Results 51 to 60 of about 352,035 (268)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Heat Treatment and Fracture Behavior of Aluminum/Steel FSW Joints: A Comprehensive Analysis of a Curved Interface

Journal of Manufacturing and Materials Processing
Joining dissimilar metals, such as aluminum and steel, presents an attractive option for creating lightweight yet durable structures. However, challenges arise from the formation of brittle intermetallic compounds (IMCs) at the interface of dissimilar ...
Tiago Oliveira Gonçalves Teixeira, Reza Beygi, Masih Bolhasani Hesari, Ricardo João Camilo Carbas, Eduardo Andre Sousa Marques, Mohammad Mehdi Kasaei, Lucas Filipe Martins da Silva   +6 more
doaj   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Grip strength is not related to increased medial elbow joint-space gapping induced by repetitive pitching

JSES International, 2020
Background: Pitching induces elbow valgus stress, which can lead to an increase in medial elbow joint-space gapping when repeated. Previous basic research on the medial elbow joint shows that the contraction associated with gripping reduces medial elbow ...
Hiroshi Hattori, PT, MS, CSCS, Kiyokazu Akasaka, PT, PhD, Takahiro Otsudo, PT, PhD, Toby Hall, PT, PhD   +3 more
doaj   +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, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Effect of TIG and FSW Welding Processes on Mechanical Properties of Al-4.2Mg-0.6Mn-0.4Sc-0.1Zr Alloy

Journal of Mechanical Engineering, 2021
In this study, friction stir welding (FSW) and Tungsten gas welding (TIG) processes were used to weld 5 mm thick Al-4.2Mg-0.6Mn-0.4Sc-0.1Zr alloy plates. The FSwelds and TIG welds were tested for mechanical properties (hardness, ultimate tensile strength,
Mallipudi Srinivasa Rao, Shankar Tangudu Sai, Srikar Perumalla, Rao Uppda Bhanoji, Chandrasekhar Yandra, Karthikeyan Kambhampati   +5 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

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, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Influence of the Depth of Friction-welded Dowels on the Strength of Rotary Welded Joints

BioResources
One of the important factors in rotary welding is the depth of welding of the dowel as well as the direction of welding of the dowel. In the studied interval (welding depth of 15 to 30 mm), the pull-out force increased when welding the dowel parallel to ...
Ivica Župčić, Igor Đukić, Marin Hasan   +2 more
doaj   +2 more sources

Recent advances in joining of SiC-based materials (monolithic SiC and SiCf/SiC composites): Joining processes, joint strength, and interfacial behavior

Journal of Advanced Ceramics, 2019
Silicon carbide (SiC) has been widely concerned for its excellent overall mechanical and physical properties, such as low density, good thermal-shock behavior, high temperature oxidation resistance, and radiation resistance; as a result, the SiC-based ...
Guiwu Liu, Xiangzhao Zhang, Jian Yang, Gunjun Qiao   +3 more
doaj   +1 more source