Results 121 to 130 of about 134,753 (307)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Variations in Semen Quality and Potential for Frozen Semen Production in Aceh Cattle
Tropical Animal Science JournalThe quality of fresh and frozen semen as well as the potential to produce frozen semen, vary considerably between individual animals and cattle breeds.
E. Sophian +3 more
doaj +1 more source
Collection and freezing of equine epididymal spermatozoa [PDF]
, 2014 The epididymis and vas deferens store an important number of fertile spermatozoa called the extragonadal sperm reserves. These stored spermatozoa can be collected in an ultimate attempt to preserve viable spermatozoa of a critically ill or dying stallion.
Govaere, Jan +5 more
core +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley +1 more source
Effectiveness of a novel extraction method for semen: comparison using liquid samples and dried stains [PDF]
, 2016 Forensic analysis of deoxyribonucleic acid (DNA) collected from sexual assault evidence is a multi-step process that requires a great amount of time and resources.
Cassis, Patricia Rose
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick +19 more
wiley +1 more source
Utilização de extrato de própolis verde no resfriamento de sêmen equino [PDF]
, 2014 Seminal cooling aims to prolong spermatic lifespan and fertilizing capacity due to reduction in energy metabolism of spermatozoa, providing enough period for transportation from the stallion to the mare.
Santos, Fernanda Carlini Cunha dos
core +1 more source