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

The Role of MRI in Prognostic Stratification of Cardiomyopathies

Grigoratos, C., Todiere, G., Barison, A., & Aquaro, G. D. (2020) · Current Cardiology Reports · doi:10.1007/s11886-020-01311-3 · Cited by 7

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

Bhowmik, A. D., Rangaswamaiah, S., Srinivas, G., & Dalal, A. B. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.12.010 · Cited by 7

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

Takazaki, K. A. G., de Rezende, T. J. R., Martínez, A., González‐Salazar, C., Nucci, A., Lopes‐Cendes, Í., & França, M. C. (2018) · Clinical Neurophysiology · doi:10.1016/j.clinph.2018.08.017 · Cited by 7

Friedreich's Ataxia Associated With Mitochondrial Myopathy: Clinicopathologic Report

Gallagher, C. L., Waclawik, A. J., Beinlich, B. R., Harding, C. O., Pauli, R. M., Poirer, J., Pandolfo, M., & Salamat, M. S. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700612 · Cited by 7

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

Santarelli, R., Cama, E., Pegoraro, E., & Scimemi, P. (2015) · Neurodegenerative Diseases · doi:10.1159/000375307 · Cited by 7

Revisiting Friedreich’s Ataxia: Phenotypic and Imaging Characteristics

Mahale, R. R., Purushottam, M., Singh, R., Yelamanchi, R., Kamble, N. L., Holla, V. V., Pal, P. K., Jain, S., & Yadav, R. (2024) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_1001_23 · Cited by 6

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression

Mozafari, N., Milagres, S., Umek, T., Rocha, C. S. J., Vargiu, C. M., Freyberger, F., Saher, O., Напиерала, М., Napierala, J. S., Blomberg, P., et al. (2025) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2025.102541 · Cited by 8

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

Perna, B. A., Tamarit, J., Cabiscol, E., Delaspre, F., Miguela, A., Huertas‐Pons, J. M., Quiroga‐Varela, A., Merchan-Ruiz, M., Domínguez, D. L., Torrentà, L. R., et al. (2024) · Movement Disorders · doi:10.1002/mds.29808 · Cited by 6

Friedreich Ataxia

Pandolfo, M. (2025) · Neurology Genetics · doi:10.1212/nxg.0000000000200236 · Cited by 6

An overview of early-onset cerebellar ataxia: a practical guideline

Hosseinpour, S., Bemanalizadeh, M., Mohammadi, P., Ashrafi, M. R., & Heidari, M. (2024) · Acta Neurologica Belgica · doi:10.1007/s13760-024-02595-w · Cited by 6

Atypical Presentation for Friedreich Ataxia in a Child

Caron, E., Burns, D. K., Castro, D., & Iannaccone, S. T. (2015) · Journal of Clinical Neuromuscular Disease · doi:10.1097/cnd.0000000000000086 · Cited by 6

Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia—A Case Series

Coskun, K. O., Popov, A., Schmitto, J. D., Coskun, S. T., Brandes, I. F., Zenker, D., Melnychenko, I., Schöndube, F. A., & Ruschewski, W. (2010) · Artificial Organs · doi:10.1111/j.1525-1594.2010.01140.x · Cited by 6

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle

Filali, M., Lalonde, R., Gérard, C., Coulombe, Z., & Tremblay, J. P. (2015) · Brain Research · doi:10.1016/j.brainres.2015.03.001 · Cited by 6

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

İncecik, F., Herguner, O. M., & Mungan, N. Ö. (2020) · Journal of Pediatric Neurosciences · doi:10.4103/jpn.jpn_145_18 · Cited by 6

General Management of Cerebellar Disorders: An Overview

Ilg, W., & Timmann, D. (2012) · Springer eBooks · doi:10.1007/978-94-007-1333-8_105 · Cited by 6

Neurologic Diseases

Scott, B. K., & Baranov, D. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-2787-6.00008-5 · Cited by 6

Movement Disorders and Inherited Metabolic Disorders

(2020) · Cambridge University Press eBooks · doi:10.1017/9781108556767 · Cited by 6

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes

Kellett, M., Fletcher, N. A., Wood, N. W., & Enevoldson, T. P. (1997) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.63.6.780 · Cited by 6

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation

Verma, R. K., & Gupta, M. (2012) · BMJ Case Reports · doi:10.1136/bcr-2012-007496 · Cited by 6

Coexistence of tuberous sclerosis and Friedreich ataxia

Walker, M., Samii, A., & Bird, T. D. (2004) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2004.02.009 · Cited by 6

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.

