The autosomal recessive cerebellar ataxias.

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

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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

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The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D. A., Kaplan, M. I., Jaspers, N. G. J., Raams, A., Byrd, P. J., Petrini, J. H. J., & Taylor, A. M. R. (1999) · Cell · doi:10.1016/s0092-8674(00)81547-0 · Cited by 1,060

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

Schöls, L., Bauer, P., Schmidt, T., Schulte, T., & Riess, O. (2004) · Lancet Neurology · doi:10.1016/s1474-4422(04)00737-9 · Cited by 1,007

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

Harding, A. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 987

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

Swift, M., Morrell, D., Massey, R. B., & Chase, C. L. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112263252602 · Cited by 934

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

Dürr, A. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70183-6 · Cited by 658

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics · doi:10.1038/ng987 · Cited by 522

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Moreira, M.-C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T. J., Mendonça, P., Costa, M. M. R., Barros, J., Yanagisawa, T., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-189 · Cited by 434

hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges

Lukovic, D., Moreno‐Manzano, V., Rodríguez-Jiménez, F. J., Vilches, A., Syková, E., Jendelová, P., Stojković, M., & Erceg, S. (2016) · The Neuroscientist · doi:10.1177/1073858416672652 · Cited by 6

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

Campopiano, R., Ferese, R., Buttari, F., Femiano, C., Centonze, D., Fornai, F., Biagioni, F., Chiaravalloti, M. A., Magnani, M., Giardina, E., et al. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2019.01331 · Cited by 6

Movement Disorders and Inherited Metabolic Disorders

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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene

Shimazaki, H., Kobayashi, J., Sugaya, R., Nakano, I., & Fujimoto, S. (2020) · Journal of Integrative Neuroscience · doi:10.31083/j.jin.2020.01.1239 · Cited by 5

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

Paternoster, L., Soblet, J., Aeby, A., Tiège, X. D., Goldman, S., Yue, W. W., Coppens, S., Smits, G., Vilain, C. N., & Deconinck, N. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61805 · Cited by 5

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

Ikeda, A., Kumaki, T., Tsuyusaki, Y., Tsuji, M., Enomoto, Y., Fujita, A., Saitsu, H., Matsumoto, N., Kurosawa, K., & Goto, T. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1085228 · Cited by 5

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Mahdieh, N., Heidari, M., Rezaei, Z., Tavasoli, A. R., Hosseinpour, S., Rasulinejad, M., Dehnavi, A. Z., Akbari, M. G., Badv, R. S., Vafaei, E., et al. (2024) · Human Genomics · doi:10.1186/s40246-024-00598-5 · Cited by 5

The cerebellar histiocytosis

Franco, I. D. A., Aragão, M. D. M., Braga‐Neto, P., Avelino, M. A., Pedroso, J. L., Marussi, V. H. R., Freitas, L. F., Masruha, M. R., & Barsottini, O. G. P. (2018) · Neurology · doi:10.1212/wnl.0000000000006036 · Cited by 5

CRISPR–Cas Gene Editing for Neurological Disease

Simpson, B. P., & Davidson, B. L. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813997-4.00018-9 · Cited by 5

A Rare Phenotype of Inherited Cerebellar Ataxia

Raval, D. M., Rathod, V. M., Dobariya, R. K., Dave, M. P., & Patel, N. S. (2022) · Cureus · doi:10.7759/cureus.28831 · Cited by 5

Ataxia in Neurometabolic Disorders

Kaminiów, K., Ryguła, I., & Paprocka, J. (2022) · Metabolites · doi:10.3390/metabo13010047 · Cited by 5

Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

Kurt, S. G., Çevik, B., Aksoy, D., Sahbaz, E. I., Eken, A. G., & Başak, A. N. (2016) · Case Reports in Neurological Medicine · doi:10.1155/2016/4515938 · 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

Late-onset hereditary ataxias with dementia

Linares, A. J., & Fogel, B. L. (2023) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001170 · Cited by 5

Effects of cerebellar transcranial alternating current stimulation in cerebellar ataxia: study protocol for a randomised controlled trial

Liu, X., Lin, W. C., Zhang, L., Zhang, W., Cheng, X., Lian, Y.-H., Li, M.-C., Wang, S., Chen, X., & Gan, S. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1180454 · Cited by 4

Longitudinal Analysis of Natural History Progression of Rare and Ultra‐Rare Cerebellar Ataxias Using Item Response Theory

Hamdan, A., Hendrickx, N., Hooker, A. C., Chen, X., Comets, E., Traschütz, A., Schüle, R., ARCA Study Group, Mentré, F., Synofzik, M., et al. (2024) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.3466 · Cited by 4

