power of beta oscillations (± 13–30 hertz [Hz]) from subthalamic nucleus (STN) local field potentials (LFPs) is associated with motor symptoms. Beta power can be used for adaptive deep brain stimulation (aDBS) algorithms based upon symptom fluctuations.
Martijn G.J. de Neeling, Bart J. Keulen, Mariëlle J. Stam, Deborah Hubers, Rob M.A. de Bie, Bernadette C.M. van Wijk, P. Rick Schuurman, Arthur W.G. Buijink, Martijn Beudel   +8 more
wiley   +1 more source

Flip of the Switch: Targeting GABA Dysregulation to Treat Nonseizure Comorbidities in Dravet Syndrome. [PDF]

Epilepsy Curr
Sherer M, Goldberg EM.
europepmc   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

Annals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring   +9 more
wiley   +1 more source

Editorial: Advancing neurodevelopmental disorder models with human iPSC and multi-omics integration. [PDF]

Front Neurosci
Afshar-Saber W, Metodieva V, D'Amore A.
europepmc   +1 more source

Gaining insight into adolescent vulnerability for social anxiety from developmental cognitive neuroscience. [PDF]

Dev Cogn Neurosci, 2014
Caouette JD, Guyer AE.
europepmc   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Adolescent White Matter Maturation Mediates Epigenetic Associations With Cognitive Development. [PDF]

Dev Neurobiol
Jensen D, Chen J, Turner JA, Stephen JM, Wang YP, Wilson TW, Calhoun VD, Liu J.   +7 more
europepmc   +1 more source

Turning Slowly Predicts Future Diagnosis of Parkinson's Disease: A Decade‐Long Longitudinal Analysis

Annals of Neurology, EarlyView.
Objective Wearable technology allows accurate measurement of turning while walking, with cross‐sectional studies indicating that difficulty turning presents even in preclinical phases of Parkinson's disease. The aim of our study was to quantify rate of change of turning performance in a cohort of older adults, and test whether turning decline can ...
Morad Elshehabi, Clint Hansen, Markus A. Hobert, Anna‐Katharina von Thaler, Kathrin Brockmann, Bhargav Tallapragada, Florian Metzger, Daniela Berg, Walter Maetzler, Brook Galna   +9 more
wiley   +1 more source