Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Koeppen, Arnulf H.·2011·Journal of the Neurological Sciences

Cited by (452)

Items 301–400 of 452

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    Pauline Meriau, Laure Weill, Hélène M. Puccio, Cendra Agulhon · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  2. Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia
    David R. Lynch, Sonal Sharma, Patrick Hearle, Nathaniel R. Greeley, Katherine Gunther, Medina Keita, Cassandra J. Strawser, Lauren A. Hauser, Courtney C. Park, Kimberly A. Schadt et al. · 2024 · Journal of the Neurological Sciences
  3. An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich’s ataxia
    Kevin C. Kemp, Anastasia Georgievskaya, Kelly M Hares, Juliana Redondo, Steven Bailey, Claire M Rice, Neil J. Scolding, Chris D. Metcalfe, Alastair Wilkins · 2022 · Nature Communications
  4. Advances in bi-directional relationships for EZH2 and oxidative stress
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  5. Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single‐center, retrospective study
    Elizabeth M. O’Brien, Natalie Neiswinter, Kimberly Y. Lin, David R. Lynch, Keith D. Baldwin, Victoria Profeta, John M. “Jack” Flynn, Wallis T. Muhly · 2024 · Pediatric Anesthesia
  6. Frataxin is essential for zebrafish embryogenesis and pronephros formation
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  7. Human Pluripotent Stem Cells Modeling Neurodegenerative Diseases
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  8. Insights into the promising prospect of medicinal chemistry studies against neurodegenerative disorders
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  9. Mutability of druggable kinases and pro-inflammatory cytokines by their proximity to telomeres and A+T content
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  10. Ataxia in Multiple Sclerosis: From Current Understanding to Therapy
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  11. Rehabilitation of specific conditions
    Robert Iansek, Meg E. Morris · 2013 · Cambridge University Press eBooks
  12. Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients
    Agessandro Abrahão, José Luiz Pedroso, Patrícia de Carvalho Aguiar, Orlando Graziani Póvoas Barsottini · 2015 · The Cerebellum
  13. ‘Pseudo‐Dominant’ Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family
    Adriana Moro, Alberto Martínez, Simone Carreiro Vieira Karuta, Renato P. Munhoz, Mariana Moscovich, Francisco Manoel Branco Germiniani, Walter Oleschko Arruda, Salmo Raskin, Hélio Afonso Ghizoni Teive · 2014 · Movement Disorders Clinical Practice
  14. Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
    Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Salvatore Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo · 2020 · Annals of Noninvasive Electrocardiology
  15. Advances in mitochondrial medicine and translational research
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  16. Comparison of Acoustic Measures in Discriminating Between Those With Friedreich's Ataxia and Neurologically Normal Peers
    Sophia Luna-Webb · 2015 · Journal of International Crisis and Risk Communication Research
  17. Distinct molecular and functional properties of human induced-proprioceptor and low-threshold mechanoreceptor neurons
    Amy E. Hulme, Rocio K. Finol-Urdaneta, Jeffrey R. McArthur, Nicholas R. Marzano, Simon Maksour, Amarinder Singh Thind, Yang Guo, Dominic Kaul, Marnie L. Maddock, Oliver Friedrich et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  18. An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
    Chiara Vancheri, Andrea Quatrana, Elena Morini, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Alessandra Rufini, Ivano Condò, Roberto Testi, Giuseppe Novelli et al. · 2024 · Human Genomics
  19. Herzbeteiligung bei Friedreich-Ataxie
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  20. Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia
    Mohammad Hossein Salehi, Massoud Houshmand, Omid Aryani, Behnam Kamalıdehghan, Elham Khalili · 1996 · Europe PMC (PubMed Central)
  21. Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy
