Works matching DE "FRIEDREICH'S ataxia"

Results: 1185

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

Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich's ataxia - a case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 2, p. 182, doi. 10.2298/VSP220209027S

By:

Samardžić, Vesna

Publication type:

Article

Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 4, p. 486, doi. 10.1038/nsmb.2520

By:

Follonier, Cindy;
Oehler, Judith;
Herrador, Raquel;
Lopes, Massimo

Publication type:

Article

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 4, p. 390, doi. 10.1038/nsmb.1579

By:

Adinolfi, Salvatore;
Iannuzzi, Clara;
Prischi, Filippo;
Pastore, Chiara;
Iametti, Stefania;
Martin, Stephen R.;
Bonomi, Franco;
Pastore, Annalisa

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

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.

Published in:

2007

By:

Watase, Kei;
Gatchel, Jennifer R.;
Sun, Yaling;
Emamian, Effat;
Atkinson, Richard;
Richman, Ronald;
Mizusawa, Hidehiro;
Orr, Harry T.;
Shaw, Chad;
Zoghbi, Huda Y.

Publication type:

journal article

White Matter Mineralization in an Adolescent Girl with Vanishing White Matter Disease.

Published in:

Neurology India, 2024, v. 72, n. 3, p. 684, doi. 10.4103/neurol-india.Neurol-India-D-24-00070

By:

Choudhary, Puneet K.;
Mahesan, Aakash;
Kamila, Gautam;
Meena, Ankit K.;
Jauhari, Prashant;
Chakrabarty, Biswaroop;
Kumar, Atin;
Gulati, Sheffali

Publication type:

Article

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.

Published in:

2022

By:

Balakrishnan, Surya;
Aggarwal, Shagun;
Muthulakshmi, Mayandi;
Meena, Angamuthu;
Borgohain, Rupam;
Mridula, Kandadai;
Yareeda, Sireesha;
Ranganath, Prajnya;
Dalal, Ashwin;
Meena, Angamuthu Kanikannan;
Mridula, Kandadai Rukmini

Publication type:

Journal Article

Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations.

Published in:

2021

By:

Boll, Marie;
Gasca-Saldaa, Dianela;
Mayn-Lobo, Yerye;
Dávila-Ortiz de Montellano, David;
Monroy-Jaramillo, Nancy;
Boll, Marie Catherine;
Gasca-Saldaña, Dianela;
Mayén-Lobo, Yerye Gibrán;
Dávila-Ortiz de Montellano, David José

Publication type:

journal article

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 5, p. 257, doi. 10.1007/s10815-009-9325-7

By:

Yen-Chein Lai;
Wen-Chung Wang;
Jiann-Jou Yang;
Shuan-Yow Li

Publication type:

Article

Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.

Published in:

BioMetals, 2019, v. 32, n. 2, p. 307, doi. 10.1007/s10534-019-00186-4

By:

Pathak, Deepti;
Srivastava, Achal Kumar;
Gulati, Sheffali;
Rajeswari, Moganty R.

Publication type:

Article

Triphenylphosphonium-desferrioxamine as a candidate mitochondrial iron chelator.

Published in:

BioMetals, 2017, v. 30, n. 5, p. 709, doi. 10.1007/s10534-017-0039-5

By:

Alta, Roxana;
Vitorino, Hector;
Goswami, Dibakar;
Terêsa Machini, M.;
Espósito, Breno

Publication type:

Article

Hepcidin and its therapeutic potential in neurodegenerative disorders.

Published in:

Medicinal Research Reviews, 2020, v. 40, n. 2, p. 633, doi. 10.1002/med.21631

By:

Qian, Zhong‐Ming;
Ke, Ya

Publication type:

Article

Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.

Published in:

Pediatric Cardiology, 2022, v. 43, n. 1, p. 27, doi. 10.1007/s00246-021-02686-y

By:

Almogheer, Batool;
Antonopoulos, Alexios S.;
Azzu, Alessia;
Al Mohdar, Safaa;
Vlachopoulos, Charalambos;
Pantazis, Antonios;
Mohiaddin, Raad H.

