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

Year Number of Results
1969 1
1970 2
1971 2
1972 3
1973 2
1974 2
1975 5
1977 1
1978 1
1979 3
1980 1
1981 6
1982 2
1983 6
1984 2
1985 9
1986 4
1987 11
1988 18
1989 13
1990 18
1991 18
1992 26
1993 27
1994 20
1995 13
1996 14
1997 39
1998 31
1999 43
2000 33
2001 37
2002 44
2003 34
2004 40
2005 46
2006 29
2007 45
2008 50
2009 58
2010 42
2011 57
2012 54
2013 63
2014 56
2015 55
2016 67
2017 65
2018 70
2019 44
2020 70
2021 49
2022 58
2023 42
2024 10

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1,411 results

Results by year

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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.
Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. ...DIAGNOSIS: The diagnosis of A-T is usually suspected by the com …
Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalitie
Reward and aversion in a heterogeneous midbrain dopamine system.
Lammel S, Lim BK, Malenka RC. Lammel S, et al. Neuropharmacology. 2014 Jan;76 Pt B(0 0):351-9. doi: 10.1016/j.neuropharm.2013.03.019. Epub 2013 Apr 8. Neuropharmacology. 2014. PMID: 23578393 Free PMC article. Review.
The ventral tegmental area (VTA) is a heterogeneous brain structure that serves a central role in motivation and reward processing. Abnormalities in the function of VTA dopamine (DA) neurons and the targets they influence are implicated in several prominent neuropsy …
The ventral tegmental area (VTA) is a heterogeneous brain structure that serves a central role in motivation and reward processing. …
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.
Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical outcomes following pediatric cerebellar damage. These data confirm the prediction that abnormalities in different cerebellar subregion …
Here, we briefly review cerebellar structural and functional differences in autism, ADHD, and developmental dyslexia, and discuss clinical o …
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 …
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
Thus, the third step is to evaluate for five distinct characteristics-including enhancement, lesions with signal intensity similar to that of cerebrospinal fluid, susceptibility-weighted MRI signal intensity abnormalities, abnormal peaks at MR spectroscopy, and spinal cord …
Thus, the third step is to evaluate for five distinct characteristics-including enhancement, lesions with signal intensity similar to that o …
Subacute sclerosing panencephalitis.
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R. Garg RK, et al. Rev Med Virol. 2019 Sep;29(5):e2058. doi: 10.1002/rmv.2058. Epub 2019 Jun 24. Rev Med Virol. 2019. PMID: 31237061 Review.
Subacute sclerosing panencephalitis (SSPE) is a slowly progressive brain disorder caused by mutant measles virus. SSPE affects younger age groups. ...Neuroimaging demonstrates periventricular white matter signal abnormalities. In advanced stages, there is marked cer …
Subacute sclerosing panencephalitis (SSPE) is a slowly progressive brain disorder caused by mutant measles virus. SSPE affects younge …
The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders.
Fetit R, Hillary RF, Price DJ, Lawrie SM. Fetit R, et al. Neurosci Biobehav Rev. 2021 Oct;129:35-62. doi: 10.1016/j.neubiorev.2021.07.014. Epub 2021 Jul 14. Neurosci Biobehav Rev. 2021. PMID: 34273379 Review.
Post-mortem studies allow for the direct investigation of brain tissue in those with autism and related disorders. Several review articles have focused on aspects of post-mortem abnormalities but none has brought together the entire post-mortem literature. ...
Post-mortem studies allow for the direct investigation of brain tissue in those with autism and related disorders. Several review art …
Midbrain, Pons, and Medulla: Anatomy and Syndromes.
Sciacca S, Lynch J, Davagnanam I, Barker R. Sciacca S, et al. Radiographics. 2019 Jul-Aug;39(4):1110-1125. doi: 10.1148/rg.2019180126. Radiographics. 2019. PMID: 31283463 Review.
The anatomy of the brainstem is complex. It contains numerous cranial nerve nuclei and is traversed by multiple tracts between the brain and spinal cord. Improved MRI resolution now allows the radiologist to identify a higher level of anatomic detail, but an underst …
The anatomy of the brainstem is complex. It contains numerous cranial nerve nuclei and is traversed by multiple tracts between the …
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 …
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 lateral atax …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
1,411 results