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Friedreich's ataxia

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchStrongest evidence only (44)Meta-analysis (8)Treatment guideline (2)Randomized trial (20)Systematic review (9)Phase 3 study (5)Clinical trial (125)Review article (205)Early study (phase 1 or 2) (14)Case report (57)Laboratory or animal research (47)Commentary or editorial (36)Retracted publication (1) Only studies currently seeking participants (25)

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Publications and studies (1112)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry. (2018/07/01) ♡
• The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population. (2018/07/01) ♡
• Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model. (2018/06/25) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis? (2018/06/01) ♡
• Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements. (2018/06/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [Hereditary Optic Neuropathies]. (2018/06/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Iron-sulfur clusters: from metals through mitochondria biogenesis to disease. (2018/06/01) ♡
• Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly. (2018/06/01) ♡
• The transcriptional regulator CCCTC-binding factor limits oxidative stress in endothelial cells. (2018/06/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway. (2018/06/01) ♡
• Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia. (2018/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. (2018/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels. (2018/06/01) ♡
• DNA triplex structure, thermodynamics, and destabilisation: insight from molecular simulations. (2018/05/23) ♡
• TLR-activated repression of Fe-S cluster biogenesis drives a metabolic shift and alters histone and tubulin acetylation. (2018/05/22) ♡
• GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one. (2018/05/04) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial? (2018/05/01) ♡
• Peripheral nerve ultrasound in Friedreich ataxia. (2018/05/01) ♡
• Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. (2018/05/01) ♡
• Correction: Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts. (2018/04/30) ♡
• Clinical management of Friedreich's Ataxia: a report of two cases. (2018/04/27) ♡
• RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication. (2018/04/20) ♡
• Cognitive and functional connectivity alterations in Friedreich's ataxia. (2018/04/14) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Drosophila melanogaster Models of Friedreich's Ataxia. (2018/04/05) ♡
• Nitric oxide prevents Aft1 activation and metabolic remodeling in frataxin-deficient yeast. (2018/04/01) ♡
• Chemical shift assignment of a thermophile frataxin. (2018/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Genetic Infiltrative Cardiomyopathies. (2018/04/01) ♡
• Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice. (2018/04/01) ♡
• Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (2018/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pediatric Ataxia: Focus on Chronic Disorders. (2018/04/01) ♡
• Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia. (2018/03/22) ♡
• Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients. (2018/03/06) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model of Friedreich's Ataxia. (2018/03/06) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The role of oxidative stress in Friedreich's ataxia. (2018/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Progress in the treatment of Friedreich ataxia. (2018/03/01) ♡
• The importance of central auditory evaluation in Friedreich's ataxia. (2018/03/01) ♡
• Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study. (2018/02/22) ♡
• Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment. (2018/02/01) ♡
• Differentially Regulated Cell-Free MicroRNAs in the Plasma of Friedreich's Ataxia Patients and Their Association with Disease Pathology. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. (2018/02/01) ♡
• Mitochondrial pore opening and loss of Ca(2+) exchanger NCLX levels occur after frataxin depletion. (2018/02/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Molecular genetic testing for hereditary ataxia: What every neurologist should know. (2018/02/01) ♡
• Biophysical characterisation of the recombinant human frataxin precursor. (2018/01/25) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Cerebral abnormalities in Friedreich ataxia: A review. (2018/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current and Promising Therapies in Autosomal Recessive Ataxias. (2018/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intrathecal Baclofen Therapy for Painful Muscle Spasms in a Patient with Friedreich's Ataxia. (2018/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Spastic ataxias. (2018/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Epigenetic cerebellar diseases. (2018/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia. (2018/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Recessive ataxias. (2018/01/01) ♡

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