Publication type:

Article

Myocardial Perfusion Reserve in Children with Friedreich Ataxia.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 8, p. 1834, doi. 10.1007/s00246-021-02675-1

By:

Hutchens, Jeffrey A.;
Johnson, Tiffanie R.;
Payne, R. Mark

Publication type:

Article

Large arterial ring formed by a duplicate origin of the middle cerebral artery (MCA) with a frontal branch arising from the superior channel of the ring (main MCA) diagnosed by magnetic resonance angiography.

Published in:

Surgical & Radiologic Anatomy, 2025, v. 47, n. 1, p. 1, doi. 10.1007/s00276-024-03515-6

By:

Uchino, Akira;
Kimura, Hiroshi

Publication type:

Article

Control of arm movements in Friedreich's ataxia patients: role of sensory feedback.

Published in:

Experimental Brain Research, 2022, v. 240, n. 5, p. 1411, doi. 10.1007/s00221-022-06343-5

By:

Zhang, Lei;
Straube, Andreas;
Eggert, Thomas

Publication type:

Article

Feedforward postural muscle modes and multi-mode coordination in mild cerebellar ataxia.

Published in:

Experimental Brain Research, 2011, v. 210, n. 1, p. 153, doi. 10.1007/s00221-011-2613-3

By:

Asaka, Tadayoshi;
Wang, Yun

Publication type:

Article

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.

Published in:

2016

By:

Nair, Pratibha;
Hamzeh, abdul Rezzak;
Mohamed, Madiha;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal 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

Vitamins Supplementation for Nerve Regeneration: A Systematic Review of Clinical Evidence.

Published in:

Trends in Sciences, 2025, v. 22, n. 4, p. 1, doi. 10.48048/tis.2025.9421

By:

Fillah, Asyirah Mujahidah;
Waafi, Afiyfah Kiysa;
d'Arqom, Annette;
Qorib, Mohammad Fathul;
Rimbun;
Abdul Kadir, Sharifah Zamiah Syed

Publication type:

Article

Analytical Method and Stability Study for Oral Suspension of Idebenone in Syrspend.

Published in:

Separations (2297-8739), 2023, v. 10, n. 9, p. 517, doi. 10.3390/separations10090517

By:

Porru, Emanuele;
Piro, Filomena;
Comito, Rossana;
Mosendz, Anastasiia;
Minniti, Elirosa;
Conti, Matteo;
Stancari, Alessandra;
Violante, Francesco Saverio

Publication type:

Article

The DST gene in neurobiology.

Published in:

Journal of Neurogenetics, 2023, v. 37, n. 4, p. 131, doi. 10.1080/01677063.2024.2319880

By:

Lalonde, Robert;
Strazielle, Catherine

Publication type:

Article

Premutations in the FMR1 Gene are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia.

Published in:

Journal of Neurogenetics, 2008, v. 22, n. 1, p. 77, doi. 10.1080/01677060701686242

By:

Adams, Sara A.;
Steenblock, Kelle J.;
Thibodeau, Stephen N.;
Lindor, Noralane M.

Publication type:

Article

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 832, doi. 10.1002/acn3.70008

By:

Rudaks, Laura Ivete;
Stevanovski, Igor;
Yeow, Dennis;
Reis, Andre L. M.;
Chintalaphani, Sanjog R.;
Cheong, Pak Leng;
Gamaarachchi, Hasindu;
Worgan, Lisa;
Ahmad, Kate;
Hayes, Michael;
Hannaford, Andrew;
Kim, Samuel;
Fung, Victor S. C.;
Halmagyi, Gabor M.;
Martin, Andrew;
Manser, David;
Tchan, Michel;
Ng, Karl;
Kennerson, Marina L.;
Deveson, Ira W.

Publication type:

Article

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1290, doi. 10.1002/acn3.52057

By:

Rummey, Christian;
Perlman, Susan;
Subramony, Sub. H.;
Farmer, Jennifer;
Lynch, David R.

Publication type:

Article

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 540, doi. 10.1002/acn3.51971

By:

Clayton, Russell;
Galas, Teresa;
Scherer, Noreen;
Farmer, Jennifer;
Ruiz, Nancy;
Hamdani, Mohamed;
Schecter, Devin;
Bettoun, David

Publication type:

Article

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 2041, doi. 10.1002/acn3.51686

By:

Rummey, Christian;
Harding, Ian H.;
Delatycki, Martin B.;
Tai, Geneieve;
Rezende, Thiago;
Corben, Louise A.

