The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
The autosomal recessive cerebellar ataxias.
Abstract
Autosomal recessive cerebellar ataxia must be considered in any child or young adult with a progressive disorder of gait or balance or with hypotonia or excessive clumsiness. This review presents a practical approach to these neurodegenerative diseases.
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“One of the aging syndromes, ataxia telangiectasia (AT), results from a genetic defect in the DNA damage sensing kinase ataxia telangiectasia mutated (ATM) [72,73].”
From T-cell aging in rheumatoid arthritis (2014) · cites this paper as [73]
Citations
Cites
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
Self-citationA 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
Self-citationStewart, 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
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
Self-citation
Research works printed but not linked: 1
- Kearney M, 2009, Cochrane Database Syst Rev, 4, CD007791
Cited by
Sorted by citations
Ataxia telangiectasia: a review
Rothblum‐Oviatt, C., Wright, J., Lefton‐Greif, M. A., McGrath‐Morrow, S. A., Crawford, T. O., & Lederman, H. M. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0543-7 · Cited by 692
Paull, T. T. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034335 · Cited by 492
Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60630-3 · Cited by 342
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24611 · Cited by 315
Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S., Bainbridge, M., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.023 · Cited by 249
Self-citation
Metadata
- Authors
- Anheim, M., Tranchant, C., & Koenig, M.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-02-16
- Volume
- 366
- Issue
- 7
- Pages
- 636-646
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W3160886994
- Cited by
- 356
- References
- 53
- Citations by year
- 2026: 9 · 2025: 10 · 2024: 18 · 2023: 19 · 2022: 22 · 2021: 26 · 2020: 24 · 2019: 24 · 2018: 25 · 2017: 21 · 2016: 37 · 2015: 36 · 2014: 35 · 2013: 42 · 2012: 8
- FWCI
- 4.10
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- OpenGrey (Institut de l'Information Scientifique et Technique) (submittedVersion)
- HAL (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- autosomal recessive cerebellar ataxia, cerebellar ataxia, neurodegenerative diseases, gait and balance disorders, hypotonia, childhood ataxia, differential diagnosis
- MeSH terms
- Ataxia Telangiectasia, Cerebellar Ataxia, Friedreich Ataxia, Genes, Recessive, Humans, Biomarkers
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