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1964
2025

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

Year Number of Results
1964 1
1968 1
1969 3
1970 1
1972 4
1973 1
1974 1
1975 3
1977 1
1978 1
1979 4
1981 1
1982 1
1983 3
1984 1
1985 5
1986 7
1987 7
1988 14
1989 10
1990 18
1991 18
1992 14
1993 17
1994 18
1995 11
1996 18
1997 29
1998 28
1999 27
2000 35
2001 36
2002 39
2003 36
2004 39
2005 45
2006 37
2007 40
2008 46
2009 50
2010 34
2011 54
2012 50
2013 44
2014 48
2015 52
2016 70
2017 46
2018 67
2019 40
2020 55
2021 44
2022 52
2023 38
2024 52
2025 2

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1,270 results

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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with later …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
The Cerebellum and Neurodevelopmental Disorders.
Stoodley CJ. Stoodley CJ. Cerebellum. 2016 Feb;15(1):34-37. doi: 10.1007/s12311-015-0715-3. Cerebellum. 2016. PMID: 26298473 Free PMC article. Review.
Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the cerebellum is particularly important during development. ...These data confirm the prediction that abnormalities in different c
Early cerebellar damage is often associated with poorer outcomes than cerebellar damage in adulthood, suggesting that the c
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. ...Neurological symptoms most often first appear …
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degen …
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". ...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation re …
Diagnostic Approach to Cerebellar Hypoplasia.
Accogli A, Addour-Boudrahem N, Srour M. Accogli A, et al. Cerebellum. 2021 Aug;20(4):631-658. doi: 10.1007/s12311-020-01224-5. Epub 2021 Feb 3. Cerebellum. 2021. PMID: 33534089 Review.
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. ...Traditionally, neuroimaging has been a key tool to categorize CH based on the pattern of cerebellar involvement (e.g., hypoplasia of cerebellar vermis only vs.
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. ...Traditionally, neuroimaging has b
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign," and variable organ involvement. ...
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem mal …
X-linked ataxias.
Zanni G, Bertini E. Zanni G, et al. Handb Clin Neurol. 2018;155:175-189. doi: 10.1016/B978-0-444-64189-2.00011-1. Handb Clin Neurol. 2018. PMID: 29891057 Review.
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characterized by cerebellar dysgenesis (hypoplasia, atrophy, or dysplasia) caused by gene mutations or genomic imbalances on the X chromosome. T …
X-linked cerebellar ataxias (XLCA) are an expanding group of genetically heterogeneous and clinically variable conditions characteriz …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Metabolic ataxias.
Ismail FY, Mitoma H, Fatemi A. Ismail FY, et al. Handb Clin Neurol. 2018;155:117-127. doi: 10.1016/B978-0-444-64189-2.00008-1. Handb Clin Neurol. 2018. PMID: 29891054 Review.
As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, many of these disorders present in a multisystem fashion with ataxia being a part of the neurologic symptom complex. ...This chapter provide …
As a result, many disorders of intermediary metabolism will preferentially and sometimes selectively target the cerebellum. However, …
1,270 results