Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786

Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

Harding, A. E. (1981) · Brain · doi:10.1093/brain/104.3.589 · Cited by 929

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Trottier, Y., Devys, D., Imbert, G., Saudou, F., Gourfinkel‐An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, É. C., & Mandel, J. (1995) · Nature Genetics · doi:10.1038/ng0595-104 · Cited by 452

TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE

Ashley, C. T., & Warren, S. T. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.003415 · Cited by 400

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

Chamberlain, S., Shaw, J., Rowland, A., Wallis, J., South, S., Nakamura, Y., von Gabain, A., Farrall, M., & Williamson, R. (1988) · Nature · doi:10.1038/334248a0 · Cited by 317

When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases

Ross, C. A. (1995) · Neuron · doi:10.1016/0896-6273(95)90138-8 · Cited by 260

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

Hamida, C. B., Doerflinger, N., Belal, S., Linder, C. Y., Reutenauer, L., Dib, C., Gyapay, G., Alain Vignal, A., Paslier, D. L., Cohen, D., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-195 · Cited by 211

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Michele, G. D., Filla, A., Cavalcanti, F., Maio, L. D., Pianese, L., Castaldo, I., Calabrese, O., Monticelli, A., Varrone, S., & Campanella, G. (1994) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.57.8.977 · Cited by 111

A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol

Georgiou‐Karistianis, N., Corben, L. A., Reetz, K., Adanyeguh, I. M., Corti, M., Deelchand, D. K., Delatycki, M. B., Dogan, I., Evans, R., Farmer, J. M., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0269649 · Cited by 22

Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring

Stroh, M. A., Swerdlow, R. H., & Zhu, H. (2013) · Biochemical Pharmacology · doi:10.1016/j.bcp.2013.11.022 · Cited by 20

Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: Therapeutic options

Bencsik, P., Gömöri, K., Szabados, T., Sántha, P., Helyes, Z., Jancsó, G., Ferdinándy, P., & Görbe, A. (2020) · British Journal of Pharmacology · doi:10.1111/bph.15021 · Cited by 20

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene

Klopstock, T., Chahrokh-Zadeh, S., Holinski‐Feder, E., Meindl, A., Gasser, T., Pongratz, D. E., & Müller‐Felber, W. (1999) · Acta Neuropathologica · doi:10.1007/s004010050966 · Cited by 20

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

Hellenbroich, Y., SCHWINGER, E., & Zühlke, C. (2001) · Acta Neurologica Scandinavica · doi:10.1034/j.1600-0404.2001.103003188.x · Cited by 20

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia

Hammans, S. R., & Kennedy, C. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.64.3.368 · Cited by 20

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

Adanyeguh, I. M., Joers, J. M., Deelchand, D. K., Hutter, D., Eberly, L. E., Guo, B., Iltis, I., Bushara, K. O., Henry, P., & Lenglet, C. (2023) · Brain Communications · doi:10.1093/braincomms/fcad196 · Cited by 18

Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence

Pollard, L., Bourn, R. L., & Bidichandani, S. I. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1066 · Cited by 19

Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia

Clay, A., Obrochta, K. M., Soon, R. K., Russell, C. B., & Lynch, D. R. (2020) · Journal of Neurology · doi:10.1007/s00415-020-09868-3 · Cited by 19

Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial

Arpa, J., Sanz‐Gallego, I., Garrido, F. J. R. D. R., Melcón, F. D., Prefasi, D., Oliva-Navarro, J., Moreno-Yangüela, M., & Pascual, S. I. P. (2013) · The Cerebellum · doi:10.1007/s12311-013-0482-y · Cited by 19

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

Giraudet, F., Charles, P., Mom, T., Boespflug‐Tanguy, O., Dürr, A., Deltenre, P., & Avan, P. (2018) · Clinical Neurophysiology · doi:10.1016/j.clinph.2018.03.005 · Cited by 19

Some Observations upon Biochemical Causes of Ataxia and a New Disease Entity Ubiquinone, CoQ10 Deficiency

Land, J. M., Heales, S., Duncan, A. J., & Hargreaves, I. P. (2006) · Neurochemical Research · doi:10.1007/s11064-006-9222-8 · Cited by 19

Longitudinal Study of Cognitive Functioning in Friedreich’s Ataxia

Hernández-Torres, A., Montón, F., Medler, S. H., de Nóbrega, É., & Nieto, A. (2020) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617720000958 · Cited by 18

Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response

Cotticelli, M. G., Xia, S. J., Truitt, R., Doliba, N. M., Rozo, A. V., Tobias, J. W., Lee, T., Chen, J., Napierala, J. S., Напиерала, М., et al. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049497 · Cited by 18

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

Guernsey, D. L., Dubé, M., Jiang, H., Asselin, G., Blowers, S., Evans, S., Ferguson, M., Macgillivray, C., Matsuoka, M., Nightingale, M., et al. (2009) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.09.034 · Cited by 18

