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Year Number of Results
1980 1
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1986 1
1987 1
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1990 3
1991 3
1992 1
1993 2
1994 2
1995 2
1996 4
1997 7
1998 4
1999 3
2000 7
2001 4
2002 1
2003 5
2004 3
2005 3
2006 2
2007 8
2008 2
2009 4
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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. ...Pulmonary disease and problems …
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by ce …
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 …
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 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal re …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxi …
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. Mutations cause A-T …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebella …
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 isol …
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive …
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. ...To guide clinical workup and management in SCA …
Recessive ataxias (spinocerebellar ataxias, recessive or SCARs) are a heterogeneous group of rare, mostly …
Spinocerebellar ataxia type 48: last but not least.
De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27. Neurol Sci. 2020. PMID: 32342324 Review.
INTRODUCTION: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, a new …
INTRODUCTION: Biallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16 …
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 typically begins around the time children start to walk at about 1 year of age and leads to w …
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene …
Cerebellar ataxias: an update.
Manto M, Gandini J, Feil K, Strupp M. Manto M, et al. Curr Opin Neurol. 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. Curr Opin Neurol. 2020. PMID: 31789706 Review.
It is now established that the basal ganglia and cerebellum, two major subcortical nodes, are linked by disynaptic pathways ensuring bidirectional communication. Inherited ataxias include autosomal recessive cerebellar ataxias (ARCAs), autosomal …
It is now established that the basal ganglia and cerebellum, two major subcortical nodes, are linked by disynaptic pathways ensuring bidirec …
Expanding the Landscape of Spinocerebellar Ataxia Type 5.
Benevides ML, França M Jr. Benevides ML, et al. Neuropediatrics. 2022 Oct;53(5):358-360. doi: 10.1055/a-1849-8128. Epub 2022 May 11. Neuropediatrics. 2022. PMID: 35545114 Review.
Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of SCA that usually affects adults. ...Expanding the landscape of SCA5 is relevant to the differential diagnosis of ataxic cerebral palsy and the autosomal recessive cerebellar ataxias....
Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of SCA that usually affects adults. ...Expanding the landscape of SCA5 …
153 results