Works about FRIEDREICH'S ataxia

Results: 1183

Beneficial response to 4-aminopyridine in a case of autosomal recessive spinocerebellar ataxia 23 (SCAR23).

Published in:

2025

By:

Santens, Patrick;
Bruggeman, Arnout

Publication type:

Letter

Anesthetic management in Friedreich's ataxia.

Published in:

2005

By:

Pancaro, Carlo;
Renz, Dieter

Publication type:

Letter

Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction.

Published in:

PLoS Biology, 2006, v. 4, n. 3, p. 432, doi. 10.1371/journal.pbio.0040067

By:

Helmlinger, Dominique;
Hardy, Sara;
Abou-Sleymane, Gretta;
Eberlin, Adrien;
Bowman, Aaron B.;
Gansmüller, Anne;
Picaud, Serge;
Zoghbi, Huda Y.;
Trottier, Yvon;
Tora, Làszlò;
Devys, Didier

Publication type:

Article

Manifestaciones disautonómicas en sujetos presintomáticos y enfermos de ataxia espinocerebelosa tipo 2.

Published in:

Revista Mexicana de Neurociencia, 2011, v. 12, n. 2, p. 76

By:

Montes Brown, Julio;
Almaguer Medero, L. E.;
Estévez Báez, Mario

Publication type:

Article

Subclinical rhythmic electrographic discharge of adults (SREDA) in a case with spinocerebellar degeneration improved clinically by thyrotropin-releasing hormone.

Published in:

Psychogeriatrics, 2009, v. 9, n. 1, p. 34, doi. 10.1111/j.1479-8301.2008.00260.x

By:

Fukuta, Mayuko;
Kirino, Eiji;
Inoue, Reiichi;
Arai, Heii

Publication type:

Article

Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy.

Published in:

Child's Nervous System, 2020, v. 36, n. 11, p. 2801, doi. 10.1007/s00381-020-04571-0

By:

McKinney, Jennifer L.;
Islam, Monica P.

Publication type:

Article

Etiology and Course of Cerebellar Ataxia: A Study from Eastern India.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, n. 4, p. 591, doi. 10.4103/mjdrdypu.mjdrdypu_314_21

By:

Bhuin, Subhas;
Biswas, Samar;
Roy, Arijit;
Mukherjee, Adreesh;
Pandit, Alak;
Gangopadhyay, Goutam

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

Brain MRI detects early-stage alterations and disease progression in Friedreich ataxia.

Published in:

Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad196

By:

Adanyeguh, Isaac M.;
Joers, James M.;
Deelchand, Dinesh K.;
Hutter, Diane H.;
Eberly, Lynn E.;
Guo, Bin;
Iltis, Isabelle;
Bushara, Khalaf O.;
Henry, Pierre-Gilles;
Lenglet, Christophe

Publication type:

Article

Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation.

Published in:

Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad020

By:

Uppili, Bharathram;
Sharma, Pooja;
Ahmad, Istaq;
Sahni, Shweta;
Asokachandran, Vivekanand;
Nagaraja, Anil B.;
Srivastava, Achal K.;
Faruq, Mohammed

Publication type:

Article

Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.

Published in:

Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcad007

By:

Dionisi, Chiara;
Chazalon, Marine;
Rai, Myriam;
Keime, Céline;
Imbault, Virginie;
Communi, David;
Puccio, Hélène;
Schiffmann, Serge N.;
Pandolfo, Massimo

Publication type:

Article

Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia.

Published in:

Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac246

By:

Joers, James M.;
Adanyeguh, Isaac M.;
Deelchand, Dinesh K.;
Hutter, Diane H.;
Eberly, Lynn E.;
Iltis, Isabelle;
Bushara, Khalaf O.;
Lenglet, Christophe;
Henry, Pierre-Gilles

Publication type:

Article

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.

Published in:

Eye (0950-222X), 2009, v. 23, n. 12, p. 2251, doi. 10.1038/eye.2008.389

By:

Self, J.;
Mercer, C.;
Boon, E. M. J.;
Murugavel, M;
Shawkat, F;
Hammans, S;
Hodgkins, P;
Griffiths, H;
Lotery, A

Publication type:

Article

Structural Studies on DNA Triple Helix Formed by Intronic GAA Triplet Repeat Expansion in Friedreich's Ataxia.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2003, v. 22, n. 5-8, p. 1517, doi. 10.1081/NCN-120023024

By:

Jain, Aklank;
Ahmad, Faizan;
Rajeswari, Moganty R.

Publication type:

Article

Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia.

Published in:

Turkish Journal of Medical Sciences, 2023, v. 53, n. 5, p. 1301, doi. 10.55730/1300-0144.5696

By:

YETKİN, Nur Aleyna;
YETKİN, Mehmet Fatih;
BARAN KETENCİOĞLU, Burcu;
OYMAK, Fatma Sema;
GÜLMEZ, İnci;
YILMAZ, İnsu;
TUTAR, Nuri

Publication type:

Article

Reduced expression of frataxin extends the lifespan ofCaenorhabditis elegans.

