Cleo Schwarz
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View article: RAB24 Missense Variant in Dogs with Cerebellar Ataxia
RAB24 Missense Variant in Dogs with Cerebellar Ataxia Open
Hereditary ataxias are a highly heterogenous group of diseases characterized by loss of coordination. In this study, we investigated a family of random-bred dogs, in which two siblings were affected by a slowly progressive ataxia. They pre…
View article: <scp><i>EFNB3</i></scp> Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder
<span><i>EFNB3</i></span> Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder Open
Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document th…
View article: Intragenic dystrophin (<scp><i>DMD</i></scp>) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy
Intragenic dystrophin (<span><i>DMD</i></span>) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy Open
Muscular dystrophies represent a group of disorders characterized by progressive muscle degeneration and weakness. An important subgroup are the dystrophin‐related muscular dystrophies caused by variants in the DMD gene. They can be divide…
View article: Canine <scp><i>RNF170</i></scp> Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy
Canine <span><i>RNF170</i></span> Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy Open
Background Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both cl…
View article: RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum
RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum Open
Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically an…