Results 211 to 220 of about 32,246 (328)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Premature Ventricular Complexes During Exercise in Asymptomatic Adults

, 2021
Sandeep Saha
openalex   +1 more source

Cardiovascular biomarkers and preeclampsia: A narrative review

European Journal of Clinical Investigation, EarlyView.
Preeclampsia (PE) is a complex pregnancy disorder linked to cardiovascular disease (CVD) through shared risk factors and epidemiological associations. Cardiovascular biomarkers are valuable for predicting, diagnosing and assessing PE, as well as estimating future CVD risk. This review explores current cardiovascular biomarkers used in clinical practice
Johana Ullmo, Madalina Nicoleta Nan, Mónica Cruz‐Lemini, Carmen Garrido‐Gimenez, Judit Platero, Álvaro García‐Osuna, Pablo García‐Manau, Marcel Twickler, Elisa Llurba   +8 more
wiley   +1 more source

Coronary sinus as a site for stable temporary atrial pacing to tide over premature ventricular complex–triggered recurrent ventricular fibrillation in a patient with severe left ventricular dysfunction after coronary bypass surgery

, 2018
Aniruddha Vyas, Yash Lokhandwala
openalex   +1 more source

2019 HRS/EHRA/APHRS/LAHRS expert consensus statement on catheter ablation of ventricular arrhythmias [PDF]

, 2019
Cuculich, Phillip, et al,
core   +1 more source

Cardiovascular Challenges in Chronic Lymphocytic Leukemia (CLL) Patients Undergoing Bruton Tyrosine Kinase (BTK) Inhibitor Therapy

European Journal of Haematology, EarlyView.
ABSTRACT Background/Objectives Bruton tyrosine kinase inhibitors (BTKis) have revolutionized treatment for chronic lymphocytic leukemia (CLL), but cardiovascular (CV) toxicities pose significant challenges. Second‐generation BTKis offer improved target specificity, yet CV risks persist.
Stefano Oliva, Stefano Molica
wiley   +1 more source

Clinical Characteristics and Features of Frequent Idiopathic Ventricular Premature Complexes in the Korean Population. [PDF]

Korean Circ J, 2015
Hwang JK, Park SJ, On YK, Kim JS, Park KM.   +4 more
europepmc   +1 more source

Lateralizing value of interictal epileptiform discharges and other parameters in hypothalamic hamartoma

Epilepsia, Volume 66, Issue 3, Page 662-673, March 2025.
Abstract Objective Hypothalamic hamartomas (HHs) are associated with pharmacoresistant epilepsy. Stereotactic radiofrequency thermocoagulation (SRT) shows promise as a disconnecting intervention. Although magnetic resonance imaging (MRI) is typically used to determine the attachment and intervention side, it presents challenges in cases of bilaterally ...
Friederike Niedermoser, Sarah M. Metzger, Kathrin Wagner, Peter C. Reinacher, Jan Schönberger, Julia Jacobs‐LeVan, Andreas Schulze‐Bonhage, Kerstin Alexandra Klotz   +7 more
wiley   +1 more source

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

Epilepsia, Volume 66, Issue 3, Page 914-928, March 2025.
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot, Christopher H. Thompson, Susan Sotardi, Jinan Jiang, Marina Trivisano, Simona Balestrini, D. Isum Ward, Natalie Ginn, Brunetta Guaragni, Laura Malerba, Angeliki Vakrinou, Mia Sherer, Ingo Helbig, Ala Somarowthu, Sanjay M. Sisodiya, Roy Ben‐Shalom, Renzo Guerrini, Nicola Specchio, Alfred L. George Jr, Ethan M. Goldberg   +19 more
wiley   +1 more source