The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases.

No abstract is available for this paper.

• Publication year

  1983

• Venue

  The Quarterly journal of medicine

• Publication date

  1983-09-21

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/OXFORDJOURNALS.QJMED.A067775PMID 6228949
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.

  1981cited by this paper
• Intrafamilial correlation in Friedreich's ataxia

  1981cited by this paper
• Hypertrophic Cardiomyopathy in Friedreich's Ataxia: Symmetric or Asymmetric?

  1980cited by this paper
• Friedreich's ataxia with acute cardiomyopathy.

  1980cited by this paper
• Evolution of Cardio-Pulmonary Involvement in Friedreich's Ataxia

  1979cited by this paper
• Hypertrophic cardiomyopathy: the heart disease of Friedreich's ataxia.

  1977cited by this paper
• Hypertrophic obstructive cardiomyopathy and Friedreich's ataxia. Report of a case and review of literature.

  1971cited by this paper
• Congestive and hypertrophic cardiomyopathies. A decade of study.

  1970cited by this paper
• The heart in Friedreich's ataxia.

  1969cited by this paper
• Study of Fatal Cases of Friedreich's Ataxia

  1968cited by this paper
• OBSERVATIONS ON THE CARDIOVASCULAR INVOLVEMENT IN FRIEDREICH'S ATAXIA.

  1963cited by this paper
• Cardiac Aspects of Friedreich's Ataxia

  1962cited by this paper
• The Electrocardiogram in Population Studies: A Classification System

  1960cited by this paper
• Angina decubitus with electrocardiographic changes in Friedreich's ataxia.

  1952cited by this paper
• Friedreich's ataxia and its cardiac manifestations.

  1952cited by this paper
• Cardiac manifestations in Friedreich's ataxia.

  1950cited by this paper
• Cardiopathy in Friedreich's ataxia (spinal form of hereditary sclerosis); review of literature and analysis of cases of five siblings.

  1950cited by this paper
• FAMILIAL CARDIOMEGALY

  1949cited by this paper
• Myocarditis in Friedreich's ataxia.

  1946cited by this paper
• THE ELECTROCARDIOGRAM IN FRIEDREICH DISEASE

  1942cited by this paper

• Poincaré plot analysis of ECG uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich's ataxia.

  2025cites this paper
• Sexual dimorphism in a mouse model of Friedreich’s ataxia with severe cardiomyopathy

  2024cites this paper
• The Cardiac Calcium Handling Machinery is Remodeled in Friedreich’s Ataxia

  2023cites this paper
• Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes

  2022cites this paper
• Cardiovascular Research in Friedreich Ataxia

  2022cites this paper
• Ectopic Burden via Holter Monitors in Friedreich Ataxia.

  2021cites this paper
• Remember friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy: revisited.

  2021cites this paper
• Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia.

  2020cites this paper
• Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia

  2020cites this paper
• Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis

  2020cites this paper
• Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

  2020cites this paper
• Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich’s Ataxia (FRDA) Patients

  2019cites this paper
• 91 – The Cerebellum and the Hereditary Ataxias

  2017cites this paper
• Cardiomyopathy in patients with Friedreich's ataxia-appearance and diagnostic value

  2017influential citation
• Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients

  2017cites this paper
• Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV‐1 vector

  2017cites this paper
• A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

  2015cites this paper
• Distribution chez la souris gestante du transgène GFP introduit avec un virus adéno-associé du sérotype 9

  2015cites this paper
• Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

  2015cites this paper
• Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia

  2014cites this paper
• Mammalian Fe-S cluster biogenesis and its implication in disease.

  2014cites this paper
• Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

  2014influential citation
• Critical and Respiratory Care in Neuromuscular Disorders

  2014cites this paper
• Développement d'un nouveau modèle cellulaire de l'ataxie de Friedreich : différenciation de cellules pluripotentes induites de patients en cardiomyocytes

  2014cites this paper
• Cardiomyopathy and the electrocardiogram in Friedreich's ataxia.

  2013cites this paper
• Pacemaker in the wrong pocket

  2013cites this paper
• Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model

  2013cites this paper
• Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects

  2012influential citation
• Management and therapy for cardiomyopathy in Friedreich’s ataxia

  2012cites this paper
• Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

  2012cites this paper
• Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia

  2012cites this paper
• Cardiac Involvement in Hereditary Ataxias

  2012cites this paper
• Friedreich ataxia.

  2012cites this paper
• Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

  2012cites this paper
• Cardiac Transplantation in Friedreich Ataxia

  2012cites this paper
• Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia.

  2012cites this paper
• Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

  2011cites this paper
• Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering.

  2011cites this paper
• [Autosomal recessive cerebellar ataxias].

  2011cites this paper
• Les ataxies cérébelleuses autosomiques récessives

  2011cites this paper
• Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.

