The autosomal recessive cerebellar ataxias.

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

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

Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., et al. (1995) · Science · doi:10.1126/science.7792600 · Cited by 2,785

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610173351601 · Cited by 1,071

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

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

Renaud, M., Guissart, C., Mallaret, M., Ferdinandusse, S., Cheillan, D., Drouot, N., Muller, J., Claustres, M., Tranchant, C., Anheim, M., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8167-3 · Cited by 28

Spastic ataxias

Bereznyakova, O., & Dupré, N. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00012-3 · Cited by 28

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

Synofzik, M., Harmuth, F., Stampfer, M., Hagen, J. M. V., Schöls, L. J., & Bauer, P. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7889-y · Cited by 27

Next-Generation Sequencing Technologies and Neurogenetic Diseases

Sun, H., Shen, X.-R., Fang, Z.-B., Jiang, Z., Wei, X., Wang, Z., & Yu, X. (2021) · Life · doi:10.3390/life11040361 · Cited by 29

Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders

Pastorczak, A. K., Attarbaschi, A., Bomken, S. N., Borkhardt, A., ten Bosch, J. V. D. W., Elitzur, S., Gennery, A. R., Hlaváčková, E. O., Kerekes, A., Křenová, Z., et al. (2022) · Cancers · doi:10.3390/cancers14082000 · Cited by 28

Stress-induced reduction of Na + /H + exchanger isoform 1 promotes maladaptation of neuroplasticity and exacerbates depressive behaviors

Li, Y., Fan, C., Wang, C., Wang, L., Yi, Y., Mao, X., Chen, X., Lan, T., Wang, W., & Yu, S. Y. (2022) · Science Advances · doi:10.1126/sciadv.add7063 · Cited by 27

A single strand that links multiple neuropathologies in human disease

Reynolds, J. J., & Stewart, G. S. (2013) · Brain · doi:10.1093/brain/aws310 · Cited by 28

Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template

Lindig, T. M., Bender, B., Kumar, V., Hauser, T., Grodd, W., Brendel, B., Just, J., Synofzik, M., Klose, U., Scheffler, K., et al. (2019) · The Cerebellum · doi:10.1007/s12311-019-1008-z · Cited by 28

SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate

Zhang, H., Hong, Y., Yang, W., Wang, R., Yao, T., Wang, J., Liu, K., Yuan, H., Xu, C., Zhou, Y., et al. (2021) · National Science Review · doi:10.1093/nsr/nwab024 · Cited by 26

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A., et al. (2018) · Brain · doi:10.1093/brain/awy198 · Cited by 25

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

Maruyama, H., Morino, H., Miyamoto, R., Murakami, N., Hamano, T., & Kawakami, H. (2013) · Clinical Genetics · doi:10.1111/cge.12140 · Cited by 25

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside

Mylvaganam, S., Earnshaw, R., Heymann, G., Kalia, S. K., & Kalia, L. V. (2020) · Current Neuropharmacology · doi:10.2174/1570159x18666201116145507 · Cited by 26

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Ravel, J., Benkirane, M., Calmels, N., Marelli, C., Ory‐Magne, F., Ewenczyk, C., Halleb, Y., Tison, F., Lecocq, C., Pisché, G., et al. (2021) · Journal of Neurology · doi:10.1007/s00415-020-10348-x · Cited by 29

Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders

Im, W., Moon, J., & Kim, M. (2016) · Journal of Movement Disorders · doi:10.14802/jmd.16029 · Cited by 25

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Nguyen, M. K., Boesten, I., Hellebrekers, D. M. E. I., Vanoevelen, J. M., Kamps, R., de Koning, B., de Coo, I. F. M., Gerards, M., & Smeets, H. J. M. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.158 · Cited by 25

Recent Advances in the Genetic Etiology of Brain Malformations

Dyment, D. A., Sawyer, S. L., Warman‐Chardon, J., & Boycott, K. M. (2013) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-013-0364-1 · Cited by 23

A Critical Role for ISGylation, Ubiquitination and, SUMOylation in Brain Damage: Implications for Neuroprotection

Nakka, V. P., & Mohammed, A. Q. (2020) · Neurochemical Research · doi:10.1007/s11064-020-03066-3 · Cited by 23