Published in:

2005

By:

Ventura, Natascia;
Rea, Shane;
Henderson, Samuel T.;
Condo, Ivano;
Johnson, Thomas E.;
Testi, Roberto

Publication type:

Other

Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.

Published in:

Archives of Clinical Neuropsychology, 2022, v. 37, n. 5, p. 904, doi. 10.1093/arclin/acac024

By:

García, Maitane;
Rouco-Axpe, Idoia;
Amayra, Imanol;
Rodríguez-Antigüedad, Alfredo;
Catalli, Claudio;
Cabrera-Zubizarreta, Alberto;
Rodríguez, Alicia Aurora;
Pérez, Manuel

Publication type:

Article

A-093 Neuropsychological Functioning in an 8-year-old female with Friedreich's Ataxia.

Published in:: 2020
Publication type:: Abstract

Isabella, la artesana.

Published in:

ESPIRAL: Revista de Docencia e Investigación, 2024, v. 14, n. 2, p. 1

By:

Taborda Tirado, Natalia

Publication type:

Article

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

Published in:: 2016
Publication type:: Correction Notice

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

Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0288-5

By:

Koeppen, Arnulf H.;
Ramirez, R. Liane;
Becker, Alyssa B.;
Mazurkiewicz, Joseph E.

Publication type:

Article

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2093

By:

Angulo, Mariana B.;
Bertalovitz, Alexander;
Argenziano, Mariana A.;
Yang, Jiajia;
Patel, Aarti;
Zesiewicz, Theresa;
McDonald, Thomas V.

Publication type:

Article

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1420

By:

Zhang, Linwei;
Ashizawa, Tetsuo;
Peng, Dantao

Publication type:

Article

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1341

By:

Morales‐Rosado, Joel A.;
Macke, Erica L.;
Cousin, Margot A.;
Oliver, Gavin R.;
Dhamija, Radhika;
Klee, Eric W.

Publication type:

Article

Toxicity and Endocytosis of Spinocerebellar Ataxia Type 6 Polyglutamine Domains: Role of Myosin IIB.

Published in:

Traffic, 2008, v. 9, n. 7, p. 1088, doi. 10.1111/j.1600-0854.2008.00743.x

By:

Marquèze-Pouey, Béatrice;
Martin-Moutot, Nicole;
Sakkou-Norton, Marie;
Lévêque, Christian;
Yong Ji;
Cornet, Véronique;
Hsiao, Wendy L.;
Seagar, Michael

Publication type:

Article

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.

Published in:

Pediatric Diabetes, 2015, v. 16, n. 1, p. 1, doi. 10.1111/pedi.12223

By:

Karaa, Amel;
Goldstein, Amy

Publication type:

Article

A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1352311

By:

Yi Na Dong;
Ngaba, Lucie Vanessa;
An, Jacob;
Adeshina, Miniat W.;
Warren, Nathan;
Wong, Johnathan;
Lynch, David R.

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

Emerging antioxidant therapies in Friedreich's ataxia.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1359618

By:

Edzeamey, Fred Jonathan;
Ramchunder, Zenouska;
Pourzand, Charareh;
Virmouni, Sara Anjomani

Publication type:

Article

Neuropsychological Test Performance of Patients With Friedreich'sAtaxia.

Published in:

Journal of Clinical & Experimental Neuropsychology, 2002, v. 24, n. 5, p. 677, doi. 10.1076/jcen.24.5.677.1014

By:

Wollmann, Tone;
Barroso, Jose;
Monton, Fernando I.;
Nieto, Antonieta

Publication type:

Article

Effects of Intensive Exercise on Cognitive Dysfunction in Patients With Pure Cerebellar Degeneration: A Single-Arm Pilot Study.

Published in:

Annals of Rehabilitation Medicine, 2022, v. 46, n. 5, p. 263, doi. 10.5535/arm.22014

By:

Toshiya Shimamoto;
Katsuhisa Uchino;
Akira Mori;
Kengo Nojima;
Junichi Iiyama;
Yohei Misumi;
Mitsuharu Ueda;
Makoto Uchino

Publication type:

Article

Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38961-0

By:

Yadav, Shambhu;
Waldeck-Weiermair, Markus;
Spyropoulos, Fotios;
Bronson, Roderick;
Pandey, Arvind K.;
Das, Apabrita Ayan;
Sisti, Alexander C.;
Covington, Taylor A.;
Thulabandu, Venkata;
Caplan, Shari;
Chutkow, William;
Steinhorn, Benjamin;
Michel, Thomas

Publication type:

Article

Functional and Structural Brain Damage in Friedreich's Ataxia.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00747

By:

Vavla, Marinela;
Arrigoni, Filippo;
Nordio, Andrea;
De Luca, Alberto;
Pizzighello, Silvia;
Petacchi, Elisa;
Paparella, Gabriella;
D'Angelo, Maria Grazia;
Brighina, Erika;
Russo, Emanuela;
Fantin, Marianna;
Colombo, Paola;
Martinuzzi, Andrea

Publication type:

Article

Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease.

