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124 results

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Quoted phrase not found in phrase index: "Friedreich ataxia 2"
Page 1
Friedreich ataxia: clinical features and new developments.
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR. Keita M, et al. Neurodegener Dis Manag. 2022 Oct;12(5):267-283. doi: 10.2217/nmt-2022-0011. Epub 2022 Jun 29. Neurodegener Dis Manag. 2022. PMID: 35766110 Free PMC article. Review.
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affects 1 in 50,000-100,000 individuals in the USA. ...Finally, new perspectives on the neuroanatomy of FRDA and its developmental features will r …
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affect …
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ. Lynch DR, et al. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
BACKGROUND: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. ...CONCLUSIONS: These results support the positive results of MOXIe part …
BACKGROUND: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia …
Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain.
Tanaka H. Tanaka H. J Echocardiogr. 2021 Jun;19(2):71-79. doi: 10.1007/s12574-020-00508-3. Epub 2021 Jan 18. J Echocardiogr. 2021. PMID: 33460030 Free PMC article. Review.
It is commonly detected in athletes, arterial hypertension, aortic stenosis, hypertrophic cardiomyopathy, cardiac amyloidosis, Fabry disease, or Friedreich's ataxia. Echocardiography plays an important role in detecting LVH and underlying causes in current clinical …
It is commonly detected in athletes, arterial hypertension, aortic stenosis, hypertrophic cardiomyopathy, cardiac amyloidosis, Fabry disease …
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Thornton CA, et al. Lancet Neurol. 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. Lancet Neurol. 2023. PMID: 36804094 Clinical Trial.
However, skeletal muscle drug concentrations were below levels predicted to achieve substantial target reduction. These results support the further investigation of ASOs as a therapeutic approach for myotonic dystrophy type 1, but suggest improved drug delivery to muscle i …
However, skeletal muscle drug concentrations were below levels predicted to achieve substantial target reduction. These results suppo …
Dysphagia in Friedreich Ataxia.
Keage MJ, Delatycki MB, Gupta I, Corben LA, Vogel AP. Keage MJ, et al. Dysphagia. 2017 Oct;32(5):626-635. doi: 10.1007/s00455-017-9804-4. Epub 2017 May 4. Dysphagia. 2017. PMID: 28474131
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. ...Data were correlated with disease parameters (age at symptom onset, age at assessment, …
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictor …
Voice in Friedreich Ataxia.
Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN. Vogel AP, et al. J Voice. 2017 Mar;31(2):243.e9-243.e19. doi: 10.1016/j.jvoice.2016.04.015. Epub 2016 Aug 5. J Voice. 2017. PMID: 27501923
BACKGROUND: Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs. ...
BACKGROUND: Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical s …
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained tendon r …
This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (est …
Presentation and progression of Friedreich ataxia and implications for physical therapist examination.
Maring JR, Croarkin E. Maring JR, et al. Phys Ther. 2007 Dec;87(12):1687-96. doi: 10.2522/ptj.20060232. Epub 2007 Oct 2. Phys Ther. 2007. PMID: 17911272 Review.
Friedreich ataxia, although rare, is the most prevalent inherited ataxia. ...Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as new drug therapies …
Friedreich ataxia, although rare, is the most prevalent inherited ataxia. ...Early identification of individuals with …
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.
Rodden LN, McIntyre K, Keita M, Wells M, Park C, Profeta V, Waldman A, Rummey C, Balcer LJ, Lynch DR. Rodden LN, et al. Ann Clin Transl Neurol. 2023 Aug;10(8):1397-1406. doi: 10.1002/acn3.51830. Epub 2023 Jun 19. Ann Clin Transl Neurol. 2023. PMID: 37334854 Free PMC article.
OBJECTIVE: Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA-TR) expansion in the FXN gene. ...RNFL thickness and visual acuity were compared to measures of disease severity obtained from the Friedreich Ataxia Clini …
OBJECTIVE: Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA-TR) expansion in the FXN gen …
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.
Rezende TJR, Adanyeguh IM, Arrigoni F, Bender B, Cendes F, Corben LA, Deistung A, Delatycki M, Dogan I, Egan GF, Göricke SL, Georgiou-Karistianis N, Henry PG, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lindig T, Martinez ARM, Martinuzzi A, Paparella G, Peruzzo D, Reetz K, Romanzetti S, Schöls L, Schulz JB, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Harding IH, França MC Jr. Rezende TJR, et al. Mov Disord. 2023 Jan;38(1):45-56. doi: 10.1002/mds.29261. Epub 2022 Oct 29. Mov Disord. 2023. PMID: 36308733 Free PMC article.
BACKGROUND: Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain unclear. ...Hence our data support the hypothesis that damage to the DC and damage to CST follow distinct courses in FRDA: developme …
BACKGROUND: Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain …
124 results