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  22. Source of medical information and behavioral seeking patterns in patients affected with Friedreich’s ataxia and their caregivers: a survey study
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  23. Rehabilitation of Friedreich ataxia
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  24. Bioinorganic Neurochemistry
    Drew S. Folk, Filip Kielar, Katherine J. Franz · 2013 · Elsevier eBooks
  25. Myocardial Deformation Imaging and Rare Cardiomyopathies with Hypertrophic Phenotype: A Review Focused on Fabry Disease, Friedreich Ataxia and Amyloidosis
    Bahaa M. Fadel, Luca Baldini, Valeria Pergola, Ziad Bulbul, Giovanni Di Salvo · 2013 · Cardiogenetics
  26. Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients
    María Sierra, Jon Infante, José Berciano · 2012 · The Cerebellum
  27. A Novel Ataxic Mutant Mouse Line Having Sensory Neuropathy Shows Heavy Iron Deposition in Kidney
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  28. Clinical management of Friedreich’s Ataxia: a report of two cases
    Yannis Dionyssiotis, Athina Kapsokoulou, Άννα Δανοπούλου, Maria Kokolaki, Athina Vadalouka · 2018 · Spinal Cord Series and Cases
  29. Cardiomyopathy as the first manifestation of Friedreich s ataxia
    Rafael Tuzino Leite Neves Maffei, Giulio de los Santos Fortuna, Luca Campolino Rosso, Pedro Dragone Pires, Ivan Rondelli · 2020 · Autopsy and Case Reports
  30. Hypertrophic Cardiomyopathy
    Steven D. Colan, Renee E. Margossian · 2017 · Elsevier eBooks
  31. Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model
    Misa Nishiyama, John Kalambogias, Fumiyasu Imai, Emily Yang, Sonia Lang, Joriene C. de Nooij, Yutaka Yoshida · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  32. Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain
    Anna M. Dischler, Akshay Kumar Avvaru, Susana Lopez-Ignacio, Cristina Lau, Martin W. Breuss, Verónica Martínez‐Cerdeño, Harriet Dashnow, Caroline Dias · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  33. Nerve Ultrasound in Patients With Friedreich Ataxia
    Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Simon Männlin, Toghrul Gasimli, Ludger J. Schöls, Zofia Fleszar, Stefanie N. Hayer, Alexander M. Grimm · 2025 · Muscle & Nerve
  34. Neuropathology of Friedreich ataxia and its links to metabolic pathways
    Elizabeth Mercado‐Ayón, Michael P. Lazaropoulos, Yesica Mercado-Ayon, David R. Lynch · 2025 · Neurodegenerative Disease Management
  35. Development of a secretable frataxin for enhanced efficacy in treating Friedreich’s Ataxia
    Daniel M. DuBreuil, Michael Fleming, Yashvi Parikh, Mikaela Woo, Jie Bu, Swathi Ayloo, Ingeborg Maria Langohr, Dinesh S. Bangari, Christian Mueller, Shyam S. Ramachandran · 2025 · Molecular Therapy Advances
  36. Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia
    Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg Bernhard Schulz, Reetz Kathrin, Sandro Romanzetti, the FACROSS study group · 2026 · Movement Disorders
  37. Optic Atrophy in Children
    Michael C. Brodsky · 2009 · Springer eBooks
  38. Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia
    Khashayar Eshaghi, Prima H. Rao, Megan M. Shen, David R. Lynch · 2025 · Neurology Genetics
  39. Substantia Nigra Echogenicity in Hereditary Ataxias With and Without Nigrostriatal Pathology: a Pilot Study
    Patricia Martínez‐Sánchez, Rubén Cazorla-García, Irene Sanz‐Gallego, Elisa Correas Callero, Irene Pulido Valdeolivas, Javier Arpa · 2015 · The Cerebellum
  40. Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins
    Lisbeth Tranebjærg · 2012 · Springer eBooks
  41. Aspectos Neuroanatômicos e Correlações Clínicas da Ataxia de Friedreich
    Dennys Soares De Castro, Luciano Azevedo Duarte · 2013 · Revista Neurociências
  42. Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration
    Antonella Bizzoca, Martina Caracciolo, Patrizia Corsi, Thea Magrone, Emilio Jirillo, Gianfranco Gennarini · 2020 · Molecules
  43. Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic
    Е. I. Fomicheva, Roman P. Myasnikov, Yury A. Seliverstov, Sergey Nikolaevich Illarioshkin, Дадали Елена Леонидовна, Oksana M. Drapkina · 2021 · Rational Pharmacotherapy in Cardiology
  44. Ataxia - Practice Essentials and Interventions
    Patricia Bozzetto Ambrosi · 2023 · IntechOpen eBooks