Ataxias: Hereditary, Acquired, and Reversible Etiologies

Lin, C.-Y. R., & Kuo, S. (2023) · Seminars in Neurology · doi:10.1055/s-0043-1763511 · Cited by 26

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Mallaret, M., Renaud, M., Redin, C. E., Drouot, N., Muller, J., Séverac, F., Mandel, J., Hamza, W., Benhassine, T., Alipacha, L., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8112-5 · Cited by 25

Movement Disorders in Children

Pearson, T. S., & Pons, R. M. (2019) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000756 · Cited by 22

Region‐specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1

White, J. J., Bosman, L. W. J., Blot, F. G. C., Osório, C., Kuppens, B. W., Krijnen, W. H. J. J., Andriessen, C. A., Zeeuw, C. I. D., Jaarsma, D., & Schonewille, M. (2021) · Brain Pathology · doi:10.1111/bpa.12946 · Cited by 22

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Stevens, J. C., Murphy, S. M., Davagnanam, I., Phadke, R., Anderson, G. W., Nethisinghe, S., Bremner, F., Giunti, P., & Reilly, M. M. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-303634 · Cited by 22

ATM mutation spectrum in Russian children with ataxia-telangiectasia

Suspitsin, E. N., Соколенко, А. П., Валерьевич, Б. И., Tumakova, A. V., Николаевна, Г. М., Sokolova, N., Vakhlyarskaya, S. S., Вадимовна, К. И., & Имянитов, Е. Н. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.02.003 · Cited by 22

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

Habibzadeh, P., Inaloo, S., Silawi, M., Dastsooz, H., Fard, M. A. F., Sadeghipour, F., Faghihi, Z., Rezaeian, M., Yavarian, M., Böhm, J., et al. (2019) · Frontiers in Neurology · doi:10.3389/fneur.2019.00944 · Cited by 22

Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia

Brueggemann, A., Bicvic, A., Goeldlin, M. B., Kalla, R., Kerkeni, H., Mantokoudis, G., Abegg, M. H., Kolníková, M., Mohaupt, M. G., & Brémovà-Ertl, T. (2021) · Journal of Child Neurology · doi:10.1177/08830738211028394 · Cited by 21

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

Coutelier, M., Stévanin, G., & Brice, A. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7725-4 · Cited by 21

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Paap, B. K., Roeske, S., Dürr, A., Schöls, L. J., Ashizawa, T., Boesch, S., Bunn, L. M., Delatycki, M. B., Giunti, P., Lehéricy, S., et al. (2016) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12315 · Cited by 21

A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias

Malek, N., Makawita, C., Al‐Sami, Y., Aslanyan, A., & de Silva, R. N. (2022) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.13532 · Cited by 20

Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors

Carranza, D., Torres‐Rusillo, S., Ceballos-Pérez, G., Blanco-Jimenez, E., Muñoz-López, M., Garcia-Perez, J. L., & Molina, I. J. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02703 · Cited by 20

Maladie de Niemann-Pick de type C chez l’adulte et troubles psychiatriques : revue de littérature

Maubert, A., Hanon, C., & Metton, J.-P. (2013) · L Encéphale · doi:10.1016/j.encep.2013.04.013 · Cited by 20

A homozygous mutation ofVWA3Bcauses cerebellar ataxia with intellectual disability

Kawarai, T., Tajima, A., Kuroda, Y., Saji, N., Orlacchio, A., Terasawa, H., Shimizu, H., Kita, Y., Izumi, Y., Mitsui, T., et al. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-309828 · Cited by 20

Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity

Fliegel, L. (2020) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-020-03984-4 · Cited by 19

Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?