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload

Li, H., Ma, Q., Xue, Y., Cai, L., Bao, L., Hong, L., Zeng, Y., Huang, S., Finnell, R. H., & Zeng, F. (2024) · Science China Life Sciences · doi:10.1007/s11427-023-2549-2 · Cited by 4

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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Parkinson, M. H., Bremner, F., & Giunti, P. (2014) · Advances in Clinical Neuroscience & Rehabilitation · doi:10.47795/dhmp3511 · Cited by 4

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Arslan, E. A., Göçmen, R., Oğuz, K. K., Konuşkan, G. D., Serdaroğlu, E., Topaloğlu, H., & Topçu, M. (2017) · Acta Neurologica Belgica · doi:10.1007/s13760-017-0786-7 · Cited by 4

Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España

Arias, M., Mir, P., Fernández‐Matarrubia, M., Arpa, J., García-Ramos, R., Blanco-Arias, P., Quintáns, B., & Sobrido, M. J. (2019) · Neurología · doi:10.1016/j.nrl.2019.01.004 · Cited by 4

Ataxia in Multiple Sclerosis: From Current Understanding to Therapy

El‐Mansoury, B., Laadraoui, J., Khiat, A. E., Hiba, O. E., Jayakumar, A. R., Ferssiwi, A., & Bitar, A. (2023) · IntechOpen eBooks · doi:10.5772/intechopen.112013 · Cited by 4

Ataxia Telangiectasia

Pietrucha, B. M. (2023) · IntechOpen eBooks · doi:10.5772/intechopen.112005 · Cited by 4

Overview of Ataxias in Children

Poretti, A., & Boltshauser, E. (2016) · Springer eBooks · doi:10.1007/978-3-319-24551-5_71 · Cited by 4

Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias

Kumari, R., Kumar, D., Brahmachari, S. K., Srivastava, A. K., Faruq, M., & Mukerji, M. (2018) · Journal of Genetics · doi:10.1007/s12041-018-0948-2 · Cited by 4

Comparison of Acoustic Measures in Discriminating Between Those With Friedreich's Ataxia and Neurologically Normal Peers

Luna-Webb, S. (2015) · Journal of International Crisis and Risk Communication Research · Cited by 4

Cerebellar Ataxia Caused by Central Nervous System Tuberculosis With Pulmonary Tuberculosis: A Case Report

Saishoji, Y., Mori, H., & Izumi, Y. (2023) · Cureus · doi:10.7759/cureus.33493 · Cited by 3

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens

Faßhauer, M., Dinges, S. S., Staudacher, O., Völler, M., Stittrich, A., von Bernuth, H., Wahn, V., & Krüger, R. (2024) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1386959 · Cited by 3

Friedreich ataxia

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

Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient

Castillo, J.-C., Díaz, S. C., Bustamante, M. L., Ferreira, M. G., Teive, H. A. G., & Miranda, M. (2021) · The Cerebellum · doi:10.1007/s12311-021-01250-x · Cited by 3

Retrocollis as the cardinal feature in a de novo ITRP1 variant

Zachou, A., Palaiologou, D., Kanavakis, E., & Anagnostou, E. (2022) · Brain and Development · doi:10.1016/j.braindev.2022.01.005 · Cited by 3

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

Gauhar, Z., Tejwani, L., Abdullah, U., Saeed, S., Shafique, S., Badshah, M., Choi, J., Dong, W., Nelson-Williams, C. J., Lifton, R. P., et al. (2022) · Cells · doi:10.3390/cells11193090 · Cited by 3

Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1

Paucar, M., Alonso, I. D. C. M. P., Eriksson, M., Beniaminov, S., Coutinho, P., & Svenningsson, P. (2014) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12112 · Cited by 3

Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype

McKenzie, E. D., Sharma, P., Parboosingh, J. S., & Suchowersky, O. (2014) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100016334 · 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

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

Anheim, M., Martin, J. V. T., & Kolb, S. (2020) · The Cerebellum · doi:10.1007/s12311-020-01102-0 · 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

Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction

Jordan, J. T., Samuel, G., Vernino, S. A., & Muppidi, S. (2012) · Archives of Neurology · doi:10.1001/archneurol.2012.2356 · Cited by 3

Hereditäre Ataxien

Synofzik, M., Schöls, L. J., & Riess, O. (2013) · Medizinische Genetik · doi:10.1007/s11825-013-0383-y · Cited by 3

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Pyle, A., Griffin, H. R., Keogh, M. J., Horváth, R., & Chinnery, P. F. (2015) · Brain · doi:10.1093/brain/awv088 · Cited by 3