Publication type:

Article

Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1845, doi. 10.1002/acn3.51438

By:

Mueller, Arne;
Paterson, Elaine;
McIntosh, Avery;
Praestgaard, Jens;
Bylo, Mary;
Hoefling, Holger;
Wells, McKenzie;
Lynch, David R.;
Rummey, Christian;
Krishnan, Michelle L.;
Schultz, Meredith;
Malanga, C. J.

Publication type:

Article

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352

By:

Rummey, Christian;
Flynn, John M.;
Corben, Louise A.;
Delatycki, Martin B.;
Wilmot, George;
Subramony, Sub H.;
Bushara, Khalaf;
Duquette, Antoine;
Gomez, Christopher M.;
Hoyle, J. Chad;
Roxburgh, Richard;
Seeberger, Lauren;
Yoon, Grace;
Mathews, Katherine D.;
Zesiewicz, Theresa;
Perlman, Susan;
Lynch, David R.

Publication type:

Article

Test–retest reliability of the Friedreich's ataxia rating scale.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1708, doi. 10.1002/acn3.51118

By:

Rummey, Christian;
Zesiewicz, Theresa A.;
Perez‐Lloret, Santiago;
Farmer, Jennifer M.;
Pandolfo, Massimo;
Lynch, David R.

Publication type:

Article

Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 94, doi. 10.1002/acn3.50966

By:

Naeije, Gilles;
Wens, Vincent;
Coquelet, Nicolas;
Sjøgård, Martin;
Goldman, Serge;
Pandolfo, Massimo;
De Tiège, Xavier P.

Publication type:

Article

Oral mobility reflects rate of progression in advanced Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1888, doi. 10.1002/acn3.50879

By:

Borel, Stéphanie;
Gatignol, Peggy;
Smail, Mustapha;
Monin, Marie‐Lorraine;
Ewenczyk, Claire;
Bouccara, Didier;
Durr, Alexandra

Publication type:

Article

Measuring peripheral nerve involvement in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1718, doi. 10.1002/acn3.50865

By:

Creigh, Peter D.;
Mountain, Joan;
Sowden, Janet E.;
Eichinger, Katy;
Ravina, Bernard;
Larkindale, Jane;
Herrmann, David N.

Publication type:

Article

Identification of a novel missense mutation in Friedreich's ataxia –FXN<sup>W</sup><sup>168R</sup>.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 812, doi. 10.1002/acn3.728

By:

Clark, Elisia;
Strawser, Cassandra;
Schadt, Kimberly;
Lynch, David R.

Publication type:

Article

Cognitive and functional connectivity alterations in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 6, p. 677, doi. 10.1002/acn3.555

By:

Cocozza, Sirio;
Costabile, Teresa;
Tedeschi, Enrico;
Abate, Filomena;
Russo, Camilla;
Liguori, Agnese;
Del Vecchio, Walter;
Paciello, Francesca;
Quarantelli, Mario;
Filla, Alessandro;
Brunetti, Arturo;
Saccà, Francesco

Publication type:

Article

Selected missense mutations impair frataxin processing in Friedreich ataxia.

Published in:: Annals of Clinical & Translational Neurology, 2017, v. 4, n. 10, p. 764, doi. 10.1002/acn3.490
Publication type:: Article

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 622, doi. 10.1002/acn3.439

By:

McCormick, Ashley;
Farmer, Jennifer;
Perlman, Susan;
Delatycki, Martin;
Wilmot, George;
Matthews, Katherine;
Yoon, Grace;
Hoyle, Chad;
Subramony, Sub H.;
Zesiewicz, Theresa;
Lynch, David R.;
McCormack, Shana E.

Publication type:

Article

Selected missense mutations impair frataxin processing in Friedreich ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 8, p. 575, doi. 10.1002/acn3.433

By:

Clark, Elisia;
Butler, Jill S.;
Isaacs, Charles J.;
Napierala, Marek;
Lynch, David R.