North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion

Singh, I., Faruq, M., Mukherjee, O., Jain, S., Pal, P. K., Srivastav, M. V. P., Behari, M., Srivastava, A. K., & Mukerji, M. (2010) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2010.00569.x · Cited by 18

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

Deutsch, E. C., Oglesbee, D., Greeley, N. R., & Lynch, D. R. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-306788 · Cited by 18

Emerging therapeutics for the treatment of Friedreich’s ataxia

Indelicato, E., & Bösch, S. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2018.1409109 · Cited by 17

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

Melac, A. T., Mariotti, C., Filipović-Pierucci, A., Giunti, P., Arpa, J., Boesch, S., Klopstock, T., Hagen, J. M. V., Klockgether, T., Bürk, K., et al. (2017) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2017-316964 · Cited by 19

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy

Orssaud, C. (2018) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000000623 · Cited by 18

Ratiometric electrochemical biosensor based on Exo III-Assisted recycling amplification for the detection of CAG trinucleotide repeats

Liu, Y., Ge, Z., Chen, M., He, H., Zhang, X., & Wang, S. (2019) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2019.111537 · Cited by 18

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Vural, A., Şimşir, G., Tekgül, Ş., Koçoğlu, C., Akçimen, F., Kartal, E., Şen, N.-E., Lahut, S., Ömür, Ö., Saner, N., et al. (2021) · Movement Disorders · doi:10.1002/mds.28518 · Cited by 18

The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients

Doni, D., Rigoni, G., Palumbo, E., Baschiera, E., Peruzzo, R., Rosa, E. D., Caicci, F., Passerini, L., Bettio, D., Russo, A., et al. (2021) · The FASEB Journal · doi:10.1096/fj.202000524rr · Cited by 19

Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies

González‐Cabo, P., Llorens, J. V., Palau, F., & Moltó, M. D. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-2813-6_17 · Cited by 19

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

Calmels, N., Seznec, H., Villa, P., Reutenauer, L., Hibert, M., Haiech, J., Rustin, P., Koenig, M., & Puccio, H. M. (2009) · BMC Neurology · doi:10.1186/1471-2377-9-46 · Cited by 18

Mitochondrial deafness mutations reviewed

Fischel‐Ghodsian, N. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)13:4 · Cited by 222

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia

Chutake, Y. K., Costello, W. N., Lam, C. C., Parikh, A. C., Hughes, T. T., Michalopulos, M. G., Pook, M. A., & Bidichandani, S. I. (2015) · PLoS ONE · doi:10.1371/journal.pone.0138437 · Cited by 19

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

McCabe, D. J. H., Wood, N. W., Ryan, F., Hanna, M. G., Connolly, S., Moore, D. P., Redmond, J. M. T., Barton, D. E., & Murphy, R. P. (2002) · Archives of Neurology · doi:10.1001/archneur.59.2.296 · Cited by 18

Molecular genetics of the hereditary ataxias.

Pandolfo, M., & Montermini, L. (1998) · Advances in Genetics · doi:10.1016/s0065-2660(08)60141-8 · Cited by 14

Centres of excellence for the care of people with progressive ataxias

Greenfield, J., Treacy, C., & Giunti, P. (2006) · British Journal of Nursing · doi:10.12968/bjon.2006.15.17.21908 · Cited by 17

Centres of excellence for the care of people with progressive ataxias

Greenfield, J., Treacy, C., & Giunti, P. (2008) · British Journal of Neuroscience Nursing · doi:10.12968/bjnn.2008.4.11.31698 · Cited by 17

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Monda, E., Lioncino, M., Rubino, M., Passantino, S., Verrillo, F., Caiazza, M., Cirillo, A., Fusco, A., Fraia, F. D., Fimiani, F., et al. (2021) · Heart Failure Clinics · doi:10.1016/j.hfc.2021.07.001 · Cited by 17

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study

Legrand, L., Weinsaft, J. W., Pousset, F., Ewenczyk, C., Charles, P., Hatem, S. N., Heinzmann, A., Biet, M., Dürr, A., & Redheuil, A. B. (2021) · Archives of cardiovascular diseases · doi:10.1016/j.acvd.2021.10.010 · Cited by 17

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

Fichera, M., Castaldo, A., Mongelli, A., Marchini, G., Gellera, C., Nanetti, L., & Mariotti, C. (2022) · Neurological Sciences · doi:10.1007/s10072-022-06360-w · Cited by 18

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

Rummey, C., Harding, I. H., Delatycki, M. B., Tai, G., de Rezende, T. J. R., & Corben, L. A. (2022) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51686 · Cited by 24

