Results 81 to 90 of about 7,170 (177)
Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes.
Rosmini, Stefania <1981>
core +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 393-398, February 2026.ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK
Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar +4 more
wiley +1 more source
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, Volume 13, Issue 11, 23 February 2026.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia [PDF]
, 2016 Purkinje cell pathology is a common finding in a range of inherited and acquired cerebellar disorders, with the degree of Purkinje cell injury dependent on the underlying aetiology.
Cook, Amelia +5 more
core +3 more sources
Iron Storage in Friedreich’s Ataxia
Pediatric Neurology Briefs, 1999 To test the hypothesis that iron is increased in the cerebellum of patients with Friedreich’s ataxia (FA), a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast was used in 12 patients and 23 ...
J Gordon Millichap
doaj +1 more source
Friedreich’s Ataxia with Retained Reflexes
Pediatric Neurology Briefs, 1995 Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
doaj +1 more source
Mitochondrial dynamism and heart disease: Changing shape and shaping change [PDF]
, 2015 Mitochondria of adult cardiomyocytes appear hypo-dynamic, lacking interconnected reticular networks and the continual fission and fusion observed in many other cell types.
Dorn, Gerald W, II
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Radiology Case ReportsFriedreich's ataxia (FRDA) is a neurodegenerative disease characterized by progressive ataxia, dysarthria, sensory loss. While neurological symptoms are prominent, cardiac manifestations significantly contribute to mortality. Cardiomyopathy in Friedreich'
Yasmine Ouaddouh, MD +4 more
doaj +1 more source
Friedreich's Ataxia and Glucose Metabolism
Pediatric Neurology Briefs, 1988 Glucose metabolism was investigated in 21 patients with FA at the Instituto Neurogico, Cattedra di Clinica Medica, Milan, Italy.
J Gordon Millichap
doaj +1 more source