Publication type:

Article

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332

By:

Patel, Maya;
Isaacs, Charles J.;
Seyer, Lauren;
Brigatti, Karlla;
Gelbard, Sarah;
Strawser, Cassandra;
Foerster, Debbie;
Shinnick, Julianna;
Schadt, Kimberly;
Yiu, Eppie M.;
Delatycki, Martin B.;
Perlman, Susan;
Wilmot, George R.;
Zesiewicz, Theresa;
Mathews, Katherine;
Gomez, Christopher M.;
Yoon, Grace;
Subramony, Sub H.;
Brocht, Alicia;
Farmer, Jennifer

Publication type:

Article

Cognition in Friedreich's ataxia: a behavioral and multimodal imaging study.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 8, p. 572, doi. 10.1002/acn3.315

By:

Dogan, Imis;
Tinnemann, Eugenie;
Romanzetti, Sandro;
Mirzazade, Shahram;
Costa, Ana S.;
Werner, Cornelius J.;
Heim, Stefan;
Fedosov, Kathrin;
Schulz, Stefanie;
Timmann, Dagmar;
Giordano, Ilaria A.;
Klockgether, Thomas;
Schulz, Jörg B.;
Reetz, Kathrin

Publication type:

Article

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 7, p. 523, doi. 10.1002/acn3.322

By:

Bhalla, Angela D.;
Khodadadi‐Jamayran, Alireza;
Li, Yanjie;
Lynch, David R.;
Napierala, Marek

Publication type:

Article

Frataxin levels in peripheral tissue in Friedreich ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225

By:

Lazaropoulos, Michael;
Dong, Yina;
Clark, Elisia;
Greeley, Nathaniel R.;
Seyer, Lauren A.;
Brigatti, Karlla W.;
Christie, Carlton;
Perlman, Susan L.;
Wilmot, George R.;
Gomez, Christoper M.;
Mathews, Katherine D.;
Yoon, Grace;
Zesiewicz, Theresa;
Hoyle, Chad;
Subramony, Sub H.;
Brocht, Alicia F.;
Farmer, Jennifer M.;
Wilson, Robert B.;
Deutsch, Eric C.;
Lynch, David R.

Publication type:

Article

Central venus cannulation during cardiac surgery as a possible new additional risk factor for late post‐operative atrial fibrillation insurgence.

Published in:

Journal of Cardiovascular Electrophysiology, 2024, v. 35, n. 12, p. 2296, doi. 10.1111/jce.16413

By:

Mastroiacovo, Giorgio;
Pirola, Sergio;
Sciarra, Luigi;
Rosati, Fabrizio;
Petrungaro, Mattia;
Nanci, Giuseppe;
Fileccia, Daniele;
Bonomi, Alice;
Tondo, Claudio;
Polvani, Gianluca

Publication type:

Article

Author's Reply to Peverill: "Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study".

Published in:

2020

By:

Pousset, Francoise;
Legrand, Lise;
Isnard, Richard;
Durr, Alexandra

Publication type:

Letter

Comment on: "Predictors of Left Ventricular Dysfunction in Friedreich Ataxia in a 16-Year Observational Study".

Published in:

2020

By:

Peverill, Roger E.

Publication type:

Letter

Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

Published in:

American Journal of Cardiovascular Drugs, 2020, v. 20, n. 2, p. 209, doi. 10.1007/s40256-019-00375-z

By:

Legrand, Lise;
Diallo, Abdourahmane;
Monin, Marie-Lorraine;
Ewenczyk, Claire;
Charles, Perrine;
Isnard, Richard;
Vicaut, Eric;
Montalescot, Gilles;
Durr, Alexandra;
Pousset, Francoise

Publication type:

Article

Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023, v. 24, n. 3/4, p. 347, doi. 10.1080/21678421.2022.2164204

By:

Dulski, JarosŁaw;
Strongosky, Audrey J.;
Al-Shaikh, Rana Hanna;
Wszolek, Zbigniew K.

Publication type:

Article

ALSUntangled No. 47: RT001.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 3/4, p. 294, doi. 10.1080/21678421.2018.1549531

By:

Bedlack, Richard

Publication type:

Article

Protoporphyrin IX Binds to Iron(II)-Loaded and to Zinc-Loaded Human Frataxin.

Published in:

Life (2075-1729), 2023, v. 13, n. 1, p. 222, doi. 10.3390/life13010222

By:

Bernardo-Seisdedos, Ganeko;
Schedlbauer, Andreas;
Pereira-Ortuzar, Tania;
Mato, José M.;
Millet, Oscar

Publication type:

Article