Works matching Friedreich's ataxia

Results: 2022

Onset features and time to diagnosis in Friedreich's Ataxia.

Published in:

2020

By:

Indelicato, Elisabetta;
Nachbauer, Wolfgang;
Eigentler, Andreas;
Amprosi, Matthias;
Matteucci Gothe, Raffaella;
Giunti, Paola;
Mariotti, Caterina;
Arpa, Javier;
Durr, Alexandra;
Klopstock, Thomas;
Schöls, Ludger;
Giordano, Ilaria;
Bürk, Katrin;
Pandolfo, Massimo;
Didszdun, Claire;
Schulz, Jörg B.;
Boesch, Sylvia;
EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)

Publication type:

journal article

Aspectos clínicos y moleculares de la ataxia de Friedreich y otras ataxias recesivas y esporádicas.

Published in:

Archivos de Neurociencias, 2007, v. 12, n. 4, p. 239

By:

Fragoso-Benitez, Marcela;
López, Marisol;
Alonso, María Elisa;
Rasmussen, Astrid

Publication type:

Article

EFEITOS DE UMA INTERVENÇÃO FISIOTERAPÊUTICA SOBRE A FUNCIONALIDADE E O EQUILÍBRIO NA ATAXIA DE FRIEDREICH: UM RELATO DE CASO.

Published in:

Revista Movimenta, 2023, v. 16, n. 2, p. 211

By:

Pez Fagundes, Roberta;
Tibolla, Tainá;
Amarante de Lara, Bernardo

Publication type:

Article

Friedreich's ataxia – a case of aberrant transcription termination?

Published in:

Transcription (2154-1264), 2015, v. 6, n. 2, p. 33, doi. 10.1080/21541264.2015.1026538

By:

Butler, Jill Sergesketter;
Napierala, Marek

Publication type:

Article

Cognition in Late-Onset Friedreich Ataxia.

Published in:

Cerebellum, 2013, v. 12, n. 4, p. 504, doi. 10.1007/s12311-013-0457-z

By:

Nieto, Antonieta;
Correia, Rut;
Nóbrega, Erika;
Montón, Fernando;
Barroso, Jose

Publication type:

Article

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

Published in:

Journal of Neurology, 2017, v. 264, n. 8, p. 1768, doi. 10.1007/s00415-017-8566-0

By:

Tai, Geneieve;
Yiu, Eppie;
Delatycki, Martin;
Corben, Louise

Publication type:

Article

Friedreich ataxia--update on pathogenesis and possible therapies.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 1, doi. 10.1007/s10048-003-0170-z

By:

Voncken, Max;
Ioannou, Panos;
Delatycki, Martin B.

Publication type:

Article

Quetiapine Treatment for Psychosis in Friedreich's Ataxia.

Published in:

Klinik Psikofarmakoloji Bulteni, 2012, v. 22, n. 4, p. 357, doi. 10.5455/bcp.20120729093746

By:

Oruc, Serdar;
Gulseren, Guray;
Kusbeci, Ozge Yilmaz;
Yaman, Mehmet;
Gecici, Omer

Publication type:

Article

Auditory Perception in Individuals with Friedreich’s Ataxia.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 4, p. 229, doi. 10.1159/000255341

By:

Rance, Gary;
Corben, Louise;
Barker, Elizabeth;
Carew, Peter;
Chisari, Donella;
Rogers, Meghan;
Dowell, Richard;
Jamaluddin, Saiful;
Bryson, Rochelle;
Delatycki, Martin B.

Publication type:

Article

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1270296

By:

Paparella, Gabriella;
Stragà, Cristina;
Vavla, Marinela;
Pesenti, Nicola;
Merotto, Vasco;
Martorel, Gian A.;
Zalunardo, Sara;
Armellin, Maria;
Comiotto, Jimmy;
Martinuzzi, Andrea

Publication type:

Article

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich's ataxia.

Published in:

2016

By:

Anderson, Heather N.;
Burkhart, Harold M.;
Johnson, Jonathan N.