Pilotto, F., Bondio, A. D., & Puccio, H. M. (2024) · Cells · doi:10.3390/cells13040319 · Cited by 25

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea

Carré, G., Marelli, C., Anheim, M., Gény, C., Renaud, M., Rezvani, H. R., Koenig, M., Guissart, C., & Tranchant, C. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.03.021 · Cited by 19

Cerebellar Ataxia in Children

Alves, C., Fragoso, D. C., Gonçalves, F. G., Marussi, V. H. R., & do Amaral, L. L. F. (2018) · Topics in Magnetic Resonance Imaging · doi:10.1097/rmr.0000000000000175 · Cited by 19

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants

Duan, X., Hao, Y., Cao, Z., Zhou, C., Zhang, J., Wang, R., Sun, S., & Gu, W. (2020) · The Cerebellum · doi:10.1007/s12311-020-01186-8 · Cited by 19

The Cerebellum Looks Normal in Friedreich Ataxia

Mascalchi, M. (2013) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3480 · Cited by 19

Daily bone marrow cell transplantations for the management of fast neurodegenerative processes

Díaz, D., del Pilar, C., Carretero, J., Alonso, J. R., & Weruaga, E. (2019) · Journal of Tissue Engineering and Regenerative Medicine · doi:10.1002/term.2925 · Cited by 18

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

Guissart, C., Drouot, N., Öncel, I. H., Leheup, B., Gershoni-Barush, R., Muller, J., Ferdinandusse, S., Larrieu, L., Anheim, M., Arslan, E. A., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.259 · Cited by 17

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

Riso, V., Rossi, S., Nicoletti, T. F., Tessa, A., Travaglini, L., Zanni, G., Aiello, C., Perna, A., Barghigiani, M., Pomponi, M. G., et al. (2021) · Brain Sciences · doi:10.3390/brainsci11020246 · Cited by 17

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review

Lew, S. Y., Phang, M. W. L., Chong, P. S., Roy, J., Poon, C. H., Yu, W. S., Lim, L. W., & Wong, K. H. (2022) · Pharmaceuticals · doi:10.3390/ph15060764 · Cited by 18

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

Suero, G. O., Abildúa, M. J. A., Serrano, C., Axpe, I. R., Gutiérrez, F. J. A., Adarmes-Gómez, A. D., Garrido, F. J. R. D. R., Castro, B., Rodríguez, I. P., Bermejo, A. V., et al. (2021) · Neurología · doi:10.1016/j.nrl.2021.01.006 · Cited by 16

Claves para afrontar el reto diagnóstico de las heredoataxias recesivas

Arias, M. (2016) · Neurología · doi:10.1016/j.nrl.2016.06.006 · Cited by 16

A new PNPLA6 mutation presenting as Oliver McFarlane syndrome

Patsi, O., de Beaufort, C. E., Kerschen, P., Cardillo, S., Soehn, A. S., Rautenberg, M., & Diederich, N. J. (2018) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2018.06.016 · Cited by 16

The wide POLG-related spectrum: An integrated view

Béreau, M., Anheim, M., Echaniz‐Laguna, A., Magot, A., Verny, C., Goideau-Sevrain, M., Barth, M., Amati‐Bonneau, P., Allouche, S., Ayrignac, X., et al. (2016) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.06.062 · Cited by 15

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective

Foo, J. N., Liu, J., & Tan, E. (2013) · Human Genetics · doi:10.1007/s00439-013-1287-2 · Cited by 16

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial

Beyraghi‐Tousi, M., Sahebkar, A., Houra, M., Sarvghadi, P., Jamialahmadi, T., Bagheri, R., Tavallaie, S., Gumpricht, E., & Saberi‐Karimian, M. (2024) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2024.04.009 · Cited by 14

SYNE1 mutations cause autosomal‐recessive ataxia with retained reflexes in Brazilian patients

Gama, M. T. D., Houle, G., Noreau, A., Dionne‐Laporte, A., Dion, P. A., Rouleau, G. A., Barsottini, O. G. P., & Pedroso, J. L. (2016) · Movement Disorders · doi:10.1002/mds.26810 · Cited by 14

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

Suero, G. O., Abildúa, M. J. A., Serrano, C., Axpe, I. R., Gutiérrez, F. J. A., Adarmes-Gómez, A. D., Garrido, F. J. R. D. R., Castro, B., Rodríguez, I. P., Bermejo, A. V., et al. (2023) · Neurología (English Edition) · doi:10.1016/j.nrleng.2023.04.003 · Cited by 14

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Habibzadeh, P., Tabatabaei, Z., Inaloo, S., Nashatizadeh, M. M., Synofzik, M., Ostovan, V. R., & Faghihi, M. A. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.585136 · Cited by 14

DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors

Gilmore, E. C. (2014) · Neurogenetics · doi:10.1007/s10048-014-0415-z · Cited by 14

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

Mancini, C., Orsi, L., Guo, Y., Li, J., Chen, Y., Wang, F., Tian, L., Liu, X., Zhang, J., Jiang, H., et al. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0159-0 · Cited by 13

MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus

Frismand, S., Hannoun, S., Panouillères, M., Pélisson, D., Jacobs, S., Vighetto, A., Cotton, F., & Tilikete, C. (2013) · NeuroImage Clinical · doi:10.1016/j.nicl.2013.03.018 · Cited by 13

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

Takahashi, Y. K., Kubota, M., Kosaki, R., Kosaki, K., & Ishiguro, A. (2020) · Brain and Development · doi:10.1016/j.braindev.2020.11.008 · Cited by 13

Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia

Mišković, N., Domingo, A., Dobričić, V. S., Max, C., Brænne, I., Petrović, I. N., Grütz, K., Pawlack, H., Tournev, I., Kalaydjieva, L. V., et al. (2016) · Movement Disorders · doi:10.1002/mds.26816 · Cited by 13

Ataxia Telangiectasia and Juvenile Idiopathic Arthritis

Pasini, A. M., Gagro, A., Roić, G., Vrdoljak, O., Lujić, L., & Žutelija-Fattorini, M. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1279 · Cited by 13

RNA That Gets RAN in Neurodegeneration

Taylor, J. P. (2013) · Science · doi:10.1126/science.1236450 · Cited by 13

Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report

Huang, X., & Fan, D. (2022) · World Journal of Clinical Cases · doi:10.12998/wjcc.v10.i2.703 · Cited by 12

SLC52A2 mutations cause SCABD2 phenotype: A second report

Babanejad, M., Adeli, O.-A., Nikzat, N., Beheshtian, M., Azarafra, H., Sadeghnia, F., Mohseni, M., Najmabadi, H., & Kahrizi, K. (2017) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2017.11.014 · Cited by 12

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

Perucca, G., Leboucq, N., Roubertie, A., Rivier, F., de Champfleur, N. M., Valentini, C., & Bonafé, A. (2016) · Journal of Neuroradiology · doi:10.1016/j.neurad.2016.03.006 · Cited by 11

SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey

Yücesan, E., İşerı̇, S. A. U., Bılgıç, B., Görmez, Z., Bakır-Güngör, B., Saraç, A., Özdemir, Ö., Sağıroğlu, M. Ş., Gurvit, H. I., Hanagasi, H. A., et al. (2017) · Neurological Sciences · doi:10.1007/s10072-017-3049-8 · Cited by 11

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis

Tabatabaiefar, M. A., Alipour, P., Pourahmadiyan, A., Fattahi, N., Shariati, L., Golchin, N., & Asl, J. M. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.06.012 · Cited by 11

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Chen, Z., Ye, W., Long, Z., Ding, D., Peng, H., Hou, X., Qiu, R., Xia, K., Tang, B., & Jiang, H. F. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139738 · Cited by 11

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

Lu, C., Zheng, Y., Dong, Y., & Li, H. (2016) · BMC Neurology · doi:10.1186/s12883-016-0696-y · Cited by 11

A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17

Algahtani, H. A., Shirah, B. H., AlMatrafi, S. A., Al-Qahtani, M. H., Abdulkareem, A. A., & Naseer, M. I. (2020) · Neurological Research · doi:10.1080/01616412.2020.1831331 · Cited by 11

A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias

Salari, M., Etemadifar, M., Rashedi, R., & Mardani, S. (2023) · The Cerebellum · doi:10.1007/s12311-023-01554-0 · Cited by 10

Neuropathy in GAA ‐ FGF14 Late‐Onset Cerebellar Ataxia ( SCA27B ): Prevalence and Characteristics

Theuriet, J., Paulet, L., Acket, B., Ory‐Magne, F., Belbachir, H., Chanson, J., Bouhour, F., Laurencin, C., Tilikete, C., Lardeux, P., et al. (2025) · European Journal of Neurology · doi:10.1111/ene.70247 · Cited by 10

