Results 241 to 250 of about 5,388,665 (365)

Zap1‐dependent transcription from an alternative upstream promoter controls translation of RTC4 mRNA in zinc‐deficient Saccharomyces cerevisiae [PDF]

, 2017
Janet Taggart, Colin W. MacDiarmid, Spencer A. Haws, David Eide   +3 more
openalex   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

A Novel Surgical Treatment for Bankart Lesion in a Thrower's Shoulder: Reconstruction of the Anterior Band of the Inferior Glenohumeral Ligament Restores Shoulder Biomechanics Closer to Preinjury Levels Than Bankart Repair. [PDF]

Orthop J Sports Med
Mihata T, Chung MS, Lew R, Beyer R, McGarry MH, Mihata M, Mihata T, Lee TQ.   +7 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Genome-Wide Analysis in Vivo of Translation with Nucleotide Resolution Using Ribosome Profiling

Science, 2009
Nicholas T. Ingolia, Sina Ghaemmaghami, J. R. Newman, J. Weissman   +3 more
semanticscholar   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Scientific production on instruments adapted to native languages in the Peruvian context. [PDF]

Front Psychol
Phoco-Arhuiri RM, Figueroa-Quiñones J, Cjuno J.   +2 more
europepmc   +1 more source

Serum Induction of MEF2/RSRF Expression in Vascular Myocytes Is Mediated at the Level of Translation

, 1995
Etsu Suzuki, Kun Guo, Michael F. Kolman, Yie‐Teh Yu, Kenneth Walsh   +4 more
openalex   +2 more sources

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Translation and content validity of the Arabic Communication and Symbolic Behaviour Scales Developmental Profile (CSBS DP) Infant-Toddler Checklist. [PDF]

BMJ Open
Al-Bluwi GSM, Masuadi E, Marquis A, Al-Rifai RH, Elbarazi I, Ahmed LA.   +5 more
europepmc   +1 more source