Works matching Friedreich's ataxia

Results: 1443

Mandibular incisor extraction treatment in a young patient with Friedreich’s ataxia: A case report.

Published in:

Clinical Orthodontics, 2023, v. 22, n. 3, p. 91, doi. 10.14436/2675-486X.22.3.091-101.art

By:

Jorge SAAB, Fabio;
FIALHO, Tiago;
Chicarelli TREVISI, Renata;
Pinelli VALARELLI, Fabrício;
Salvatore de FREITAS, Karina Maria;
COTRIN, Paula

Publication type:

Article

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

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

PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy.

Published in:

Cerebellum, 2009, v. 8, n. 2, p. 98, doi. 10.1007/s12311-008-0087-z

By:

Marmolino, Daniele;
Acquaviva, Fabio;
Pinelli, Michele;
Monticelli, Antonella;
Castaldo, Imma;
Filla, Alessandro;
Cocozza, Sergio

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 in a family from Mali, West Africa/Friedreich ataxia in a Malian family.

Published in:

Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4065

By:

Cissé, Cheick A. K.;
Cissé, Lassana;
Ba, Hamidou O.;
Samassékou, Oumar;
Simaga, Assiatou;
Taméga, Abdoulaye;
Diarra, Salimata;
Diallo, Seybou H.;
Coulibaly, Thomas;
Diallo, Salimata;
Yalcouyé, Abdoulaye;
Maiga, Alassane B.;
Keita, Mohamed;
Fischbeck, Kenneth H.;
Traoré, Sékou F.;
Guinto, Cheick O.;
Landouré, Guida

Publication type:

Article

Health-related quality of life and depressive symptoms in Friedreich ataxia.

Published in:

2020

By:

Pérez-Flores, Javier;
Hernández-Torres, Atteneri;
Montón, Fernando;
Nieto, Antonieta

Publication type:

journal article

Voicing status of word final plosives in Friedreich's Ataxia dysarthria.

Published in:

Clinical Linguistics & Phonetics, 2007, v. 21, n. 10, p. 759, doi. 10.1080/02699200701497131

By:

Blaney, B. E.;
Hewlett, N.

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

Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.

Published in:

2012

By:

Snyder, Madeline;
Seyer, Lauren;
Lynch, David R.;
Resnick, Andrew;
Zesiewicz, Theresa A.

Publication type:

Case Study

Therapeutic Developments in Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1212, doi. 10.1177/0883073812449691

By:

Wilson, Robert B.

Publication type:

Article

A Review of Friedreich Ataxia Clinical Trial Results.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1217, doi. 10.1177/0883073812453872

By:

Perlman, Susan L.

Publication type:

Article

Auditory Processing Deficits in Children With Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1197, doi. 10.1177/0883073812448963

By:

Rance, Gary;
Corben, Louise;
Delatycki, Martin

Publication type:

Article

Cardiomyopathy in Friedreich Ataxia: Clinical Findings and Research.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1179, doi. 10.1177/0883073812448535

By:

Payne, R. Mark;
Wagner, Gregory R.

Publication type:

Article

Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1164, doi. 10.1177/0883073812448533

By:

Soragni, Elisabetta;
Xu, Chunping;
Plasterer, Heather L.;
Jacques, Vincent;
Rusche, James R.;
Gottesfeld, Joel M.

Publication type:

Article

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1152, doi. 10.1177/0883073812448462

By:

Regner, Sean R.;
Wilcox, Nicholas S.;
Friedman, Lisa S.;
Seyer, Lauren A.;
Schadt, Kim A.;
Brigatti, Karlla W.;
Perlman, Susan;
Delatycki, Martin;
Wilmot, George R.;
Gomez, Christopher M.;
Bushara, Khalaf O.;
Mathews, Katherine D.;
Subramony, S. H.;
Ashizawa, Tetsuo;
Ravina, Bernard;
Brocht, Alicia;
Farmer, Jennifer M.;
Lynch, David R.

Publication type:

Article

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1187, doi. 10.1177/0883073812448461

By:

Schadt, Kimberly A.;
Friedman, Lisa S.;
Regner, Sean R.;
Mark, George E.;
Lynch, David R.;
Lin, Kimberly Y.

Publication type:

Article

Clinical Monitoring in a Patient With Friedreich Ataxia and Osteogenic Sarcoma.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1159, doi. 10.1177/0883073812448460

By:

Deutsch, Eric C.;
Seyer, Lauren A.;
Perlman, Susan L.;
Yu, Jeanette;
Lynch, David R.

Publication type:

Article

Clinical Features of Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1133, doi. 10.1177/0883073812448230

By:

Delatycki, Martin B.;
Corben, Louise A.