Homeodomain Proteins Directly Regulate ATM Kinase Activity

Johnson, T. E., Lee, J., Myler, L. R., Zhou, Y., Mosley, T. J., Yang, S.-H., Uprety, N., Kim, J., & Paull, T. T. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.06.089 · Cited by 12

Inherited Ataxias in Children

Subramony, S. H., Burns, M., Kugelmann, E. L., & Zingariello, C. D. (2022) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2022.04.004 · Cited by 10

The Remaining Conundrum of the Role of the Na+/H+ Exchanger Isoform 1 (NHE1) in Cardiac Physiology and Pathology: Can It Be Rectified?

Karmazyn, M., Pierce, G. N., & Fliegel, L. (2022) · Reviews in Cardiovascular Medicine · doi:10.31083/j.rcm2308284 · Cited by 10

Emerging therapies in hereditary ataxias

Eisel, M. L. S., Burns, M., Ashizawa, T., Byrne, B. J., Corti, M., & Subramony, S. H. (2024) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.07.008 · Cited by 10

The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2

Brugger, F., Schüpbach, M. W. M., Koenig, M., Müri, R. M., Bohlhalter, S., Kaelin‐Lang, A., Kamm, C. P., & Kägi, G. (2014) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12021 · Cited by 10

A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia

Malgireddy, K. R., Thompson, R., & Torres‐Russotto, D. R. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.10.010 · Cited by 10

Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?

Heidelberg, D., Ronsin, S., Bonneville, F., Hannoun, S., Tilikete, C., & Cotton, F. (2018) · Journal of Neuroradiology · doi:10.1016/j.neurad.2018.05.005 · Cited by 10

Reply to: “Autosomal‐Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker”

Renaud, M., Tranchant, C., Koenig, M., & Anheim, M. (2021) · Movement Disorders · doi:10.1002/mds.28524 · Cited by 10

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, P., Navarro, C. L., Harhouri, K., Roll, P., Sigaudy, S., Kaspi, É., Perrin, S., Sandre‐Giovannoli, A. D., & Lévy, N. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.03.022 · Cited by 10

RPRM negatively regulates ATM levels through its nuclear translocation on irradiation mediated by CDK4/6 and IPO11

Zhang, Y., Ou, G., Ye, Z., Zhou, Z., Cao, Q., Li, M., Wang, J., Cao, J., & Yang, H. (2022) · iScience · doi:10.1016/j.isci.2022.105115 · Cited by 9

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

Pyle, A., Griffin, H. R., Duff, J., Bennett, S., Zwolinski, S. A., Smertenko, T., Yu‐Wai‐Man, P., Santibanez‐Koref, M., Horváth, R., & Chinnery, P. F. (2013) · Journal of Neurogenetics · doi:10.3109/01677063.2013.831094 · Cited by 9

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed

Mignarri, A., Cenciarelli, S., Pozzo, P. D., Cardaioli, E., Malandrini, A., Federico, A., & Dotti, M. T. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.12.040 · Cited by 9

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil

Burguêz, D., de Oliveira, C. M., Rockenbach, M. A. B. C., Fussiger, H., Vedolin, L., Winckler, P. B., Maestri, M. K., Finkelsztejn, A., Santorelli, F. M., Jardim, L. B., et al. (2017) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20170044 · Cited by 9

Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia

Guan, R., Wu, J., Ding, Z., Wang, J., & Sun, Y. (2019) · Clinical Genetics · doi:10.1111/cge.13669 · Cited by 9

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Májovská, J., Hennig, A., Nestrašil, I., Schneider, S. A., Jahnová, H., Vaněčková, M., Magner, M., & Dušek, P. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05757-3 · Cited by 8

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis

Cavone, F., Cappelli, S., Bonuccelli, A., D’Elios, S., Costagliola, G., Peroni, D. G., Orsini, A. A., & Consolini, R. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12186041 · Cited by 8

TMEM16 Membrane Proteins in Health and Disease

Yang, H., & Jan, L. Y. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802002-9.00007-8 · Cited by 8

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset

Cabet, S., Putoux, A., Carneiro, M., Labalme, A., Sanlaville, D., Guibaud, L., & Lesca, G. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103726 · Cited by 9

