Results 61 to 70 of about 252,766 (306)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Mrs. Hannah

, 1975
Portrait of Mrs ...

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Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Hannah Evelyn Morgan

, 2007
"Hannah Evelyn Morgan NFX 133241 107 General Hospital Darwin 1945 to 6th Februray 19[46] Served in continuos Imperial Force from 13th November 1941 to 19th march 1946.
Morgan, Hannah Evelyn
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Traces, CSLBS Newsletter Autumn 2023 [PDF]

, 2023
With contributions from Matthew J.
Francis-Brown, Suzanne, Smith, Matthew, Bekkers, Hannah, Hannah, Jess   +3 more
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Towards a Fully Automated Pipeline for Short-term Forecasting of In Situ Coronal Mass Ejection Magnetic Field Structure

The Astrophysical Journal
We present the automated pipeline NEXUS (Near-real-time Event detection and eXtrapolation using a Unified Space weather pipeline) for operational short-term forecasting of coronal mass ejection (CME) magnetic field structure at L1, coupling arrival time ...
Hannah T. Rüdisser, Emma E. Davies, Ute V. Amerstorfer, Christian Möstl, Eva Weiler, Andreas J. Weiss, Justin Le Louëdec, Martin A. Reiss, Gautier Nguyen   +8 more
doaj   +1 more source

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

Case Reports in Psychiatry, 2012
Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental
Michal Cohen-Ophir, Tsophia Castel-Deutsh, Emanuel Tirosh   +2 more
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

The Appeal of Civil Disobedience in the Central Mediterranean: German Responses to the June 2019 Mission of the Sea-Watch 3

Journal of Humanitarian Affairs, 2020
The European responses to irregularised migrants in the second decade of the twenty-first century have been qualitatively new not so much because of the often-celebrated cultures of hospitality in countries such as Germany and Sweden, but because of acts
Klaus Neumann
doaj   +1 more source