Heidari, M., Khatami, M., & Pourakrami, J. (2014) · Europe PMC (PubMed Central) · Cited by 6

Molecular basis of virulence Commentary

Mitchell, T. J., & Finn, A. (1998) · Archives of Disease in Childhood · doi:10.1136/adc.78.3.197 · Cited by 6

Evolution and Instability of the GAA Triplet-Repeat Sequence in Friedreich's Ataxia

Biase, I. D., Rasmussen, A., & Bidichandani, S. I. (2006) · Elsevier eBooks · doi:10.1016/b978-012369462-1/50020-x · Cited by 6

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia

Devore, M. C., Lam, C. C., Wiley, G. B., Park, C. C., Lynch, D. R., & Bidichandani, S. I. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf190 · Cited by 5

A Child With Friedreich's Ataxia and Epilepsy

Golomb, M. R., Illner, A., Christensen, C. K., & Walsh, L. E. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200031201 · Cited by 5

GAA REPEAT POLYMORPHISM IN TURKISH FRIEDREICH'S ATAXIA PATIENTS

Yilmaz, M., Koç, A. F., Kasap, H., Güzel, A. İ., Sarıca, Y., & Süleymanova, D. (2006) · International Journal of Neuroscience · doi:10.1080/00207450600592099 · Cited by 5

Pathology of Intercalated Discs in Friedreich Cardiomyopathy

Ramirez, R. L., Becker, A. B., Mazurkiewicz, J. E., Feustel, P. J., Gelman, B. B., & Koeppen, A. H. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.06.1355 · Cited by 5

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

Yau, W. Y., Raposo, M., Bettencourt, C., Labrum, R. W., Vasconcelos, J., Parkinson, M. H., Giunti, P., Wood, N. W., Lima, M. C. F., & Houlden, H. (2020) · Brain · doi:10.1093/brain/awaa043 · Cited by 5

Atrophies (dégénérescences) cérébelleuses tardives

Meissner, W. G., Tison, F., & Goizet, C. (2013) · Encyclopédie médico-chirurgicale. Neurologie · doi:10.1016/s0246-0378(12)51546-0 · Cited by 5

Repeat expansion disorders

Srinivasan, S. R., de Gusmão, C. M., Korecka, J. A., & Khurana, V. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00048-4 · Cited by 6

Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studies

dos Santos, C. M., Malheiro, S. F., Correia, M. A., & Damásio, J. (2023) · Cells · doi:10.3390/cells12071037 · Cited by 6

Kinematic body sensor networks and behaviourmetrics for objective efficacy measurements in neurodegenerative disease drug trials

Gavriel, C., Thomik, A. A. C., Lourencco, P. R., Nageshwaran, S., Athanasopoulos, S., Sylaidi, A., Festenstein, R., & Faisal, A. A. (2015) · Wearable and Implantable Body Sensor Networks · doi:10.1109/bsn.2015.7299426 · Cited by 5

DNA Replication, Repair, and Mutagenesis

Bhagavan, N. V., & Ha, C. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-095461-2.00022-9 · Cited by 5

Pseudodominant Friedreich's ataxia with phenotypic heterogeneity

Πάνας, Μ., Kalfakis, N., & Vassilopoulos, D. (2007) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2007.00734.x · Cited by 5

Friedreich ataxia today—preparing for the final battle

Michele, G. D., & Filla, A. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.33 · Cited by 5

Atrophies (dégénérescences) cérébelleuses tardives

Goizet, C., Tison, F., & Ballan, G. (2004) · Encyclopédie médico-chirurgicale. Neurologie · doi:10.1016/s0246-0378(02)00101-x · Cited by 5

The Hereditary Ataxias

Opal, P., & Zoghbi, H. Y. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00125-7 · Cited by 5

Approach to the Differential Diagnosis of Cerebellar Ataxias

Palau, F., & Espinós, C. (2012) · Springer eBooks · doi:10.1007/978-94-007-1333-8_81 · Cited by 5

[Clinico-urodynamic correlation in the hereditary ataxias].

