Results 241 to 250 of about 429,935 (362)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Exploring parental perspectives of physiotherapy in children with congenital heart disease: a qualitative study. [PDF]

BMJ Paediatr Open
Clarke SL, Menzies JC, Shkurka E, Drury NE.   +3 more
europepmc   +1 more source

Multimodal approach to characterize surgically removed epileptogenic zone from patients with focal drug‐resistant epilepsy: From operating room to wet lab

Epilepsia Open, EarlyView.
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen, Adriana Della Pietra, Mastaneh Torkamani‐Azar, Mireia Gómez‐Budia, Polina Abushik, Nataliia Novosolova, Henri Eronen, Omar Narvaez, Ekaterina Paasonen, Vera Lezhneva, Anssi Pelkonen, Liudmila Saveleva, Antti Huotarinen, Ilya Belevich, Eija Jokitalo, Kuopio Epilepsy Center Epilepsy Surgery Group, Leena Jutila, Tuomas Rauramaa, Arto Immonen, Ville Leinonen, Jussi Tohka, Olli Gröhn, Reetta Kälviäinen, Tarja Malm, Alejandra Sierra   +24 more
wiley   +1 more source

Thoracic Skeletal Muscle and Exercise Capacity in Adults With Congenital Heart Disease: A Cross-Sectional Imaging Analysis. [PDF]

J Cachexia Sarcopenia Muscle
Steffen JD, Garton S, Ashwath R, Maldonado JR, Young K, Lancial C, Aldoss O, Porayette P.   +7 more
europepmc   +1 more source

From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes

Advanced Genetics, EarlyView.
This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley   +1 more source

Fetal growth and congenital heart disease at high altitude. [PDF]

Philos Trans R Soc Lond B Biol Sci
Giussani DA.
europepmc   +1 more source

Outcomes of a mental health screening program for adults with congenital heart disease. [PDF]

Int J Cardiol Congenit Heart Dis
Zhang A, Buelow MW, Brosig CL, Craig A, Miller LA, Sowinski JM, Stoll PM, Andersen K, Cohen SB.   +8 more
europepmc   +1 more source

Feasibility and accuracy of wearable electrocardiogram monitoring in adult congenital heart disease. [PDF]

Europace
Runge F, Brügger J, Ruperti-Repilado FJ, Subin B, Jordan F, Isenegger C, Sticherling C, Kühne M, Mahfoud F, Tobler D, Badertscher P.   +10 more
europepmc   +1 more source

Vocational challenges in congenital heart disease [PDF]

, 2014
Helbing, W.A. (Willem), Utens, E.M.W.J. (Elisabeth)   +1 more
core   +1 more source

Doppel as an early‐stage biomarker promoting EMT and dissemination in ovarian cancers

International Journal of Cancer, EarlyView.
What's New? Existing biomarkers for ovarian cancer (OC) lack the sensitivity and specificity needed to consistently distinguish the malignancy from non‐ovarian influences and other cancers. Here, the authors explored the ability of the prion‐like protein Doppel, normally found in the male testes, to detect OC.
Zulfikar Azam, Xiaojun Zhang, Riajul Wahab, Md Mahedi Hasan, Shivaniben Dhadhal, Bowon Kang, Md Mynul Hassan, Mazharul Karim, Jeong Uk Choi, Muhit Rana, Jian‐Ying Zhang, Sourav Roy, Youngro Byun, In‐San Kim, Jae Yun Song, Eugene P. Toy, Sireesha Y. Reddy, Farzana Alam, Taslim A. Al‐Hilal   +18 more
wiley   +1 more source