Results 121 to 130 of about 2,481 (285)
Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy
Brain Pathology, EarlyView.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
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
Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy [PDF]
, 1995 A. Barnicoat
openalex +1 more source
Brain Pathology, EarlyView.Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li +7 more
wiley +1 more source
How to run a brain bank. A report from the Austro-German brain bank [PDF]
, 1993 The sophisticated analysis of and growing information on the human brain requires that acquisition, dissection, storage and distribution of rare material are managed in a professional way.
Gsell, W. +9 more
core
Developmental Medicine &Child Neurology, EarlyView.The proposed conceptual framework highlighting parents' central role in their child's healthcare experience. Abstract Aim To explore parents' experiences of family‐centered care (FCC) in a pediatric neurology clinic. Method In this explanatory sequential mixed‐methods study, parents of children with neurological conditions completed the Measure of ...
Ege Sarikaya +21 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón +33 more
wiley +1 more source
Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the 2‐year change in the Children's Eating and Drinking Ability Scale (CEDAS) (the revised and optimized ...
Georgia Stimpson +13 more
wiley +1 more source
Journal of Neurology Neurosurgery & Psychiatry, 1987 Frank S. Walsh +2 more
semanticscholar +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe +2 more
wiley +1 more source