Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects
Brain Sciences, 2020 Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac ...
Massimo Russo +5 more
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Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
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SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Synaptic plasticity and cognitive function are disrupted in the absence of Lrp4. [PDF]
, 2014 Lrp4, the muscle receptor for neuronal Agrin, is expressed in the hippocampus and areas involved in cognition. The function of Lrp4 in the brain, however, is unknown, as Lrp4-/- mice fail to form neuromuscular synapses and die at birth.
Burden, Steven J +2 more
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Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Hypoglycin A absorption in sheep without concurrent clinical or biochemical evidence of disease
Journal of Veterinary Internal Medicine, 2021 Background Hypoglycin A (HGA) intoxication after ingestion of Acer spp. tree material has never been confirmed in domesticated ruminants despite their similar grazing habitats.
Sonia González‐Medina +4 more
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Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
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The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Diagnosing Neuromuscular Diseases
European Medical Journal Neurology, 2018 The field of neuromuscular diseases (NMD) has evolved at an unprecedented speed over the last two decades. Due to advances in molecular genetics, the number of identifiably different diseases has increased and a higher level of complexity has become ...
Alberto L. Dubrovsky
doaj
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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