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1999 1
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Page 1
Ataxia-telangiectasia: A review of clinical features and molecular pathology.
Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A. Amirifar P, et al. Pediatr Allergy Immunol. 2019 May;30(3):277-288. doi: 10.1111/pai.13020. Epub 2019 Mar 20. Pediatr Allergy Immunol. 2019. PMID: 30685876 Review.
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia-telangiectasia mutated (ATM) gene encoding a serine/threonine protein kinase. A-T patients represent a broad range of cli
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutation
Symptomatic myoclonus.
Borg M. Borg M. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):309-18. doi: 10.1016/j.neucli.2006.12.006. Epub 2007 Jan 17. Neurophysiol Clin. 2006. PMID: 17336775 Review.
In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), whose origin, in adult, is idiopathic or paraneoplastic. ...Of more recent knowledge is the association of progressive ataxia, myoclonus …
In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), who …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F. Bouhlal Y, et al. Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Parkinsonism Relat Disord. 2011. PMID: 21450511 Review.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ...This paper reviews the broad clinical features and
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic
Cone rod dystrophies.
Hamel CP. Hamel CP. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. Orphanet J Rare Dis. 2007. PMID: 17270046 Free PMC article. Review.
CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar Ataxia Type 7 (SCA7). Non syndromic CRDs are genetically heterogeneous (ten cloned genes and three loci have been identified so …
CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar
[Autosomal recessive cerebellar ataxias].
Anheim M. Anheim M. Rev Neurol (Paris). 2011 May;167(5):372-84. doi: 10.1016/j.neurol.2010.07.021. Epub 2010 Nov 17. Rev Neurol (Paris). 2011. PMID: 21087783 Review. French.
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative diseases that may affect the cerebellum and/or the spinocerebellar tract, the posterior column of the spinal cord and the peripheral n …
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative d …
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Can J Neurol Sci. 2009. PMID: 19650351 Review.
The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh …
The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, an …
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Berciano J, García A, Infante J. Berciano J, et al. Handb Clin Neurol. 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. Handb Clin Neurol. 2013. PMID: 23931821 Review.
The main categories in this classification were as follows: (1) early onset cerebellar ataxia (EOCA) with age of onset below 25 years and usually with autosomal recessive (AR) transmission (this group encompasses FA and syndromes different from FA); (2) au
The main categories in this classification were as follows: (1) early onset cerebellar ataxia (EOCA) with age of onset below 25 years …
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA. van Os NJ, et al. Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26662178 Review.
Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. ...
Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased
Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia.
Pilotto F, Chellapandi DM, Puccio H. Pilotto F, et al. Trends Mol Med. 2024 Feb;30(2):117-125. doi: 10.1016/j.molmed.2023.12.002. Epub 2024 Jan 24. Trends Mol Med. 2024. PMID: 38272714 Review.
Friedreich ataxia (FA) is an inherited autosomal recessive neurodegenerative disease (NDD) characterized primarily by progressive sensory and spinocerebellar ataxia associated with hypertrophic cardiomyopathy. ...
Friedreich ataxia (FA) is an inherited autosomal recessive neurodegenerative disease (NDD) characterized primarily by p …
The hereditary spinocerebellar ataxias in Japan.
Sasaki H, Yabe I, Tashiro K. Sasaki H, et al. Cytogenet Genome Res. 2003;100(1-4):198-205. doi: 10.1159/000072855. Cytogenet Genome Res. 2003. PMID: 14526181 Review.
In Japan, multiple system atrophy (MSA) accounts for 40% of all spinocerebellar ataxias (SCAs) and hereditary disorders account for 30%. Among the latter, autosomal dominant disorders are common and recessive ataxias are rare. ...
In Japan, multiple system atrophy (MSA) accounts for 40% of all spinocerebellar ataxias (SCAs) and hereditary disorders accoun …
12 results