Results 271 to 280 of about 212,558 (382)

Assembly of α4β2 Nicotinic Acetylcholine Receptors Assessed with Functional Fluorescently Labeled Subunits: Effects of Localization, Trafficking, and Nicotine-Induced Upregulation in Clonal Mammalian Cells and in Cultured Midbrain Neurons [PDF]

, 2003
Raad Nashmi, Mary E. Dickinson, Sheri McKinney, Mark Jareb, Cesar Labarca, Scott E. Fraser, Henry A. Lester   +6 more
openalex   +1 more source

Evidence of degraded representation of speech in noise, in the aging midbrain and cortex.

Journal of Neurophysiology, 2016
A. Presacco, J. Simon, S. Anderson
semanticscholar   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Artery of Percheron Infarction: Diagnostic and Clinical Insights From Two Cases. [PDF]

Cureus
Thomas AZ, Krishnan A, Joseph H, Sreekumar A, Jayachandran V, Mathew P.   +5 more
europepmc   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, EarlyView.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Reward and aversion in a heterogeneous midbrain dopamine system

Neuropharmacology, 2014
S. Lammel, B. Lim, R. Malenka
semanticscholar   +1 more source

Respiratory dysfunction and fatal apnea during pilocarpine‐induced status epilepticus

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is second only to sudden unexpected death in epilepsy as a cause of seizure‐related mortality. The progression of respiratory dysfunction during experimental SE remains poorly characterized. We investigated how pilocarpine‐induced SE affects respiration in mice.
Chengsan Sun, Rachel Spera, John M. Williamson, Suchitra Joshi, Bhavya Guduru, Harini Ganabady, Jaideep Kapur   +6 more
wiley   +1 more source

Whole-Brain Mapping of Direct Inputs to Midbrain Dopamine Neurons

Neuron, 2012
Mitsuko Watabe-Uchida, Lisa Zhu, Sachie K. Ogawa, Archana Vamanrao, N. Uchida   +4 more
semanticscholar   +1 more source

Zebrafish models of developmental epileptic encephalopathy accurately reflect clinical electrographic biomarkers

Epilepsia, EarlyView.
Abstract Objective Developmental epileptic encephalopathies (DEEs) are epilepsy conditions characterized by significant severity and treatment challenges. Spectral components of the encephalogram (EEG) may provide a valuable biomarker of epileptic severity.
Paige Whyte‐Fagundes, Joseane Righes Marafiga, Bingyao Zhu, Scott C. Baraban   +3 more
wiley   +1 more source