A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient

Ateş, E. A., Türkyılmaz, A., Eltan, S. B., Barış, S., & Güney, A. İ. (2021) · Molecular Syndromology · doi:10.1159/000518629 · Cited by 2

Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia

Bagabir, H. A., Abdulkareem, A. A., Muthaffar, O. Y., Shirah, B. H., & Naseer, M. I. (2024) · Pakistan Journal of Medical Sciences · doi:10.12669/pjms.40.10.10474 · Cited by 2

Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives

Dupré, N., Salem, I. H., Beaudin, M., & Klein, C. J. (2022) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527321666220418114846 · Cited by 2

Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report

Razzaqi, F., Albastaki, A., & Sinan, I. (2025) · Hong Kong Physiotherapy Journal · doi:10.1142/s1013702525710015 · Cited by 2

Chronic childhood ataxia: the cause depends on how you look

Subramony, S. H. (2013) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12107 · Cited by 2

From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass

Mariani, L., Degos, B., Honnorat, J., Trouillas, P., Rabin, M., Koenig, M., & Anheim, M. (2013) · Journal of Neurology · doi:10.1007/s00415-013-6840-3 · Cited by 2

Autosomal Recessive Ataxias

Beaudin, M., & Dupré, N. (2016) · Springer eBooks · doi:10.1007/978-3-319-24551-5_73 · Cited by 2

Differential Diagnosis of Cerebellar Ataxias on the Basis of the Age at Onset

Palau, F., & Arpa, J. (2016) · Springer eBooks · doi:10.1007/978-3-319-24551-5_70 · Cited by 2

Neurological Disease

García‐Cazorla, À., Wolf, N. I., Mochel, F., & Hoffmann, G. F. (2016) · Springer eBooks · doi:10.1007/978-3-662-49410-3_27 · Cited by 2

Ataxia - Practice Essentials and Interventions

Ambrosi, P. B. (2023) · IntechOpen eBooks · doi:10.5772/intechopen.104147 · Cited by 2

Ataxia

Singer, H. S., Mink, J. W., Gilbert, D. L., & Jankovic, J. J. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-411573-6.00014-0 · Cited by 2

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

Saeidi, K., Saleh-Gohari, N., & Nejad, S. E. M. (2018) · Iranian journal of child neurology. · doi:10.22037/ijcn.v12i4.15397 · Cited by 2

Ataxia with Impaired DNA Repair in Adults: A Case Series and Review of the Literature

Нужный, Е. П., Klyushnikov, S. A., Abramycheva, N. Y., Fedotova, E. Y., Andreev, M. N., Vetchinova, A. S., & Illarioshkin, S. N. (2020) · Russian neurological Journal · doi:10.30629/2658-7947-2020-25-2-28-36 · Cited by 1

Next Generation Sequencing in Neurology and Psychiatry

Szymańska, K., Szczałuba, K., Kostera‐Pruszczyk, A., & Wolańczyk, T. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801739-5.00006-4 · Cited by 1

Advances in the understanding of hereditary ataxia – implications for future patients

Zeitlberger, A. M., Ging, H., Nethisinghe, S., & Giunti, P. (2018) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2018.1444477 · Cited by 1

A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism

Scaravilli, A., Tranfa, M., Pontillo, G., Brais, B., Michele, G. D., Piana, R. L., Saccà, F., Santorelli, F. M., Synofzik, M., Brunetti, A., et al. (2023) · The Cerebellum · doi:10.1007/s12311-023-01562-0 · Cited by 1

Ethnic and Epidemiological Peculiarities of Movement Disorders across the World

Moura, J., Balint, B., Cullinane, P. W., Alhashash, H., Magrinelli, F., Latorre, A., & Bhatia, K. P. (2025) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.70475 · Cited by 1

Functional and structural basis of a hypermorphic TRPC3 variant

Bell, B., Jaramillo-Granada, Á. M., Romero, L. O., Gutierrez, I. A., Mallampalli, V. K. P. S., Fan, G., Varma, S., Baker, M. L., Serysheva, I. I., Vásquez, V., et al. (2026) · Science Advances · doi:10.1126/sciadv.aec9284 · Cited by 1

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia‐Telangiectasia: A Systematic Review

Panvino, F., Paparella, R., Urciuolo, G., Galosi, S., Spagnoli, C., Leuzzi, V., & Pisani, F. (2026) · European Journal of Neurology · doi:10.1111/ene.70683 · Cited by 1

Differential Diagnosis of Abnormal Symptoms and Signs

Ettinger, A. B., & Weisbrot, D. M. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781139028899.003 · Cited by 1

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Pyle, A., Horváth, R., & Chinnery, P. F. (2012) · Archives of Neurology · doi:10.1001/2013.jamaneurol.389 · Cited by 1

[Chronic ataxia in childhood].