  45. Characteristics of rare diseases
    Gordana Tankovic · 2013 · Elsevier eBooks
  46. Plasma multi-omics analysis reveals very long chain ceramides as validated biomarkers of Friedreich’s ataxia
    Dezhen Wang, Maria Grazia Cotticelli, Blanca E. Himes, David R. Lynch, Clementina Mesaros · 2022 · medRxiv
  47. Deficient Mitochondrial Respiration Impairs Sirtuin Activity in Dorsal Root Ganglia in Friedreich Ataxia Mouse and Cell Models
    Arabela Sanz‐Alcázar, Elena Britti, Fabien Delaspre, Marta Medina‐Carbonero, Maria Pazos-Gil, Jordi Tamarit, Joaquim Ros, Elisa Cabiscol · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  48. FRIEDREICH'S ATAXIA AND ITS CARDIOVASCULAR MANIFESTATIONS
    Bryam Esteban Coello García, Karina Noemí Contreras García, Priscila Jazmín Sarango Lapo, Tatiana Carolina Espinoza Coyago, Johanna Belén Illescas Aguilera, Bonny María Montalván Nivicela, Karen Sofía Suscal Peláez · 2022 · EPRA International Journal of Multidisciplinary Research (IJMR)
  49. Friedreich ataxia - what we have learned in 160 years
    Martin Vališ, Simona Halúsková, David Matyáš, Pavlína Hemerková · 2024 · Neurologie pro praxi
  50. Friedreich's Ataxia in Colombia: A Population‐Based Study of Incidence and Socioeconomic Determinants
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  51. Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA
    Laurie M.C. Kerkhof, Ronald A.M. Buijsen · 2025 · Molecular Therapy — Nucleic Acids
  52. Positron emission tomography reveals increased myocardial glucose uptake in a subset of Friedreich ataxia patients
    Ronald Mark Payne, Thomas M. O’Connell, P. Melanie Pride, Gregg R. Wagner, George Joseph Eckert, Tiffany R. Johnson, Weinian Shou, Gary D. Hutchins · 2025 · Scientific Reports
  53. Development of an AAV-based gene therapy for the ocular phenotype of Friedreich’s ataxia
    Heyu Tang, Siddhant Gupte, Emily Xu, Kaitlyn R. Calabro, Hannah Friend, Sean M. Crosson, Diego S. Fajardo, Zachary Kostamo, Hangning Zhang, James J. Peterson et al. · 2025 · Molecular Therapy
  54. Human pluripotent stem cell models of Friedreich’s ataxia: innovations, considerations, and future perspectives
    Ha Thi Nguyen, Марек Напиерала, Jill S. Napierala · 2026 · Stem Cell Research & Therapy
  55. Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia
    Leire Manrique, Francisco Martínez‐Dubarbie, Ana L. Pelayo‐Negro, N. Benítez Calle, María Victoria Sánchez‐Peláez, Daniel Cota-González, Ruben Loza, Raquel Martinez-Díaz, Juan Irure‐Ventura, Coro Sánchez‐Quintana et al. · 2026 · Journal of Neurology
  56. Edited HSPCs rescue frataxin deficiency and inflammation-driven multisystemic pathology in Friedreich’s ataxia mice
    Anusha Sivakumar, Alexis N. Corl, Keneth Jordan Muñoz, Subhashini Arumugam, Betul Beyza Gunes, Angelyn B. Solis, Rishika Murthy, Lilas Rony El-Hachem, Donald P. Pizzo, Ian A. Blair et al. · 2026 · Journal of Clinical Investigation
  57. New advances in the treatment of Friedreich ataxia: promises and pitfalls
    Wolfgang Nachbauer, Sylvia Boesch · 2011 · Clinical Investigation
  58. Acoustic Analysis of Prolonged Vowels In Adolescents and Young Adults With Friedreich's Ataxia
    Kaylea Hardin-Hollingsworth · 2014 · Journal of International Crisis and Risk Communication Research
  59. ATAXIAS HEREDITÁRIAS AUTOSSÔMICAS RECESSIVAS: UMA REVISÃO NARRATIVA
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  60. Autosomal and X-Linked Degenerative Ataxias: From Genetics to Promising Therapeutics
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  61. Peripheral Nerve Involvement in Friedreich's Ataxia Characterized by Quantitative Magnetic Resonance Neurography
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  62. Case Report: Complex cardiac arrhythmia management in the ICU for an adolescent with Friedreich ataxia
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  70. Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomers
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  71. Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich’s ataxia
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  72. Altered calcium responses and antioxidant properties in Friedreich’s ataxia-like cerebellar astrocytes
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