Publication type:

Article

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich's Ataxia.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00872

By:

Vavla, Marinela;
Arrigoni, Filippo;
Toschi, Nicola;
Peruzzo, Denis;
D'Angelo, Maria Grazia;
Gandossini, Sandra;
Russo, Annamaria;
Diella, Eleonora;
Tirelli, Stefania;
Salati, Roberto;
Rufini, Alessandra;
Condo, Ivano;
Testi, Roberto;
Martinuzzi, Andrea

Publication type:

Article

An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00602-y

By:

Vancheri, Chiara;
Quatrana, Andrea;
Morini, Elena;
Mariotti, Caterina;
Mongelli, Alessia;
Fichera, Mario;
Rufini, Alessandra;
Condò, Ivano;
Testi, Roberto;
Novelli, Giuseppe;
Malisan, Florence;
Amati, Francesca

Publication type:

Article

Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 688, doi. 10.1002/mdc3.13204

By:

Tai, Geneieve;
Corben, Louise A.;
Woodcock, Ian R.;
Yiu, Eppie M.;
Delatycki, Martin B.

Publication type:

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

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.

Published in:

Cerebellum, 2022, v. 21, n. 6, p. 963, doi. 10.1007/s12311-021-01348-2

By:

Milne, Sarah C.;
Kim, Seok Hun;
Murphy, Anna;
Larkindale, Jane;
Farmer, Jennifer;
Malapira, Ritchie;
Danoudis, Mary;
Shaw, Jessica;
Ramakrishnan, Tyagi;
Rasouli, Fatemeh;
Yiu, Eppie M.;
Georgiou-Karistianis, Nellie;
Tai, Geneieve;
Zesiewicz, Theresa;
Delatycki, Martin B.;
Corben, Louise A.

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

Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 8, p. 1274, doi. 10.1093/hmg/ddy427

By:

Belbellaa, Brahim;
Reutenauer, Laurence;
Monassier, Laurent;
Puccio, Hélène

Publication type:

Article

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Published in:

Pharmaceuticals (14248247), 2018, v. 11, n. 3, p. 89, doi. 10.3390/ph11030089

By:

Alsina, David;
Purroy, Rosa;
Ros, Joaquim;
Tamarit, Jordi

Publication type:

Article

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153574

By:

Hayashi, Genki;
Cortopassi, Gino

Publication type:

Article

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

Published in:

Journal of Neurology, 2002, v. 249, n. 11, p. 1583, doi. 10.1007/s00415-002-0902-2

By:

Panas, Marios;
Kalfakis, Nikolaos;
Karadima, Georgia;
Davaki, Panagiota;
Vassilopoulos, Demetris

Publication type:

Article

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia.

Published in:

Journal of Neurology, 2000, v. 247, n. 5, p. 346, doi. 10.1007/s004150050601

By:

McCabe, D.J.H.;
Ryan, F.;
Moore, D.P.;
McQuaid, S.;
King, M.D.;
Kelly, A.;
Daly, K.;
Barton, D.E.;
Murphy, R.P.

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

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

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

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

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

Published in:

Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00443

By:

Al-Mahdawi, Sahar;
Ging, Heather;
Bayot, Aurelien;
Cavalcanti, Francesca;
La Cognata, Valentina;
Cavallaro, Sebastiano;
Giunti, Paola;
Pook, Mark 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

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

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

Tachycardiomyopathy Treated With Ablation by Using 3D Mapping System in a Patient With Friedreich Ataxia.

Published in:

Pacing & Clinical Electrophysiology, 2025, v. 48, n. 2, p. 227, doi. 10.1111/pace.15125

By:

Hayıroğlu, Mert İlker;
Kalenderoğlu, Koray;
Gürkan, Kadir

Publication type:

Article

Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03474-6

By:

Umrao, Ankita;
Pahuja, Monika;
Chatterjee, Nabendu Sekhar

Publication type:

Article

Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single‐center, retrospective study.

Published in:

Pediatric Anesthesia, 2024, v. 34, n. 7, p. 654, doi. 10.1111/pan.14896

By:

O'Brien, Elizabeth M.;
Neiswinter, Natalie;
Lin, Kimberly Y.;
Lynch, David;
Baldwin, Keith;
Profeta, Victoria;
Flynn, John M.;
Muhly, Wallis T.

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

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

Evaluation of the Cases with Friedreich Ataxia.

Published in:

Gulhane Medical Journal, 2013, v. 55, n. 2, p. 123, doi. 10.5455/gulhane.39786

By:

Kurul, Semra Hız;
Yiş, Uluç;
Güzel, Ali İrfan;
Kasap, Halil;
Başak, Nazlı;
Dirik, Eray

Publication type:

Article