Publication type:

journal article

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

Published in:

Clinical Rehabilitation, 2018, v. 32, n. 5, p. 630, doi. 10.1177/0269215517736903

By:

Milne, Sarah C.;
Corben, Louise A.;
Roberts, Melissa;
Murphy, Anna;
Tai, Geneieve;
Georgiou-Karistianis, Nellie;
Yiu, Eppie M.;
Delatycki, Martin B.

Publication type:

Article

Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia.

Published in:

Acta Neuropathologica, 2010, v. 120, n. 1, p. 97, doi. 10.1007/s00401-010-0675-0

By:

Morral, Jennifer A.;
Davis, Ashley N.;
Jiang Qian;
Gelman, Benjamin B.;
Koeppen, Arnulf H.

Publication type:

Article

Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich’s ataxia iPSC-derived neurons.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1323491

By:

Priyanka Mishra;
Anusha Sivakumar;
Avalon Johnson;
Carla Pernaci;
Anna S. Warden;
Lilas Rony El-Hachem;
Emily Hansen;
Rafael A. Badell-Grau;
Veenita Khare;
Gabriela Ramirez;
Sydney Gillette;
Angelyn B. Solis;
Peng Guo;
Nicole Coufal;
Stephanie Cherqui

Publication type:

Article

Stem Cells from Wildtype and Friedreich’s Ataxia Mice Present Similar Neuroprotective Properties in Dorsal Root Ganglia Cells

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062807

By:

Jones, Jonathan;
Estirado, Alicia;
Redondo, Carolina;
Martinez, Salvador

Publication type:

Article

Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia.

Published in:

Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae170

By:

Koka, Mert;
Li, Hui;
Akther, Rumana;
Perlman, Susan;
Wong, Darice;
Fogel, Brent L;
Lynch, David R;
Chandran, Vijayendran

Publication type:

Article

Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study.

Published in:

Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2018, v. 64, n. 3, p. 230, doi. 10.5606/tftrd.2018.2213

By:

Doğan-Aslan, Meryem;
Büyükvural-Şen, Sıdıka;
Nakipoğlu-Yüzer, Güldal Funda;
Özgirgin, Neşe

Publication type:

Article

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.

Published in:

2016

By:

Mascalchi, Mario;
Toschi, Nicola;
Giannelli, Marco;
Ginestroni, Andrea;
Della Nave, Riccardo;
Tessa, Carlo;
Piacentini, Silvia;
Dotti, Maria Teresa;
Aiello, Marco;
Nicolai, Emanuele;
Soricelli, Andrea;
Salvi, Fabrizio;
Diciotti, Stefano

Publication type:

journal article

Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 1184, doi. 10.1007/s12311-023-01621-6

By:

Gavriilaki, Maria;
Chatzikyriakou, Evangelia;
Moschou, Maria;
Arnaoutoglou, Marianthi;
Sakellari, Ioanna;
Kimiskidis, Vasilios K.

Publication type:

Article

Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia.

Published in:

Cerebellum, 2017, v. 16, n. 4, p. 757, doi. 10.1007/s12311-017-0848-7

By:

Corben, Louise;
Klopper, Felicity;
Stagnitti, Monique;
Georgiou-Karistianis, Nellie;
Bradshaw, John;
Rance, Gary;
Delatycki, Martin

Publication type:

Article

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Published in:

Cerebellum, 2017, v. 16, n. 2, p. 599, doi. 10.1007/s12311-016-0822-9

By:

Salomão, Rubens;
Gama, Maria;
Rezende Filho, Flávio;
Maggi, Fernanda;
Pedroso, José;
Barsottini, Orlando

Publication type:

Article

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.

Published in:

Cerebellum, 2017, v. 16, n. 1, p. 253, doi. 10.1007/s12311-015-0755-8

By:

Martinez, Alberto;
Moro, Adriana;
Abrahao, Agessandro;
Faber, Ingrid;
Borges, Conrado;
Rezende, Thiago;
Martins, Carlos;
Moscovich, Mariana;
Munhoz, Renato;
Segal, Sandra;
Arruda, Walter;
Saraiva-Pereira, Maria;
Karuta, Simone;
Pedroso, José;
D'Abreu, Anelyssa;
Jardim, Laura;
Lopes-Cendes, Íscia;
Barsottini, Orlando;
Teive, Hélio;
França, Marcondes

Publication type:

Article

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia.