Rodríguez, J. M. D., Casado, J. S., del Busto, E. F., Durbán, M. M., Pelillo, A. M., Delgado, B. M., Moreno, M. A., & Andrés, P. P. (2003) · PubMed · Cited by 5

Neurologic Diseases

Baranov, D., Kelton, T., McClung, H. M., Scarfo, K. A., & Hecker, J. G. (2006) · Elsevier eBooks · doi:10.1016/b978-141602212-1.50011-1 · Cited by 5

Clinically meaningful metrics of speech in neurodegenerative disease: Quantification of speech intelligibility and naturalness in ataxiaPreprint

Vogel, A. P., Maruff, P. T., Reece, H., Carter, H., Tai, G., Schultz, B. G., Corben, L. A., Delatycki, M. B., & Tsanas, A. (2023) · medRxiv · doi:10.1101/2023.03.28.23287878 · Cited by 5

Friedreich Ataxia

Subramony, S. H., & Lynch, D. R. (2025) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2025.10.020 · Cited by 4

Tandem repeats in human brain evolution and disease susceptibility

Lee, H., & An, J. (2026) · Molecules and Cells · doi:10.1016/j.mocell.2026.100363 · Cited by 4

Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach

Meira, A. T., Vale, T. C., da Costa, S. C. G., Gauvreau, C., Piccinin, C. C., Teive, H. A. G., França, M. C., Dupré, N., Barsottini, O. G., & Pedroso, J. L. (2025) · The Cerebellum · doi:10.1007/s12311-025-01908-w · Cited by 5

Skeletal Muscle Involvement in Friedreich Ataxia

Indelicato, E., Wanschitz, J., Löscher, W. N., & Boesch, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25189915 · Cited by 5

Frataxin is essential for zebrafish embryogenesis and pronephros formation

Ercanbrack, W. S., Dungan, A., Gaul, E., Ramirez, M., DelVecchio, A. J., Grass, C., & Wingert, R. A. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1496244 · Cited by 4

Human Pluripotent Stem Cells Modeling Neurodegenerative Diseases

Nat, R., Eigentler, A., & Dechant, G. (2013) · InTech eBooks · doi:10.5772/55772 · Cited by 3

Amyotrophie de type Charcot-Marie-Tooth associée à une ataxie cérébelleuse autosomique récessive révélatrice d’une mutation du gène de l’aprataxine

Ochsner, F., Ber, I. L., Saïd, G., Moreira, M.-C., Michel, P., Koenig, M., Dürr, A., Brice, A., & Küntzer, T. (2005) · Revue Neurologique · doi:10.1016/s0035-3787(05)85041-6 · Cited by 4

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich’s ataxia

Anderson, H. N., Burkhart, H. M., & Johnson, J. N. (2015) · Cardiology in the Young · doi:10.1017/s104795111500013x · Cited by 4

Phenotypic Analysis, Magnetic Resonance Imaging Findings, and Review of the Literature

Bhidayasiri, R., Perlman, S., & Geschwind, D. H. (2016) · Cited by 4

GENETICS OF INHERITED ATAXIAS

Subramony, S. H. (2005) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000293702.31088.0d · Cited by 4

Disorders of the Cerebellum, Including the Degenerative Ataxias

Subramony, S. H. (2008) · Elsevier eBooks · doi:10.1016/b978-0-7506-7525-3.50114-x · Cited by 4

Intraepidermal Nerve Fiber Density in Friedreich’s Ataxia

Indelicato, E., Nachbauer, W., Eigentler, A., Rudzki, D., Wanschitz, J., & Boesch, S. (2018) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nly100 · Cited by 4

