Results 111 to 120 of about 1,822 (274)
Gemin4: A Novel Component of the Smn Complex That Is Found in Both Gems and Nucleoli [PDF]
, 2000 The survival of motor neurons (SMN) protein, the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, is localized both in the cytoplasm and in discrete nuclear bodies called gems.
Charroux, Bernard +6 more
core +2 more sources
Exploring neuronal mechanisms of osteosarcopenia in older adults
The Journal of Physiology, EarlyView.Abstract figure legend The mechanosensitive osteocytic network within the bone matrix acts as a receptor and plays a crucial role in the functional adaptation of bone to mechanical loading. Through mechanotransduction, osteocytes convert mechanical impulses into electrical signals, which are transmitted via afferent nerves to sympathetic preganglionic ...
Ilhan Karacan, Kemal Sıtkı Türker
wiley +1 more source
Update and new advances in fertility preservation and cancer
CA: A Cancer Journal for Clinicians, EarlyView.Abstract Adolescents and young adults with a cancer diagnosis face unique challenges during treatment and into survivorship related to fertility and family building. This review provides an updated overview of the impact of cancer and its associated treatments, including novel treatments in male and female fertility.
Gwendolyn P. Quinn +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures
Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez +2 more
wiley +1 more source
PRO23 HEALTHCARE RESOURCE UTILIZATION OVER THREE YEARS AMONG LATER CHILDHOOD, ADOLESCENT AND ADULT SPINAL MUSCULAR ATROPHY PATIENTS: A NATURAL HISTORY STUDY WITHIN U.S. HOSPITALS [PDF]
, 2019 Angela D. Paradis +5 more
openalex +1 more source
Muscle &Nerve, Volume 72, Issue 5, Page 1130-1142, November 2025.This analysis of Global Burden of Disease data reveals a rising burden of motor neuron diseases in the United States from 1990 to 2021, with increasing prevalence and mortality. Geographic and sociodemographic disparities highlight the need for public health interventions and equitable resource distribution.
Yun‐Seo Oh +6 more
wiley +1 more source
Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy
Brain Pathology, Volume 35, Issue 6, November 2025.Purkinje cell (PC) degeneration is localized to posterior lobules in the cerebellum, and rescue of survival motor neuron protein expression levels in motor neurons does not ameliorate this effect. Representative images of sagittal cerebellar sections stained with anti‐calbindin in the vermis and hemisphere at P12 for wild type, ChATCre+ rescue (Rescue),
Nicholas C. Cottam +9 more
wiley +1 more source
Child: Care, Health and Development, Volume 51, Issue 6, November 2025.ABSTRACT Background The ‘Right to Play’ is included in the United Nations Convention on the Rights of the Child. Outdoor play contributes to children's overall development, physical and mental health and quality of life. Unfortunately, children with disabilities often experience restrictions while playing outdoors. Understanding children's perspectives
R. Q. Beekhuizen +8 more
wiley +1 more source