Results 81 to 90 of about 28,319 (230)

A case of canine urothelial carcinoma of the urinary bladder with skull and skeletal metastases

open access: yesAustralian Veterinary Journal, EarlyView.
Canine urinary bladder neoplasia is uncommon, representing less than 1% of canine neoplasms. Amongst cases of urinary bladder neoplasia in dogs, primary urothelial carcinoma is the most frequent. Urothelial carcinomas are malignant invasive tumours which tend to be slow growing and metastasise late.
A Teh, T Sima, E Shinozaki, R Malik
wiley   +1 more source

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]

open access: yes, 2015
Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya   +15 more
core   +2 more sources

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

open access: yesBrain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper   +17 more
wiley   +1 more source

Myopathy of distal lower limbs: the clinical variant of Miyoshi

open access: yesArquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N.   +5 more
doaj  

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients [PDF]

open access: yes, 2013
The congenital myopathies include a wide spectrum of clinically, histologically and genetically variable neuromuscular disorders many of which are caused by mutations in genes for sarcomeric proteins.
El-Mezgueldi, M   +9 more
core   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

open access: yesThe FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar   +3 more
wiley   +1 more source

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs [PDF]

open access: yes, 2012
BACKGROUND: About 9% of the offspring of a clinically healthy Piétrain boar named ‘Campus’ showed a progressive postural tremor called Campus syndrome (CPS).
Barbara Harlizius   +3 more
core   +2 more sources

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey   +4 more
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney   +4 more
wiley   +1 more source

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

open access: yesFrontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule   +7 more
doaj   +1 more source

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