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

Uppili, B., Sharma, P., Ahmad, I., Sahni, S., Vivekanand, A., Nagaraja, A. B., Srivastava, A. K., & Faruq, M. (2023) · Brain Communications · doi:10.1093/braincomms/fcad020 · Cited by 17

Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich’s ataxia mouse model

Turchi, R., Sciarretta, F., Ceci, V., Tiberi, M., Audano, M., Pedretti, S., Panebianco, C., Nesci, V., Pazienza, V., Ferri, A., et al. (2023) · iScience · doi:10.1016/j.isci.2023.107713 · Cited by 18

Disruption of Higher Order DNA Structures in Friedreich’s Ataxia (GAA)n Repeats by PNA or LNA Targeting

Bergquist, H., Rocha, C. S. J., Álvarez-Asencio, R., Nguyen, C.-H., Rutland, M. W., Smith, C. I. E., Good, L., Nielsen, P. E., & Zain, R. (2016) · PLoS ONE · doi:10.1371/journal.pone.0165788 · Cited by 17

The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population

Plehn, J. F., Hasbani, K., Ernst, I., Horton, K. D., Drinkard, B. E., & Prospero, N. A. D. (2017) · Journal of Cardiac Failure · doi:10.1016/j.cardfail.2017.09.012 · Cited by 17

Effect of diazoxide on Friedreich ataxia models

Santoro, A., Virmouni, S. A., Paradies, E., Coa, V. L. V., Al‐Mahdawi, S., Khoo, M., Porcelli, V., Vozza, A., Perrone, M. G., Denora, N., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy016 · Cited by 17

A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine

Russi, M., Martin, E., D’Autréaux, B., Tixier, L., Tricoire, H., & Monnier, V. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa170 · Cited by 17

Genetic and phenotypic variability of optic neuropathies

Neuhann, T., & Rautenstrauss, B. (2013) · Expert Review of Neurotherapeutics · doi:10.1586/ern.13.19 · Cited by 17

Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population

Rodríguez, M. G., Clark, R. M., Nath, S. K., Bhatti, S., Sharma, R., Alonso, E., Rasmussen, A., & Bidichandani, S. I. (2004) · Genomics · doi:10.1016/j.ygeno.2004.07.014 · Cited by 17

Origin and Instability of GAA Repeats: Insights from Alu Elements

Chauhan, C. R., Dash, D., Grover, D., Rajamani, J., & Mukerji, M. (2002) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2002.10506841 · Cited by 17

Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series

Simon, A., Meyblum, J., Roche, B., Vidal, C., Mazda, K., Husson, I., & Ilharreborde, B. (2019) · Spine Deformity · doi:10.1016/j.jspd.2019.02.005 · Cited by 16

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

Patel, M., McCormick, A., Tamaroff, J. G., Dunn, J., Mitchell, J. A., Lin, K. Y., Farmer, J., Rummey, C., Perlman, S. L., Delatycki, M. B., et al. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000638 · Cited by 16

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Seabury, J., Alexandrou, D., Dilek, N., Cohen, B., Heatwole, J. M., Larkindale, J., Lynch, D. R., Park, C. C., Rosero, S. J., Subramony, S. H., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201598 · Cited by 16

Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia

Naeije, G., Wens, V., Bourguignon, M., Goldman, S., Pandolfo, M., & Tiège, X. D. (2019) · Clinical Neurophysiology · doi:10.1016/j.clinph.2019.05.003 · Cited by 17

Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia

Villa, C., Legato, M., Umbach, A., Riganti, C., Jones, R., Martini, B., Boido, M., Medana, C., Facchinetti, I., Barni, D., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abe1633 · Cited by 17

Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications

Friedman, L. S., Paulsen, E. K., Schadt, K. A., Brigatti, K. W., Driscoll, D. A., Farmer, J. M., & Lynch, D. R. (2010) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2010.03.046 · Cited by 16

Effects of genetic severity on glucose homeostasis in Friedreich ataxia

Isaacs, C. J., Brigatti, K. W., Kucheruk, O., Ratcliffe, S. J., Sciascia, T., McCormack, S. E., Willi, S. M., & Lynch, D. R. (2016) · Muscle & Nerve · doi:10.1002/mus.25136 · Cited by 16

Pediatric Ataxia: Focus on Chronic Disorders

Lynch, D. R., McCormick, A., Schadt, K. A., & Kichula, E. A. (2018) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2018.01.001 · Cited by 16

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

Legrand, L., Diallo, A., Monin, M., Ewenczyk, C., Charles, P., Isnard, R., Vicaut, É., Montalescot, G., Dürr, A., & Pousset, F. (2019) · American Journal of Cardiovascular Drugs · doi:10.1007/s40256-019-00375-z · Cited by 16

Long-term voluntary running prevents the onset of symptomatic Friedreich’s ataxia in mice

