Results 141 to 150 of about 768,160 (341)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
THE INFLUENCE OF FOOD AND OF EPITHELIAL ATROPHY ON THE MANIFESTATIONS OF SACCHARO-BUTYRIC INTESTINAL PUTREFACTION. [PDF]
Christian A. Herter
openalex +1 more source
Multiple system atrophy (MSA) is a sporadic, adult-onset, relentlessly progressive neurodegenerative disorder, clinically characterized by various combinations of autonomic failure, parkinsonism and ataxia. The neuropathological hallmark of MSA are glial cytoplasmic inclusions consisting of misfolded α-synuclein.
Fanciulli, Alessandra +5 more
openaire +4 more sources
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
ACUTE YELLOW ATROPHY OF THE LIVER FOLLOWING OPERATION FOR INTESTINAL OBSTRUCTION. [PDF]
C.E. Campbell-Horsfall
openalex +1 more source
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
A Case of Simple Atrophic Sclerema, Associated with Disorder of the Circulatory and Alimentary Functions [PDF]
John D. Harley
openalex +1 more source
Longitudinal RNA-Seq analysis of acute and chronic neurogenic skeletal muscle atrophy. [PDF]
Skeletal muscle is a highly adaptable tissue capable of changes in size, contractility, and metabolism according to functional demands. Atrophy is a decline in mass and strength caused by pathologic loss of myofibrillar proteins, and can result from ...
Coppola, Giovanni +4 more
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