Results 201 to 210 of about 88,260 (305)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

"Epileptic seizure code in the region of Madrid": A process-based healthcare network for the acute management of epileptic seizures. [PDF]

Epilepsia Open
García Morales I, Serratosa Fernández JM, Rein AG, Koochani NB, Alonso CF, Luján EA, García Ron A, Martínez AM.   +7 more
europepmc   +1 more source

Speech Biomarkers for Quantifying Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Dysarthria is one of the most common and disabling side effects of subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson's disease (PD). Stimulation often exacerbates speech dysfunction beyond the effects of PD progression, likely because of current spread to structures surrounding the STN.
Petr Krýže, Mário Sousa, Vojtěch Illner, Adriana Jorge, Matilde Castelli, Ines Debove, Andreia D. Magalhães, Julia Waskönig, Lenard Lachenmayer, Joan Philipp Michelis, Gerd Tinkhauser, Deborah Amstutz, Marie Elise Maradan‐Gachet, Katrin Petermann, Claudio Pollo, Tobias Nef, Paul Krack, Jan Rusz   +17 more
wiley   +1 more source

Prefrontal TRPM8 Receptor Modulates Epileptic Seizures via PKA/CREB Signaling Pathway in Mice. [PDF]

CNS Neurosci Ther
Huang JZ, Lu GF, Jiang YH, Guo Y, Lin ZY, Zhang Z, Geng F.   +6 more
europepmc   +1 more source

Hyperostosis frontalis interna: Observed patterns, prevalence, and dementia associations in older adults

The Anatomical Record, EarlyView.
Abstract Hyperostosis frontalis interna (HFI) is a frequently underrecognized condition characterized by overgrowth of the frontal endocranium, most commonly observed in post‐menopausal women. Although its etiology remains unclear, hormonal influences and a possible relationship with neurocognitive changes have been proposed.
Danielle Felsberg, Kira Morgan, Rickey‐Levon Burch, Madelyn Furr, Zachary Tyson, Steven Lesh   +5 more
wiley   +1 more source

Hyperammonaemia in Dogs Presenting with Acute Epileptic Seizures-More than Portosystemic Shunts. [PDF]

Animals (Basel)
Fors SM, Østergård Jensen S.
europepmc   +1 more source

Scoping literature review: Comparing MRI tractography methods for optic radiation analysis

The Anatomical Record, EarlyView.
Abstract Accurate tractography mapping of the optic radiations is essential to avoiding post‐operative visual field deficits in patients undergoing temporal lobe surgery. This literature review highlights the current landscape of MRI tractography methods that are used to delineate the optic radiations (ORs), with a particular focus on the anterior ...
Hriday Sahni, Cristina Schaurich, Lara Boyd, Claudia Krebs   +3 more
wiley   +1 more source

Validation of SeLECT score and its modification for predicting unprovoked epileptic seizures in patients after ischemic stroke. [PDF]

Medicine (Baltimore)
Janský P, Šrámková T, Reichl J, Vosko MS, Šťovíčková L, Olšerová A, Benešová K, Kmetonyová S, Paulasová-Schwabová J, Otáhal J, Marusič P, Vosko MR, Tomek A.   +12 more
europepmc   +1 more source

Exploring student perceptions of integrating mixed reality with cadaveric teaching in undergraduate neuroanatomy education: A qualitative study

Anatomical Sciences Education, EarlyView.
Abstract Mixed reality (MR) using head‐mounted displays provides three‐dimensional visualizations that have been suggested to enhance learning when used alongside conventional anatomy teaching in medical education. This study explored student perceptions of the integration of MR and traditional cadaveric learning, and their optimal delivery to support ...
Harpreet Kasbia, Rehman Ali Baig, Lydia Boynton, Fanny Mozu‐Simpson, Ally Fattal, Ben Clare, Puneet Sharma, Arthur Dalton, Celia Brown, Ana Baptista, Richard J. Pinder, Ali Rezaei Haddad, Amir H. Sam   +12 more
wiley   +1 more source