Results 51 to 60 of about 1,539,228 (134)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2784-2789, December 2026.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Psilocybin as a Transdiagnostic Treatment for Eating Disorders and Comorbid Psychopathology: Implications for Clinical Nosology and Research Directions

International Journal of Eating Disorders, Volume 59, Issue 11, Page 2375-2388, November 2026.
ABSTRACT Objective Eating disorders (EDs) are characterized by high rates of psychiatric comorbidity and suboptimal treatment outcomes. There remain critical gaps in research, including the exploration of effective transdiagnostic interventions. This forum article examines the potential of psilocybin treatment (PT) as a transdiagnostic intervention for
Elena Koning, Jérémie Richard, Aaron Keshen   +2 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, Volume 11, Issue 5, Page 1395-1412, October 2026.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Based on a Single Case, Cardiopulmonary Training Cannot Be Recommended as Therapy for Hemiparesis in MELAS With Ischemic Stroke

The Kaohsiung Journal of Medical Sciences, EarlyView.
Sounira Mehri, Josef Finsterer
wiley   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source