Published in:

Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01727-2

By:

You, Hua-Jing;
Fang, Shu-Bin;
Wu, Teng-Teng;
Zhang, Hongyu;
Feng, Yu-Kun;
Li, Xue-Jiao;
Yang, Hui-Hua;
Li, Ge;
Li, Xun-Hua;
Wu, Chao;
Fu, Qing-Ling;
Pei, Zhong

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

Diagnostic Delay and Clinical Features in Friedreich's Ataxia.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2022, v. 28, n. 2, p. 97, doi. 10.4274/tnd.2022.26780

By:

Yetkin, Mehmet Fatih;
Gültekin, Murat;
Akcakoyunlu, Merve;
Baydemir, Recep;
Sarılar, Ayse Çağlar;
Canpolat, Mehmet;
Per, Hüseyin

Publication type:

Article

Abnormal Function of Endocrine Pancreas and Anterior Pituitary in Friedreich's Ataxia.

Published in:

Annals of Internal Medicine, 1978, v. 88, n. 4, p. 478, doi. 10.7326/0003-4819-88-4-478

By:

Bird, Thomas D.;
Turner, John L.;
Sumi, S. Mark;
Bierman, Edwin L.

Publication type:

Article

HISTOLOGICAL CHANGES IN THE SACRAL REGION OF SPINAL CORD IN GOAT FOETUSES<sup>1</sup>.

Published in:

Indian Journal of Animal Research, 2011, v. 45, n. 1, p. 18

By:

Maya, S.;
Chungath, J. J.;
Harshan, K. R.;
Ashok, N.

Publication type:

Article

Patient‐reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 6, p. 533, doi. 10.1111/ane.13088

By:

Cook, Arron;
Boesch, Sylvia;
Heck, Suzette;
Brunt, Ewout;
Klockgether, Thomas;
Schöls, Ludger;
Schulz, Angela;
Giunti, Paola

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

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

Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.

Published in:

Acta Neurologica Scandinavica, 2014, v. 129, n. 1, p. 32, doi. 10.1111/ane.12141

By:

Arpa, J.;
Sanz‐Gallego, I.;
Rodríguez‐de‐Rivera, F. J.;
Domínguez‐Melcón, F. J.;
Prefasi, D.;
Oliva‐Navarro, J.;
Moreno‐Yangüela, M.

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

Heart rate variability in type 2 spinocerebellar ataxia.

Published in:

Acta Neurologica Scandinavica, 2010, v. 122, n. 5, p. 329, doi. 10.1111/j.1600-0404.2009.01320.x

By:

Montes-Brown, J.;
Sánchez-Cruz, G.;
García, A. M.;
Báez, M. E.;
Velázquez-Pérez, L.

Publication type:

Article

Subclinical pulmonary dysfunction in spinocerebellar ataxias 1, 2 and 3.

Published in:

Acta Neurologica Scandinavica, 2010, v. 122, n. 5, p. 323, doi. 10.1111/j.1600-0404.2009.01306.x

By:

Sriranjini, S. J.;
Pal, P. K.;
Krishna, N.;
Sathyaprabha, T. N.

Publication type:

Article

A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias.

Published in:

Acta Neurologica Scandinavica, 2009, v. 120, n. 3, p. 204, doi. 10.1111/j.1600-0404.2008.01144.x

By:

Netravathi, M.;
Sathyaprabha, T. N.;
Jayalaxmi, K.;
Datta, P.;
Nirmala, M.;
Pal, P. K.

Publication type:

Article

Spinocerebellar ataxia type 8 in Scotland: frequency, neurological, neuropsychological and neuropsychiatric findings.

Published in:

Acta Neurologica Scandinavica, 2008, v. 117, n. 1, p. 41, doi. 10.1111/j.1600-0404.2007.00904.x

By:

Torrens, L.;
Burns, E.;
Stone, J.;
Graham, C.;
Wright, H.;
Summers, D.;
Sellar, R.;
Porteous, M.;
Warner, J.;
Zeman, A.

Publication type:

Article

Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.

Published in:

Acta Neurologica Scandinavica, 2007, v. 116, n. 2, p. 123, doi. 10.1111/j.1600-0404.2007.00815.x

By:

Hayashi, M.;
Adachi, Y.;
Mori, M.;
Nakano, T.;
Nakashima, K.

Publication type:

Article

Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells.

Published in:: Journal of Biomedical Science, 2011, v. 18, n. 1, p. 54, doi. 10.1186/1423-0127-18-54
Publication type:: Article