Zhao, H., Lewellen, B. M., Wilson, R. J., Cui, D., Drake, J. C., Zhang, M., & Yan, Z. (2020) · Scientific Reports · doi:10.1038/s41598-020-62952-6 · Cited by 16

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Puglisi, R. (2022) · Biomedicines · doi:10.3390/biomedicines10020425 · Cited by 15

Triplex H-DNA Structure: The Long and Winding Road from the Discovery to Its Role in Human Disease

Hisey, J. A., Masnovo, C., & Mirkin, S. M. (2024) · NAR Molecular Medicine · doi:10.1093/narmme/ugae024 · Cited by 15

Identification of cardioprotective drugs by medium-scalein vivopharmacological screening on aDrosophilacardiac model of Friedreich's ataxia

Palandri, A., Martin, E., Russi, M., Rera, M., Tricoire, H., & Monnier, V. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.033811 · Cited by 15

Vestibular impact of Friedreich ataxia in early onset patients

Maudoux, A., Teissier, N., Francois, M., Abbeele, T. V. D., Alberti, C., Husson, I., & Vacher, S. R. W. (2020) · Cerebellum & Ataxias · doi:10.1186/s40673-020-00115-z · Cited by 16

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Rodden, L. N., Gilliam, K. M., Lam, C. C., Rojsajjakul, T., Mesaros, C., Dionisi, C., Pook, M. A., Pandolfo, M., Lynch, D. R., Blair, I. A., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-09002-5 · Cited by 16

Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective

Koutsis, G., Kladi, A., Karadima, G., Houlden, H., Wood, N. W., Christodoulou, K., & Πάνας, Μ. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.10.012 · Cited by 15

Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia

Castelnovo, G. (2000) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.69.5.693 · Cited by 15

Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

White, V., Leib, J. R., Farmer, J. M., & Biesecker, B. B. (2010) · Behavioral and Brain Functions · doi:10.1186/1744-9081-6-65 · Cited by 15

IGF-1 in Friedreich’s Ataxia – proof-of-concept trial

Sanz‐Gallego, I., Torres‐Alemán, I., & Arpa, J. (2014) · Cerebellum & Ataxias · doi:10.1186/2053-8871-1-10 · Cited by 15

Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders

Berciano, J., y García, A. G., & Infante, J. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52902-2.00051-5 · Cited by 15

Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia

Gramegna, L. L., Tonon, C., Manners, D. N., Pini, A., Rinaldi, R., Zanigni, S., Bianchini, C., Evangelisti, S., Fortuna, F., Carelli, V., et al. (2016) · The Cerebellum · doi:10.1007/s12311-016-0767-z · Cited by 15

Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features

Illarioshkin, S. N., Bagieva, G. K., Klyushnikov, S. A., Ovchinnikov, I. V., Markova, E. D., & Ivanova‐Smolenskaya, I. A. (2000) · European Journal of Neurology · doi:10.1046/j.1468-1331.2000.00113.x · Cited by 15

Clinical heterogeneity of recessive ataxia in the Mexican population

Rasmussen, A., Rodríguez, M. G., Alonso, E., & Bidichandani, S. I. (2006) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.090449 · Cited by 15

Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia

Greene, E., Handa, V., Kumari, D., & Usdin, K. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072839 · Cited by 15

Cardiomyopathy in Friedreich Ataxia

Jensen, M. K., & Bundgaard, H. (2012) · Circulation · doi:10.1161/circulationaha.112.095364 · Cited by 15

Heterologous mitochondrial targeting sequences can deliver functional proteins into mitochondria

Marcus, D., Lichtenstein, M., Cohen, N., Hadad, R., Erlich, T. H., Greif, H., & Lorberboum‐Galski, H. (2016) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2016.10.013 · Cited by 14

Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry

Pappa, A., Häusler, M., Veigel, A., Tzamouranis, K., Pfeifer, M., Schmidt, A., Bökamp, M., Haberland, H., Wagner, S., Brückel, J., et al. (2018) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2018.05.008 · Cited by 14

Cofilin dysregulation alters actin turnover in frataxin-deficient neurons

Muñoz-Lasso, D. C., Mollá, B., Calap-Quintana, P., García‐Giménez, J. L., Pallardó, F. V., Palau, F., & González‐Cabo, P. (2020) · Scientific Reports · doi:10.1038/s41598-020-62050-7 · Cited by 14

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich’s ataxia: A cardiac MRI study

Takazaki, K. A. G., Quinaglia, T., Venâncio, T., Martínez, A., Shah, R. V., Neilan, T. G., Jerosch‐Herold, M., Coelho‐Filho, O. R., & França, M. C. (2021) · PLoS ONE · doi:10.1371/journal.pone.0246633 · Cited by 14

The Cardioprotective Mechanism of Phenylaminoethyl Selenides (PAESe) Against Doxorubicin-Induced Cardiotoxicity Involves Frataxin

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