  2011cites this paper
• Diana Raquel Martins Fernandes Rompante Ferreira

  2011cites this paper
• Methods for hybrid modeling of solution scattering data and their applications

  2011cites this paper
• Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.

  2010cites this paper
• Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.

  2010cites this paper
• CHAPTER 57 – Cardiological Aspects of Systemic Disease

  2010cites this paper
• Feasibility of implantable cardioverter defibrillator treatment in five patients with familial Friedreich's ataxia--a case series.

  2010cites this paper
• Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

  2010cites this paper
• Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

  2010cites this paper
• Isolated degeneration of the posterior column as a distinct entity--a clinical and electrophysiologic follow-up study.

  2010cites this paper
• Cardiomiopatía hipertrófica en ataxia de Friedreich. Presentación de dos casos

  2009cites this paper
• Frataxin de fi ciency induces Schwann cell in fl ammation and death

  2009cites this paper
• Frataxin deficiency induces Schwann cell inflammation and death.

  2009cites this paper
• The Longitudinal Course of Cardiomyopathy in Friedreich’s Ataxia During Childhood

  2009cites this paper
• [Two case studies of hypertrophic cardiomyopathy in Friedreich's ataxia].

  2009cites this paper
• Cardiomiopatía hipertrófica en ataxia de Friedreich. Presentación de dos casos

  2009cites this paper
• Lack of order.

  2008cites this paper
• ecG in non cardiac Disorders

  2008cites this paper
• Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

  2008cites this paper
• Presentation and Progression of Friedreich Ataxia and Implications for Physical Therapist Examination

  2007cites this paper
• Protective effects of Fe-Aox29, a novel antioxidant derived from a molecular combination of Idebenone and vitamin E, in immortalized fibroblasts and fibroblasts from patients with Friedreich Ataxia

  2007cites this paper
• Cardiomyopathy in neuromuscular disorders

  2007cites this paper
• Cardiomyopathy in Friedreich's ataxia‐assessment by cardiac MRI

  2007cites this paper
• Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

  2007cites this paper
• Friedreich's ataxia

  2006cites this paper
• Friedreich's Ataxia and Diseases Associated with Expansion of Non‐Coding Triplets

  2006cites this paper
• Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q

  2006cites this paper
• [Friedreich ataxia and diabetes mellitus--family study].

  2005cites this paper
• Ataxia de Friedreich e Diabetes Mellitus: estudo de uma família

  2005cites this paper
• Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

  2004cites this paper
• Malaysian Siblings with Friedreich Ataxia and Chorea: A Novel Deletion in the Frataxin Gene

  2004cites this paper
• Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients

  2004cites this paper
• Ataxies et paraplégies spastiques héréditaires

  2004cites this paper
• Hypertensive cardiac hypertrophy--is genetic variance the missing link?

  2003cites this paper
• The mitochondrial protein frataxin prevents nuclear damage.

  2002cites this paper
• Genetic ataxia.

  2002cites this paper
• The molecular pathogenesis of Friedreich ataxia

  2001cites this paper
• Friedreich's ataxia presenting after cardiac transplantation

  2001cites this paper
• dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.

  2000cites this paper
• Cardiomyopathy in patients with Friedreichs ataxia - appearance and diagnostic value

  2000cites this paper
• Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

  2000cites this paper
• Recent advances in the molecular pathogenesis of Friedreich ataxia.

  2000cites this paper
• Das Herz bei primär zentralnervösen Erkrankungen

  2000cites this paper
• Crystallization and preliminary X-ray crystallographic analysis of Escherichia coli CyaY, a structural homologue of human frataxin.

  2000cites this paper
• CTG Trinucleotide repeat instability in escherichia coli

  1999cites this paper
• Friedreich's Ataxia: Clinical Aspects and Pathogenesis

  1999cites this paper
• Trinukleotid-Repeat-Erkrankungen

  1999cites this paper
• Nonmalformative Cardiovascular Pathology in Infants and Children

  1999cites this paper
• Marked variation in the cardiomyopathy associated with Friedreich’s ataxia

  1999cites this paper
• Clinical and genetic correlate in childhood onset Friedreich ataxia.

  1999cites this paper
• Clinical and Genetic Correlate in Childhood Onset Friedreich Ataxia

  1999cites this paper
• Hereditary ataxias : from phenotype to genotype.

  1998cites this paper
• Molecular genetics of the hereditary ataxias.

  1998cites this paper
• Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.

  1997cites this paper
• Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.

  1997cites this paper
• Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.

  1997cites this paper
• GAA trinucleotide repeat expansion in variant Friedreich's ataxia families

  1997cites this paper
• Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

  1997cites this paper
• [Cardiovascular changes in a group of patients with heredoataxia. Clinical, electrocardiographic and echocardiographic findings].

  1997cites this paper
• Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

  1997cites this paper