Results 71 to 80 of about 341,402 (268)
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 +2 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Odun Yüzey Pürüzlülüğü Tahmininde Bir Yapay Sinir Ağı Modelinin Kullanılması
Düzce Üniversitesi Bilim ve Teknoloji Dergisi, 2019 Ağaç malzemelerin yüzey pürüzlülüğü, nihaiürünlerin kalitesinin değerlendirilmesi açısından çok önemlidir. Bu nedenle buçalışmada, odun türü, bıçak sayısı, besleme hızı ve kesme derinliğinin planyalamaişleminde yüzey pürüzlülüğü üzerindeki etkisini ...
Hilal Singer, Şükrü Özşahin
doaj +1 more source
A New Approach of Modelling Bottom Edge Cutting in 4-Axis Rough Milling of Complex Parts and Its Application on Feed Rate Optimization. [PDF]
Micromachines (Basel), 2022 Zhao J, Chang Z.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Experimental analysis of drilling forces and edge defects in SiCp/Al composites using PCD drills
Materials Research ExpressSiCp/Al composites are increasingly utilized in electronics, automobiles and other fields, where their drilling process significantly impacts their application and reliable performance.
Hailong Yang +4 more
doaj +1 more source
Advanced Engineering ResearchIntroduction. Concave parabolic freeform surfaces are integral to high-performance optical reflectors and precision mechanical components, where stringent geometric accuracy is paramount to functional efficiency.
Tuyen Bui Ngoc, Tho Van Nguyen
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source