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

Damásio, J., Sardoeira, A., Araújo, M., de Carvalho, I. A. M., Sequeiros, J., & Barros, J. (2021) · Cerebellum & Ataxias · doi:10.1186/s40673-021-00140-6 · Cited by 4

Hereditary ataxias

Klockgether, T., & Abele, M. (2004) · Handbook of clinical neurophysiology · doi:10.1016/s1567-4231(04)04038-9 · Cited by 4

Insights into the promising prospect of medicinal chemistry studies against neurodegenerative disorders

Rahman, M. M., Islam, M. R., Tumpa, M. A. A., Shohag, S., shuvo, S. K., Ferdous, J., Kajol, S. A., Aljohani, A. S. M., Abdulmonem, W. A., Rauf, A., et al. (2023) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2023.110375 · Cited by 4

Mutability of druggable kinases and pro-inflammatory cytokines by their proximity to telomeres and A+T content

McKnight, I., Raines, R., White, H., Nosoudi, N., Lee, C., Lee, P. H. U., & Shim, J. W. (2023) · PLoS ONE · doi:10.1371/journal.pone.0283470 · Cited by 4

Rehabilitation of specific conditions

Iansek, R., & Morris, M. E. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139012942.013 · Cited by 4

Exploring Liver Mitochondrial Function by 13C-Stable Isotope Breath Tests: Implications in Clinical Biochemistry

Molina‐Molina, E., Shanmugam, H., Palo, D. D., Grattagliano, I., & Portincasa, P. (2021) · Methods in molecular biology · doi:10.1007/978-1-0716-1433-4_11 · Cited by 5

Friedreich's Ataxia and Related DNA Loss-of-Function Disorders

Pandolfo, M., & Depondt, C. (2007) · Elsevier eBooks · doi:10.1016/b978-012369509-3.50020-2 · Cited by 4

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Pedroso, J. L., Braga‐Neto, P., Ricarte, I. F., Albuquerque, M. V. C., & Barsottini, O. G. P. (2013) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20130036 · Cited by 4

Phosphorus-31 Two-Dimensional Chemical Shift Imaging in the Myocardium of Patients with Late Onset of Friedreich Ataxia

Wolf, C., Boesch, S., Metzler, B., Weirich‐Schwaiger, H., Trieb, T., & Schocke, M. F. H. (2007) · Molecular Imaging and Biology · doi:10.1007/s11307-007-0119-y · Cited by 4

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Schwartz, I. V. D., Jardim, L. B., Puga, A. C., Cocozza, S., Leistner‐Segal, S., & Lima, L. C. (1999) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x1999000100001 · Cited by 4

Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada

Dupré, N., Chrestian, N., Thiffault, I., Brais, B., Rouleau, G. A., & Bouchard, J. P. (2008) · Revue Neurologique · doi:10.1016/j.neurol.2007.08.006 · Cited by 4

Quetiapine Treatment for Psychosis in Friedreich's Ataxia

Oruç, S., Gulseren, G., Küsbeci, Ö. Y., Yaman, M., & Geçici, Ö. (2012) · Klinik Psikofarmakoloji Bülteni-Bulletin of Clinical Psychopharmacology · doi:10.5455/bcp.20120729093746 · Cited by 4

Friedreich's ataxia cardiomyopathy: case based discussion and management issues.

Hanley, A., Corrigan, R., Mohammad, S., & MacMahon, B. (2010) · PubMed · Cited by 4

[Production and application of polyclonal antibody against mouse frataxin].

Hao, S., Xu, F., & Li, K. (2013) · PubMed · Cited by 4

Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene.

