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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1967 3
1968 5
1969 3
1970 4
1971 8
1972 8
1973 7
1974 7
1975 5
1976 4
1977 9
1978 9
1979 8
1980 13
1981 10
1982 5
1983 9
1984 13
1985 14
1986 8
1987 8
1988 4
1989 10
1990 10
1991 8
1992 10
1993 19
1994 20
1995 34
1996 27
1997 32
1998 23
1999 32
2000 45
2001 41
2002 27
2003 39
2004 33
2005 38
2006 38
2007 47
2008 38
2009 29
2010 28
2011 40
2012 57
2013 32
2014 43
2015 34
2016 43
2017 29
2018 65
2019 53
2020 46
2021 46
2022 34
2023 9
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Search Results

1,235 results
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Page 1
Spinocerebellar ataxia: an update.
Sullivan R, Yau WY, O'Connor E, Houlden H. Sullivan R, et al. J Neurol. 2019 Feb;266(2):533-544. doi: 10.1007/s00415-018-9076-4. Epub 2018 Oct 3. J Neurol. 2019. PMID: 30284037 Free PMC article. Review.
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. ...
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritanc …
Spinocerebellar ataxia.
Klockgether T, Mariotti C, Paulson HL. Klockgether T, et al. Nat Rev Dis Primers. 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. Nat Rev Dis Primers. 2019. PMID: 30975995 Review.
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. ...
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorde …
Machado-Joseph disease/spinocerebellar ataxia type 3.
Paulson H. Paulson H. Handb Clin Neurol. 2012;103:437-49. doi: 10.1016/B978-0-444-51892-7.00027-9. Handb Clin Neurol. 2012. PMID: 21827905 Free PMC article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited …
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tail …
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneou …
Spinocerebellar Ataxia Type 2.
Scoles DR, Pulst SM. Scoles DR, et al. Adv Exp Med Biol. 2018;1049:175-195. doi: 10.1007/978-3-319-71779-1_8. Adv Exp Med Biol. 2018. PMID: 29427103 Review.
Spinocerebellar ataxia type 2 (SCA2) is autosomal dominantly inherited and caused by CAG repeat expansion in the ATXN2 gene. Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATX …
Spinocerebellar ataxia type 2 (SCA2) is autosomal dominantly inherited and caused by CAG repeat expansion in the ATXN2 gene. B …
Pathogenesis of SCA3 and implications for other polyglutamine diseases.
McLoughlin HS, Moore LR, Paulson HL. McLoughlin HS, et al. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. Neurobiol Dis. 2020. PMID: 31669734 Free PMC article. Review.
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17). The underlying disease mechanism in the po …
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy …
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 clinical manifest …
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia …
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 dominant spinocer …
It is now established that the basal ganglia and cerebellum, two major subcortical nodes, are linked by disynaptic pathways ensuring bidirec …
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.
Matos CA, de Almeida LP, Nóbrega C. Matos CA, et al. J Neurochem. 2019 Jan;148(1):8-28. doi: 10.1111/jnc.14541. Epub 2018 Oct 5. J Neurochem. 2019. PMID: 29959858 Free article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. ...
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as …
Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review.
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N. Yap KH, et al. J Neurol. 2022 May;269(5):2315-2337. doi: 10.1007/s00415-021-10874-2. Epub 2021 Nov 6. J Neurol. 2022. PMID: 34743220 Review.
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. ...Ten therapies had Level B recommendations for managing ataxia symptoms and requi …
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inhe …
1,235 results