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Santos, M., Damásio, J., Carmona, S., Neto, J. L., Dehghani, N., Guedes, L. C., Barbot, C., Barros, J., Brás, J., Sequeiros, J., et al. (2022) · Cells · doi:10.3390/cells11060981 · Cited by 8

Item performance of the scale for the assessment and rating of ataxia in rare and ultra‐rare genetic ataxias

Hamdan, A., Hooker, A. C., Chen, X., Traschütz, A., Schüle, R., ARCA Study Group, Synofzik, M., & Karlsson, M. O. (2024) · CPT Pharmacometrics & Systems Pharmacology · doi:10.1002/psp4.13162 · Cited by 8

Ataxien und hereditäre spastische Spinalparalysen

Schüle, R., & Schöls, L. J. (2017) · Der Nervenarzt · doi:10.1007/s00115-017-0357-4 · Cited by 8

Autosomal recessive adult onset ataxia

Mišković, N., Stanković, I., Milovanović, A., & Kostić, V. (2021) · Journal of Neurology · doi:10.1007/s00415-021-10763-8 · Cited by 9

Eye Movement Abnormalities in Neurodegenerative Diseases

Rodríguez‐Labrada, R., Vázquez‐Mojena, Y., & Velázquez‐Pérez, L. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.81948 · Cited by 7

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

Arias, M., Mir, P., Fernández‐Matarrubia, M., Arpa, J., García-Ramos, R., Blanco-Arias, P., Quintáns, B., & Sobrido, M. J. (2021) · Neurología (English Edition) · doi:10.1016/j.nrleng.2019.01.014 · Cited by 7

PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice

Janzen, E., Wolff, L., Mendoza-Ferreira, N., Hupperich, K., Vedove, A. D., Hosseinibarkooie, S., Kye, M. J., & Wirth, B. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00993 · Cited by 7

Progress and challenges in sporadic late-onset cerebellar ataxias

Wirth, T., Faber, J., Depienne, C., Roze, E. F., Honnorat, J., Meissner, W. G., Giunti, P., Tranchant, C., Klockgether, T., & Anheim, M. (2025) · Nature Reviews Neurology · doi:10.1038/s41582-025-01136-0 · Cited by 8

Paraneoplastic cerebellar and brainstem disorders

Abbatemarco, J., Vedeler, C. A., & Greenlee, J. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-12-823912-4.00030-x · Cited by 6

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Nickerson, S. L., Marquis‐Nicholson, R., Claxton, K., Ashton, F., Leong, I. U. S., Prosser, D. O., Love, J. M., George, A. M., Taylor, G. R., Wilson, C. J., et al. (2015) · Microarrays · doi:10.3390/microarrays4040490 · Cited by 6

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia

Arias, M. (2018) · Neurología (English Edition) · doi:10.1016/j.nrleng.2018.07.001 · 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

Prospective study of activities of daily living outcomes in children with cerebellar atrophy

Al-Maawali, A. A., Blasér, S., Zhao, X. Y., & Yoon, G. (2013) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12289 · Cited by 6

Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs

Doshi, A., Ryu, J., Thornburg, C. D., Hershey, D., Cherry, R. N., Milligan, K. L., Rosenzweig, S. D., & Leonard, S. A. (2016) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2016.07.028 · Cited by 6

Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature

Al‐Ajmi, A., Shamsah, S., Janićijević, A., Williams, M., & Al‐Mulla, F. (2020) · World Journal of Clinical Cases · doi:10.12998/wjcc.v8.i8.1477 · Cited by 6

Ataxias

Shakkottai, V. G. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780199937837.003.0014

Adult-onset autosomal recessive cerebellar ataxia

INSERM (2020) · Definitions · doi:10.32388/ljdg4v

Autosomal recessive cerebellar ataxia with late-onset spasticity

INSERM (2020) · Definitions · doi:10.32388/muqm4f

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15

Breedveld, G. J., van Wetten, B., Raa, G. D. T., Brusse, E., Swieten, J. C. V., Oostra, B. A., & Maat-Kievit, J. A. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.019232 · Cited by 37

Genetics of recessive ataxia

Mhiri, C. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.09.262 · Cited by 1