Entezam, M., Amirfiroozi, A., Togha, M., & Keramatipour, M. (2017) · PubMed Central · Cited by 4

Ataxias

Klockgether, T. (2007) · Elsevier eBooks · doi:10.1016/b978-141603618-0.10035-9 · Cited by 4

General Management of Cerebellar Disorders: An Overview

Timmann, D. (2012) · Cited by 4

Genetic Abnormalities in Friedreich's Ataxia

Filla, A., Michele, G. D., & Cocozza, S. (1997) · New England Journal of Medicine · doi:10.1056/nejm199704033361412 · Cited by 4

Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios

Available, N. A. N. (2000) · Diabetologia · doi:10.1007/s001250050058 · Cited by 4

Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia

Cilenti, N., Tamaroff, J. G., Capiola, C. J., Faig, W. G., McBride, M. G., Paridon, S. M., O’Malley, S., Edelson, J. B., Lynch, D. R., McCormack, S. E., et al. (2024) · Muscle & Nerve · doi:10.1002/mus.28085 · Cited by 3

Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study

Dupré, M., Hermann, R., Vidoni, L., Quadrio, I., Latour, P., Subtil, F., & Tilikete, C. (2025) · Journal of Neurology · doi:10.1007/s00415-025-13150-9 · Cited by 4

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

Grobe‐Einsler, M., Borel, S., Buchholz, M., Sayah, S., Hilab, R., Pierron, L., Iskandar, A., Humphries, B., Ewenczyk, C., Heinzmann, A., et al. (2025) · The Lancet Regional Health - Europe · doi:10.1016/j.lanepe.2025.101552 · Cited by 3

Genetics and Genomics of Pediatric Neurological Disorders: An Overview of Current Insights and Future Directions

Trabacca, A., Rinaldis, M. D., Oliva, M. C., Notaristefano, I., Gallo, I., Ferrante, C., & Fanizza, I. (2026) · Genes · doi:10.3390/genes17030275 · Cited by 3

Neurodegenerative diseases linked to trinucleotide repeats

Duyckaerts, C. J., Joyon, N., & Dürr, A. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107588660.011 · Cited by 3

Friedreich Ataxia

Pandolfo, M. (2007) · Springer eBooks · doi:10.1007/3-540-33336-3_4 · Cited by 3

Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

Malaquias, M. J., Oliveira, J., Santos, M., Brandão, A. F., Sardoeira, A., Sequeiros, J., Barros, J., & Damásio, J. (2023) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13694 · Cited by 3

Pre-op considerations in neuromuscular scoliosis deformity surgery: proceedings of the half day course at the 58th annual meeting of the Scoliosis Research Society

Welborn, M. C., Redding, G. J., Evers, P. D., Nicol, L. E., Bauer, D. F., Iyer, R. R., Poon, S. C., & Hwang, S. W.-H. (2024) · Spine Deformity · doi:10.1007/s43390-024-00865-4 · Cited by 3

Friedreich ataxia

Pandolfo, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00041-8 · Cited by 3

Alpha–lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia

Talaverón-Rey, M., Reche-López, D., Povea-Cabello, S., Álvarez-Córdoba, M., Gómez-Fernández, D., Romero-González, A., Cilleros-Holgado, P., Romero-Domínguez, J. M., López-Cabrera, A., Piñero-Pérez, R., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03990-z · Cited by 5

Herzbeteiligung bei Friedreich-Ataxie

Weidemann, F., Scholz, F. R., Florescu, C., Liu, D., Hu, K., Herrmann, S., Ertl, G., & Störk, S. (2014) · Herz · doi:10.1007/s00059-014-4097-y · Cited by 3

Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia

Salehi, M. H., Houshmand, M., Aryani, O., Kamalıdehghan, B., & Khalili, E. (1996) · Europe PMC (PubMed Central) · doi:10.6091/ibj.1235.2013 · Cited by 3

Imaging cardiac sarcoidosis and infiltrative diseases: diagnosis and therapeutic response

Elwazir, M. Y., Bois, J. P., AbouEzzeddine, O. F., & Chareonthaitawee, P. (2020) · The Quarterly Journal of Nuclear Medicine and Molecular Imaging · doi:10.23736/s1824-4785.20.03235-5 · Cited by 3

Source of medical information and behavioral seeking patterns in patients affected with Friedreich’s ataxia and their caregivers: a survey study

Miele, G., Lavorgna, L., Mercanti, S. F. D., Iudicello, M., Abbadessa, G., Matta, M., Bonavita, S., & Clerico, M. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05738-6 · Cited by 3