Torricelli, R. E. (2013) · PubMed · Cited by 1

Autosomal recessive spinocerebellar ataxias in Japan

Tanaka, F., Doi, H., & Kunii, M. (2016) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-000879 · Cited by 1

Síndromes atáxicos. Ataxias heredodegenerativas

Adarmes-Gómez, A. D. (2019) · Medicine - Programa de Formación Médica Continuada Acreditado · doi:10.1016/j.med.2019.03.004 · Cited by 1

Rett-Syndrom und Varianten

Hanefeld, F. A. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_253-1 · Cited by 1

Treating Hereditary Ataxias—Where Can We Help?

Agarwal, A., Garg, D., Faruq, M., Rajan, R., Goyal, V., & Srivastava, A. K. (2019) · Annals of the National Academy of Medical Sciences (India) · doi:10.1055/s-0039-1700942 · Cited by 1

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia

Karlsson, W. K., Højgaard, J. L. S., Vilhelmsen, A., Crone, C., Andersen, B., Law, I. G., Møller, L. B., Nielsen, T. T., Nielsen, E. N., Krag, T. O. B., et al. (2021) · The Cerebellum · doi:10.1007/s12311-021-01308-w · Cited by 1

Development of Physiological Activity in the Cerebellum

Jayabal, S., & Watt, A. J. (2019) · Springer eBooks · doi:10.1007/978-3-319-97911-3_111-2 · Cited by 1

Ataxia

Jankovic, J. J., Hallett, M., Okun, M. S., Comella, C., Fahn, S., & Goldman, J. G. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-31071-0.00020-2 · Cited by 1

Autosomal Recessive Ataxias

Beaudin, M., Salem, I. H., & Dupré, N. (2023) · Springer eBooks · doi:10.1007/978-3-031-15070-8_83 · Cited by 1

Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese

Dong, Y., Jia, M., Tan, S., Li, X., Song, Y., Wang, X., Wang, Z., & Wang, C. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63828 · Cited by 1

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family

Zhou, Q., Chen, M., & Tao, E. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1491649 · Cited by 1

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia

Milanović, B., Vijatov-Djuric, G., Djuretic, A., Kesić, J., Stojanovic, V. D., Jaric, M., & Ležakov, O. (2025) · Children · doi:10.3390/children12060672 · Cited by 1

Fresh from the designation pipeline: orphan drugs recently designated in the European Union (June – August 2013)

Antoniu, S. A. (2013) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2013.857597 · Cited by 1

Commentary for “Progressive ataxia associated with scarring skin lesions and vertical gaze palsy”

Bhatia, K. P. (2013) · Movement Disorders · doi:10.1002/mds.25466 · Cited by 1

Recessive Spinocerebellar Ataxia with Paroxysmal Cough Attacks: A Report of Five Cases

Velázquez‐Pérez, L., González-Piña, R., Rodríguez‐Labrada, R., Aguilera‐Rodríguez, R., Galicia-Polo, L., Vázquez‐Mojena, Y., Rubio, A. M. C., Trujillo-Bracamontes, M. R., Cerecedo-Zapata, C. M., Hernández‐Hernández, Ó., et al. (2013) · The Cerebellum · doi:10.1007/s12311-013-0526-3 · Cited by 1

Les centres maladies rares en neurologie ont-ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires ?

Tranchant, C. (2013) · Revue Neurologique · doi:10.1016/s0035-3787(13)70056-0 · Cited by 1

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

Laurencin, C., Anheim, M., Larrieu, L., Tilikete, C., Koenig, M., & Thobois, S. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7717-4 · Cited by 1

Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation

George, S. M., & Mathews, M. (2014) · Journal of Nepal Paediatric Society · doi:10.3126/jnps.v34i2.9694 · Cited by 1

Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

Cuitiva, E. A. G., Ridaura‐Sanz, C., Yamazaki‐Nakashimada, M. A., Leal‐Leal, C., & Zapata‐Tarrés, M. (2015) · Acta Pediátrica de México · doi:10.18233/apm36no6pp464-472 · Cited by 1

The Genetics of POI

Klenov, V. E., & Cooper, A. R. (2016) · Springer eBooks · doi:10.1007/978-3-319-22491-6_4 · Cited by 1

DNA Repair Defects

Porras, Ó. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405546-9.00007-8 · Cited by 1

Development of Physiological Activity in the Cerebellum

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Application of classical and next generation sequencing techniques to gene discovery and diagnostics in neurogenetic disorders

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