Results 151 to 160 of about 658,405 (249)

Neuro-Ophthalmic Practice Patterns Around the World

Neuro-ophthalmic conditions affect many patient populations, yet neuro-ophthalmology is a relatively under-represented subspecialty. Many institutions do not have a neuro-ophthalmologist, limiting opportunities for training and patient care.
Aishwarya Sriram; Dean Cestari
core  

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source

Lower Urinary Tract Symptoms as an Indicator of Occult Neurologic Disease: A System-first Framework for Urologic Practice. [PDF]

Curr Urol Rep
Minnerath E, Khazen O, Panicker JN, Drake MJ, De EJB.   +4 more
europepmc   +1 more source

Fatigue in Myasthenia Gravis: Recent Advances and Emerging Concepts

Muscle &Nerve, Volume 74, Issue S1, Page S24-S30, September 2026.
ABSTRACT Fatigue is a common, often disabling symptom in myasthenia gravis (MG), distinct from muscle fatigability, and strongly associated with reduced quality of life. This narrative review examines current evidence on fatigue in MG, its patient impact, and future research directions. Earlier studies, mostly small and heterogeneous, reported a highly
Yvonne J. M. Campman, Martijn R. Tannemaat, Annabel M. Ruiter, Sarah Hoffmann   +3 more
wiley   +1 more source

ICU-Acquired Weakness: Diagnostic Yield of a Clinical Diagnosis with Additional Quantification of Myosin Loss in Adult Critically Ill Patients. [PDF]

J Clin Med
Adema W, Exl MT, Hedström Y, Larsson L, Schefold JC, Z'Graggen WJ.   +5 more
europepmc   +1 more source

Explainable Artificial Intelligence for Clinical Trust in Parkinson's Disease: A Scoping Review on Non‐Invasive Digital Biomarkers

WIREs Data Mining and Knowledge Discovery, Volume 16, Issue 3, September 2026.
Explainable artificial intelligence is expanding Parkinson's disease research by improving model transparency, supporting biomarker discovery and optimizing predictive models, but further validation and clinical integration are needed before routine healthcare implementation. ABSTRACT Parkinson's disease (PD) increasingly relies on non‐invasive digital
Lorenzo Rettori, Erika Rovini, Hamido Fujita, Filippo Cavallo   +3 more
wiley   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

Referrals to Neuro-ophthalmology for Monocular Diplopia

Neuro-ophthalmic conditions are complex, and may be urgently vision- and life-threatening, or involve diagnostic dilemmas. Evaluation of these conditions requires a time-intensive diagnostic process and navigating complex work-ups.1-4 However, there is a
Evan Jameyfield; Leanne Stunkel; Gregory Van Stavern
core  

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, Volume 36, Issue 5, September 2026.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Understanding neuro-pulmonary dysfunction in children with neurodisability. [PDF]

Breathe (Sheff)
Freitag N, Knight Lozano R, Kolekar S, Dhandayuthapani R, Averdunk LS, Thomas S, Schramm D, Brown S, Unger S.   +8 more
europepmc   +1 more source