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158 results

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Page 1
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Rothblum-Oviatt C, et al. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. Orphanet J Rare Dis. 2016. PMID: 27884168 Free PMC article. Review.
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. ...
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebella …
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. ...
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in at …
Spastic ataxias.
Bereznyakova O, Dupré N. Bereznyakova O, et al. Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Handb Clin Neurol. 2018. PMID: 29891058 Review.
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E defici …
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive …
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Amirifar P, et al. Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15. Expert Rev Clin Immunol. 2020. PMID: 32791865 Review.
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. ...
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxi …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Review.
The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10(5), the average being 3.3/10(5) (1.8-4.9/10(5)). ...The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while S …
The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10(5), the average being 3.3/10(5) (1.8-4.9/10(5)). ... …
Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly neurodegenerative genetic disorders which usually start in childhood or early adult life. ...These include Friedreich ataxia, spastic parap …
Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly …
The autosomal recessive cerebellar ataxias.
Anheim M, Tranchant C, Koenig M. Anheim M, et al. N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. N Engl J Med. 2012. PMID: 22335741 Review. No abstract available.
Ataxia telangiectasia.
Nissenkorn A, Ben-Zeev B. Nissenkorn A, et al. Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7. Handb Clin Neurol. 2015. PMID: 26564081 Review.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. ...
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encodin …
[Autosomal recessive spinocerebellar ataxias in Japan].
Tanaka F, Doi H, Kunii M. Tanaka F, et al. Rinsho Shinkeigaku. 2016 Jun 22;56(6):395-9. doi: 10.5692/clinicalneurol.cn-000879. Epub 2016 May 14. Rinsho Shinkeigaku. 2016. PMID: 27181749 Review. Japanese.
Recent new sequencing techniques allow the identification of novel responsible genes for autosomal recessive spinocerebellar ataxias (ARCAs). However, the same phenotypes are sometimes attributed to the different responsible genes in ARCAs. ...
Recent new sequencing techniques allow the identification of novel responsible genes for autosomal recessive spinocerebella …
158 results