Published in:

Cerebellum, 2014, v. 13, n. 6, p. 677, doi. 10.1007/s12311-014-0583-2

By:

Milne, Sarah;
Hocking, Darren;
Georgiou-Karistianis, Nellie;
Murphy, Anna;
Delatycki, Martin;
Corben, Louise

Publication type:

Article

Neuroanatomical Correlates of Depression in Friedreich's Ataxia: a Voxel-Based Morphometry Study.

Published in:

Cerebellum, 2013, v. 12, n. 3, p. 429, doi. 10.1007/s12311-012-0424-0

By:

Silva, Cynthia;
Yasuda, Clarissa;
D'Abreu, Anelyssa;
Cendes, Fernando;
Lopes-Cendes, Iscia;
França, Marcondes

Publication type:

Article

Spinal Cord Atrophy Correlates with Disability in Friedreich's Ataxia.

Published in:

Cerebellum, 2013, v. 12, n. 1, p. 43, doi. 10.1007/s12311-012-0390-6

By:

Chevis, Camila;
Silva, Cynthia;
D'Abreu, Anelyssa;
Lopes-Cendes, Iscia;
Cendes, Fernando;
Bergo, Felipe;
França, Marcondes

Publication type:

Article

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia.

Published in:

Cerebellum, 2011, v. 10, n. 1, p. 1, doi. 10.1007/s12311-010-0212-7

By:

Velasco-Sánchez, Daniel;
Aracil, Asuncion;
Montero, Raquel;
Mas, Ana;
Jiménez, Lorenzo;
O'Callaghan, Mar;
Tondo, Maria;
Capdevila, Antoni;
Blanch, Josep;
Artuch, Rafael;
Pineda, Mercedes

Publication type:

Article

Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms.

Published in:

Cerebellum, 2011, v. 10, n. 1, p. 81, doi. 10.1007/s12311-010-0232-3

By:

Akhlaghi, Hamed;
Corben, Louise;
Georgiou-Karistianis, Nellie;
Bradshaw, John;
Storey, Elsdon;
Delatycki, Martin;
Egan, Gary

Publication type:

Article

Friedreich’s Ataxia: From the (GAA)<sub> n</sub> Repeat Mediated Silencing to New Promising Molecules for Therapy.

Published in:

Cerebellum, 2009, v. 8, n. 3, p. 245, doi. 10.1007/s12311-008-0084-2

By:

Marmolino, Daniele;
Acquaviva, Fabio

Publication type:

Article

Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.

Published in:

Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.874768

By:

Wang, Qingqing;
Laboureur, Laurent;
Weng, Liwei;
Eskenazi, Nicolas M.;
Hauser, Lauren A.;
Mesaros, Clementina;
Lynch, David R.;
Blair, Ian A.

Publication type:

Article

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 259, doi. 10.1093/brain/aws309

By:

Metz, Günther;
Coppard, Nicholas;
Cooper, Jonathon M.;
Delatycki, Martin B.;
Dürr, Alexandra;
Di Prospero, Nicholas A.;
Giunti, Paola;
Lynch, David R.;
Schulz, J. B.;
Rummey, Christian;
Meier, Thomas

Publication type:

Article

Cardiomyopathy of Friedreich's Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development.

Published in:

Pediatric Cardiology, 2011, v. 32, n. 3, p. 366, doi. 10.1007/s00246-011-9943-6

By:

Payne, R.;
Pride, P.;
Babbey, Clifford

Publication type:

Article

The Longitudinal Course of Cardiomyopathy in Friedreich’s Ataxia During Childhood.

