Results 51 to 60 of about 1,058 (195)

Evaluating the Effects of Nusinersen Treatment in Adults With Spinal Muscular Atrophy Using Axonal Excitability and MscanFit MUNE

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The biological changes in motor neurons and motor axons that correlate with the clinical benefits of nusinersen, an antisense oligonucleotide, in spinal muscular atrophy (SMA) remain poorly understood. This study aimed to investigate changes in axonal excitability and motor unit number estimation (MUNE) parameters following a
Abir Alaamel, Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Hüseyin Can Kaya, Hilmi Uysal   +4 more
wiley   +1 more source

Clinical Utility of Far‐Field Potentials in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluates the diagnostic utility of ulnar nerve FFP in ALS. Methods Comprehensive peripheral neurophysiological assessments were conducted in 62 ALS and 43 ALS‐mimicking ...
Aicee Dawn Calma, Nathan Pavey, Claudia Santos Silva, Yukiko Tsuji, Mehdi A. J. Van den Bos, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +7 more
wiley   +1 more source

Physiological barriers to oral intake in survivors of critical illness: A scoping review

Nutrition in Clinical Practice, EarlyView.
Abstract Oral nutrition is the predominant mode of nutrition delivery on the post–Intensive Care Unit (ICU) ward; yet, it is associated with lower intake than via enteral or parenteral nutrition. There are limited data on barriers that influence oral intake in ICU survivors.
Breanna J. Teleki, Elizabeth Viner Smith, Amy Freeman‐Sanderson, Rosalie Yandell, Lee‐anne S. Chapple   +4 more
wiley   +1 more source

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients [PDF]

, 2015
Miloš Brkušanin, Ana Kosać, Vladimir Jovanović, Jovan Pešović, Goran Brajušković, Nikola Dimitrijević, S. Todorović, Stanka Romac, Vedrana Milić Rašić, Dušanka Savić‐Pavićević   +9 more
openalex   +1 more source

A comprehensive review on adaptive plasticity and recovery mechanisms post‐acquired brain injury

Neuroprotection, EarlyView.
This figure illustrates the dynamic process of neurogenesis following brain injury, focusing on the roles of neural stem and progenitor cells at the injury site. Key mechanisms include axonal sprouting, synaptogenesis, dendritic remodeling, and brain‐derived neurotrophic factor signaling via TrkB receptors.
Ravi Kumar Rajan
wiley   +1 more source

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi   +9 more
wiley   +1 more source

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. [PDF]

, 1985
I Hausmanowa-Pétrusewicz, Jacek Zaremba, Julita Borkowska   +2 more
openalex   +1 more source

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc‐Millar, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

PM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup, Elise M. Pearson, Alan Cuevas Villagomez, Kristyn L. Felman, Amy J. Houtrow, Max B. Hurwitz   +5 more
wiley   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source