General Management of Cerebellar Disorders: An Overview

Ilg, W., & Timmann, D. (2021) · Springer eBooks · doi:10.1007/978-3-030-23810-0_105 · Cited by 3

Neurodegenerative Disorders

D’Incerti, L., Farina, L., & Tortori‐Donati, P. (2005) · Springer eBooks · doi:10.1007/3-540-26398-5_14 · Cited by 3

Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle

Psaras, Y., & Toepfer, C. N. (2023) · Experimental Physiology · doi:10.1113/ep090436 · Cited by 3

Two-step evolution of HIV-1 budding system leading to pandemic in the human population

Konno, Y., Uriu, K., Chikata, T., Takada, T., Kurita, J.-I., Ueda, M. T., Islam, S., Tan, B. J. Y., Ito, J., Aso, H., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.113697 · Cited by 4

Microfluidic formulation of diazoxide-loaded solid lipid nanoparticles as a Novel approach for Friedreich's ataxia treatment

Arduino, I., Santoro, A., Santis, S. D., Iacobazzi, R. M., Lopedota, A. A., Paradies, E., Merla, G., Virmouni, S. A., Palmieri, L., Marobbio, C. M. T., et al. (2024) · Journal of Drug Delivery Science and Technology · doi:10.1016/j.jddst.2024.105837 · Cited by 3

Rehabilitation of Friedreich ataxia

Milne, S., Campagna, E., Delatycki, M. B., & Corben, L. A. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139012942.018 · Cited by 3

Eye Movement Disorders

Gold, D. R. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-34044-1.00016-x · Cited by 3

Design and Testing of Sensors for Text Entry and Mouse Control for Individuals with Neuromuscular Diseases

Abrams, A. M. H., Weber, C. F., & Beckerle, P. (2018) · International ACM SIGACCESS Conference on Computers and Accessibility (ASSETS) · doi:10.1145/3234695.3241012 · Cited by 3

Genetics and Differential Diagnosis of Cerebellar Ataxias

Palau, F., & Arpa, J. (2023) · Springer eBooks · doi:10.1007/978-3-031-15070-8_79 · Cited by 3

Gravesʼ disease in a patient with Friedreichʼs ataxia and diabetes mellitus

Schweiger, B. M., KLINGENSMITH, G. J., & Wadwa, R. P. (2010) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32833a4511 · Cited by 3

Miscellaneous skeletal and connective tissue disorders in pregnancy

Grange, C. (2008) · Cambridge University Press eBooks · doi:10.1017/cbo9780511544552.009 · Cited by 3

Neue Erkenntnisse zur Molekulargenetik und Pathophysiologie der hereditären Ataxien

Bürk, K., Klockgether, T., & DICHGANS, J. (1999) · Der Nervenarzt · doi:10.1007/s001150050470 · Cited by 3

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Sierra, M., Infante, J., & Berciano, J. (2012) · The Cerebellum · doi:10.1007/s12311-012-0434-y · Cited by 3

Friedreich's ataxia: the European consortium

Lynch, D. R., & Perlman, S. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70327-8 · Cited by 3

Sequence variation in GAA repeat expansions may cause differential penotype display in Friedreich's ataxia

McDaniel, D. O., Keats, B. J. B., Vedanarayanan, V., & Subramony, S. H. (2001) · Movement Disorders · doi:10.1002/mds.1210 · Cited by 39

Friedreich's ataxia. Revision of the phenotype according to molecular genetics

Schöls, L. J. (1997) · Brain · doi:10.1093/brain/120.12.2131 · Cited by 173

Friedreich’s Ataxia: Phenotype and Genotype in Eleven Patients

Vargas, E., Villegas, V. E., Pedraza, O. L., Durán, C., & Prieto, J. C. (2006) · DOAJ (DOAJ: Directory of Open Access Journals)

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

Bradley, J. F., Collins, D. L., Schimke, R. N., Parrott, H. N., & Rothberg, P. G. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991119)87:2 · Cited by 28

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

Lamont, P. J. (1997) · Brain · doi:10.1093/brain/120.4.673 · Cited by 83