Published in:

Pediatric Cardiology, 2009, v. 30, n. 3, p. 306, doi. 10.1007/s00246-008-9305-1

By:

Kipps, Alaina;
Alexander, Mark;
Colan, Steven D.;
Gauvreau, Kimberlee;
Smoot, Leslie;
Crawford, Lisa;
Darras, Basil T.;
Blume, Elizabeth D.

Publication type:

Article

Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0326-3

By:

Kemp, Kevin C.;
Cook, Amelia J.;
Redondo, Juliana;
Kurian, Kathreena M.;
Scolding, Neil J.;
Wilkins, Alastair

Publication type:

Article

Identical mutation associated with distinct clinical phenotypes of Friedreich's ataxia: case report.

Published in:

2014

By:

Malenica, Maša;
Kukuruzović, Monika;
Bitanga, Suzana;
Krakar, Goran;
Valent, Bernardica;
Cvitanović-Šojat, Ljerka

Publication type:

Case Study

Increased Prevalence 12308 A > G mutation in Mitochondrial tRNA<sup>Leu (CUN)</sup> Gene Associated with earlier Age of Onset in Friedreich Ataxia.

Published in:

Iranian Journal of Child Neurology, 2011, v. 5, n. 4, p. 25

By:

Heidari, Mohammad Mehdi;
Khatami, Mehri;
Houshmand, Massoud;
Mahmoudi, Eisa;
Nafissi, Shahriar

Publication type:

Article

Friedreich ataxia in Norway -- an epidemiological, molecular and clinical study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0328-4

By:

Wedding, Iselin Marie;
Kroken, Mette;
Henriksen, Sandra Pilar;
Selmer, Kaja Kristine;
Fiskerstrand, Torunn;
Knappskog, Per Morten;
Berge, Tone;
Tallaksen, Chantal M. E.

Publication type:

Article

Adenosine Improves Mitochondrial Function and Biogenesis in Friedreich's Ataxia Fibroblasts Following L-Buthionine Sulfoximine-Induced Oxidative Stress.

Published in:

Biology (2079-7737), 2023, v. 12, n. 4, p. 559, doi. 10.3390/biology12040559

By:

Lew, Sze Yuen;
Mohd Hisam, Nur Shahirah;
Phang, Michael Weng Lok;
Syed Abdul Rahman, Syarifah Nur;
Poh, Rozaida Yuen Ying;
Lim, Siew Huah;
Kamaruzzaman, Mohd Amir;
Chau, Sze Chun;
Tsui, Ka Chun;
Lim, Lee Wei;
Wong, Kah Hui

Publication type:

Article

Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup.

Published in:

Hippokratia, 2013, v. 17, n. 1, p. 38

By:

Muthuswamy, S.;
Agarwal, S.;
Dalal, A. R.

Publication type:

Article

A longitudinal study of the SF-36 version 2 in Friedreich ataxia.

Published in:

Acta Neurologica Scandinavica, 2017, v. 136, n. 1, p. 41, doi. 10.1111/ane.12693

By:

Tai, G.;
Corben, L. A.;
Yiu, E. M.;
Delatycki, M. B.

Publication type:

Article

Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70011

By:

Lischewski, Stella Andrea;
Konrad, Kerstin;
Dogan, Imis;
Didszun, Claire;
Costa, Ana Sofia;
Schawohl, Sara Annabelle;
Giunti, Paola;
Parkinson, Michael H.;
Mariotti, Caterina;
Nanetti, Lorenzo;
Durr, Alexandra;
Ewenczyk, Claire;
Boesch, Sylvia;
Nachbauer, Wolfgang;
Klopstock, Thomas;
Stendel, Claudia;
de Rivera Garrido, Francisco Javier Rodríguez;
Schöls, Ludger;
Fleszar, Zofia;
Klockgether, Thomas

Publication type:

Article

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.

Published in:

European Journal of Neurology, 2014, v. 21, n. 8, p. 1131, doi. 10.1111/ene.12448

By:

Bonilha da Silva, C.;
Bergo, F. P. G.;
D'Abreu, A.;
Cendes, F.;
Lopes ‐ Cendes, I.;
França, M. C.

