Results 141 to 150 of about 343,838 (345)

Cardiomyopathies and Arrythmias in Neuromuscular Diseases

Cardiogenetics
Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito, Calogero Volpe, Stefano Bardari, Raimondo Calvanese, Paolo China, Giosuè Mascioli, Martina Nesti, Carlo Pignalberi, Manlio Cipriani, Massimo Zecchin   +9 more
doaj   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Diagnosis, Pathogenesis and Treatment of Muscular Dystrophy

Biomedicines
Muscular dystrophies are a group of inherited genetic disorders that involve an ever-growing number of genes [...]
Manuela Bozzi
doaj   +1 more source

CGAS (Chloroplast Genome Analysis Suite): An automated python pipeline for comprehensive comparative chloroplast genomics

iMetaOmics, EarlyView.
Chloroplast Genome Analysis Suite (CGAS) is a comprehensive bioinformatics pipeline that streamline chloroplast genome analysis from raw sequencing reads to publication‐ready outputs. The suite integrates 14 specialized modules organized across three sequential phases.
Abdullah, Rushan Yan, Xiaoxuan Tian
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Fat/Water Separation at 7 T Using a 3D Radial Sequence With Quasi‐Continuous Echo Times

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To achieve a reliable fat/water separation (FWS) at 7 T using a new 3D radial sequence and reconstruction workflow with quasi‐continuous TE sampling. Methods A 3D radial density‐adapted sequence with quasi‐continuous TE sampling was developed for a 7 T whole‐body MRI system.
Matthias Rohe, Katharina Tkotz, Armin M. Nagel, Stefan Sommer, Max Brockmüller, Florian Knoll, Michael Uder, Nico Egger, Frederik B. Laun, Tobias Wilferth   +9 more
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Robert Zeller, MD (1938–2025)

Annals of the Child Neurology Society, EarlyView.
Gary D. Clark, Phillip L. Pearl
wiley   +1 more source

Postural Control Deficits in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy Undergoing Immunomodulatory Therapy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Despite individuals with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) often reporting impaired balance as a main concern, there is a lack of research characterizing balance impairments or evaluating whether immunomodulatory therapy improves balance.
Heather Pudwell, Kyle J. Missen, Katie Beadon, Kristine M. Chapman, Emmanuel Ogalo, Chelsea B. Smith, Michael J. Berger, Mark G. Carpenter   +7 more
wiley   +1 more source