Results 131 to 140 of about 118,464 (297)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Seven Shades of Grey: A Follow-Up Study on the Molecular Basis of Coat Colour in Indicine Grey Cattle Using Genome-Wide SNP Data. [PDF]

Genes (Basel), 2022
Senczuk G, Landi V, Mastrangelo S, Persichilli C, Pilla F, Ciani E.   +5 more
europepmc   +1 more source

Quality assessments of untreated and washed quinoa (Chenopodium quinoa) seeds based on histlogical and foaming capacity investigations [PDF]

Quinoa seed has a high nutritional value, but has a coating of bitter-tasting saponins, making it unpalatable. Therefore the seeds are usually processed in order to remove the naturally occurring saponins from the seeds.
Groot, M.J., Houben, R., Lotgering, M., Ossenkoppele, J.S., Pinckaers, V.G.Z., Raamsdonk, L.W.D., van   +5 more
core   +1 more source

The Accessible Toilet Resource [PDF]

, 2007
Extract: This Accessible Toilet Design Resource has been produced from new primary research carried out within VivaCity 2020, a large university-based research consortium that is developing tools and resources to support the design of socially inclusive ...
Bichard, J, Greed, C, Hanson, J
core  

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Whole-genome sequencing of endangered Zhoushan cattle suggests its origin and the association of MC1R with black coat colour. [PDF]

Sci Rep, 2021
Jiang L, Kon T, Chen C, Ichikawa R, Zheng Q, Pei L, Takemura I, Nsobi LH, Tabata H, Pan H, Omori Y, Ogura A.   +11 more
europepmc   +1 more source

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

Video analysis of events within chemical sensor networks [PDF]

, 2005
This paper describes how we deploy video surveillance techniques to monitor the activities within a sensor network in order to detect environmental events.
Beirne, Stephen, Cooke, Eddie, Corcoran, Brian, Diamond, Dermot, O'Connor, Noel E., Shepherd, Roderick, Smeaton, Alan F.   +6 more
core  

Diagnostic Utility of Testing for Novel Murine Autoantibodies for Sjögren's Disease in the Rheumatology Outpatient Setting

Arthritis Care &Research, Accepted Article.
Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren's disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr, Michael D. George, Vatinee Y. Bunya, Nora Sandorfi, Mina Massaro‐Giordano, Frederick B. Vivino   +5 more
wiley   +1 more source