Publication type:

Article

Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.

Published in:

Neurological Sciences, 2013, v. 34, n. 8, p. 1459, doi. 10.1007/s10072-013-1402-0

By:

Clemm von Hohenberg, Christian;
Schocke, Michael;
Wigand, Marlene;
Nachbauer, Wolfgang;
Guttmann, Charles;
Kubicki, Marek;
Shenton, Martha;
Boesch, Sylvia;
Egger, Karl

Publication type:

Article

FRIEDREICH ATAXIA -- A CASE REPORT.

Published in:

Nitte University Journal of Health Science, 2014, v. 4, n. 2, p. 133

By:

Deepthi R. V.;
Pavanam, Seema;
Shenoy, Vijaya;
Joshi, Siddarth S.

Publication type:

Article

Glutathione in blood of patients with Friedreich's ataxia.

Published in:

European Journal of Clinical Investigation, 2001, v. 31, n. 11, p. 1007, doi. 10.1046/j.1365-2362.2001.00922.x

By:

Piemonte, F.;
Pastore, A.;
Tozzi, G.;
Tagliacozzi, D.;
Santorelli, F. M.;
Carrozzo, R.;
Casali, C.;
Damiano, M.;
Federici, G.;
Bertini, E.

Publication type:

Article

Open-label pilot study of interferon gamma-1b in Friedreich ataxia.

Published in:

Acta Neurologica Scandinavica, 2015, v. 132, n. 1, p. 7, doi. 10.1111/ane.12337

By:

Seyer, L.;
Greeley, N.;
Foerster, D.;
Strawser, C.;
Gelbard, S.;
Dong, Y.;
Schadt, K.;
Cotticelli, M. G.;
Brocht, A.;
Farmer, J.;
Wilson, R. B.;
Lynch, D. R.

Publication type:

Article

MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias.

Published in:

Acta Neurologica Scandinavica, 2012, v. 126, n. 2, p. 138, doi. 10.1111/j.1600-0404.2011.01620.x

By:

Hadjivassiliou, M.;
Wallis, L. I.;
Hoggard, N.;
Grünewald, R. A.;
Griffiths, P. D.;
Wilkinson, I. D.

Publication type:

Article

Expanded GAA repeats and clinical variation in Friedreich's ataxia.

Published in:

Acta Neurologica Scandinavica, 2004, v. 109, n. 1, p. 75, doi. 10.1034/j.1600-0404.2003.00190.x

By:

Mateo, I.;
Llorca, J.;
Volpini, V.;
Corral, J.;
Berciano, J.;
Combarros, 0.

Publication type:

Article

Molecular analysis of Friedreich's ataxia locus in the Indian population.

Published in:

Acta Neurologica Scandinavica, 2000, v. 102, n. 4, p. 227, doi. 10.1034/j.1600-0404.2000.102004227.x

By:

Mukerji, M.;
Choudhry, S.;
Saleem, Q.;
Padma, M. V.;
Maheshwari, M. C.;
Jain, S.

Publication type:

Article

Comorbid Medical Conditions in Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408

By:

Shinnick, Julianna E.;
Schadt, Kimberly;
Strawser, Cassandra;
Wilcox, Nicholas;
Perlman, Susan L.;
Wilmot, George R.;
Gomez, Christopher M.;
Mathews, Katherine D.;
Yoon, Grace;
Zesiewicz, Theresa;
Hoyle, Chad;
Subramony, S. H.;
Yiu, Eppie M.;
Delatycki, Martin B.;
Brocht, Alicia F.;
Farmer, Jennifer M.;
Lynch, David R.

Publication type:

Article

Clinical Experience With Deferiprone Treatment for Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 8, p. 1036, doi. 10.1177/0883073816636087

By:

Elincx-Benizri, Sandra;
Glik, Amir;
Merkel, Drorit;
Arad, Michael;
Freimark, Dov;
Kozlova, Evgenia;
Cabantchik, Ioav;
Hassin-Baer, Sharon

Publication type:

Article