Clinical features of Friedreich's ataxia: classical and atypical phenotypes. - Wikidata - wikimedia - TriplyDB

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

http://www.wikidata.org/entity/Q38121948

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Diagnosis and management of hypertrophic cardiomyopathy Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study.Friedreich ataxia in Norway - an epidemiological, molecular and clinical study Friedreich Ataxia and nephrotic syndrome: a series of two patients Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs)Molecular and clinical investigation of Iranian patients with Friedreich ataxia.Fine-tuning of the cellular signaling pathways by intracellular GTP levels.Milestones in Friedreich ataxia: more than a century and still learning.Targeting mitochondrial metal dyshomeostasis for the treatment of neurodegeneration.Selected missense mutations impair frataxin processing in Friedreich ataxia MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.Friedreich Ataxia: current status and future prospects.Therapeutic approaches for the treatment of Friedreich's ataxia.Pharmacological therapeutics in Friedreich ataxia: the present state.Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Characterization of the retinal pigment epithelium in Friedreich ataxia.Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector.Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.Molecular chaperones involved in mitochondrial iron-sulfur protein biogenesis.Friedreich's ataxia: clinical features, pathogenesis and management.Personality and Neuropsychological Profiles in Friedreich Ataxia."Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.150 years of Friedreich ataxia: from its discovery to therapy.Peripheral nerve ultrasound in Friedreich ataxia.Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients.Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.Src inhibitors modulate frataxin protein levels.Emerging therapeutics for the treatment of Friedreich’s ataxia

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P2860

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

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Journal of Neurochemistry

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes

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Caterina Mariotti

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Michael H Parkinson

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Sylvia Boesch

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Wolfgang Nachbauer

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P2860

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Clinical and genetic abnormalities in patients with Friedreich's ataxia

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.

Visual system involvement in patients with Friedreich's ataxia.

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.

Reviewing the genetic causes of spastic-ataxias.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

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103-117

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10.1111/JNC.12317

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126 Suppl 1

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2013-08-01T00:00:00Z

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23859346

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