Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1976 1
1977 2
1978 1
1980 1
1981 2
1982 1
1983 3
1984 3
1985 1
1986 1
1987 5
1988 5
1989 4
1990 3
1991 6
1992 8
1993 3
1994 8
1995 5
1996 5
1997 8
1998 3
1999 13
2000 7
2001 9
2002 5
2003 12
2004 15
2005 13
2006 17
2007 15
2008 13
2009 15
2010 6
2011 15
2012 21
2013 20
2014 23
2015 23
2016 27
2017 24
2018 27
2019 40
2020 44
2021 38
2022 29
2023 34
2024 17

Text availability

Article attribute

Article type

Publication date

Search Results

517 results

Results by year

Filters applied: . Clear all
Page 1
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes.
Lee WJ, Lee HS, Kim DY, Lee HS, Moon J, Park KI, Lee SK, Chu K, Lee ST. Lee WJ, et al. Brain. 2022 Oct 21;145(10):3509-3521. doi: 10.1093/brain/awac166. Brain. 2022. PMID: 35512357
Seronegative autoimmune encephalitis was subcategorized into antibody-negative probable autoimmune encephalitis, autoimmune limbic encephalitis and acute disseminated encephalomyelitis. Poor 2-year outcome was defined by modified Rankin scale scores 3-6, and the 2-year ser …
Seronegative autoimmune encephalitis was subcategorized into antibody-negative probable autoimmune encephalitis, autoimmune limbic encephali …
Consensus Paper: Cerebellum and Ageing.
Arleo A, Bareš M, Bernard JA, Bogoian HR, Bruchhage MMK, Bryant P, Carlson ES, Chan CCH, Chen LK, Chung CP, Dotson VM, Filip P, Guell X, Habas C, Jacobs HIL, Kakei S, Lee TMC, Leggio M, Misiura M, Mitoma H, Olivito G, Ramanoël S, Rezaee Z, Samstag CL, Schmahmann JD, Sekiyama K, Wong CHY, Yamashita M, Manto M. Arleo A, et al. Cerebellum. 2024 Apr;23(2):802-832. doi: 10.1007/s12311-023-01577-7. Epub 2023 Jul 10. Cerebellum. 2024. PMID: 37428408 Free PMC article. Review.
The cerebellum undergoes structural and functional changes with aging, being involved in mobility frailty and related cognitive impairment as observed in the physio-cognitive decline syndrome (PCDS) affecting older, functionally-preserved adults who show slowness and/or we …
The cerebellum undergoes structural and functional changes with aging, being involved in mobility frailty and related cognitive impairment a …
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed more for the cases with gain-of-function variants as compared to those with loss-of-function. ...Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration i …
Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed more for the cases with gain-of-function vari …
Acute Cerebellitis or Postinfectious Cerebellar Ataxia? Clinical and Imaging Features in Acute Cerebellitis.
Yildirim M, Gocmen R, Konuskan B, Parlak S, Yalnizoglu D, Anlar B. Yildirim M, et al. J Child Neurol. 2020 May;35(6):380-388. doi: 10.1177/0883073820901407. Epub 2020 Mar 12. J Child Neurol. 2020. PMID: 32160830
Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cerebellar atrophy in 9. The diagnosis of acute cerebellitis rather than acute postinfectious cerebellar ataxia should be considered …
Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cere …
Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. ...SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and …
Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. ...SPG4, SPG6, SPG1 …
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.
Majovska J, Nestrasil I, Paulson A, Nascene D, Jurickova K, Hlavata A, Lund T, Orchard PJ, Vaneckova M, Zeman J, Magner M, Dusek P. Majovska J, et al. Mol Genet Metab. 2021 Mar;132(3):189-197. doi: 10.1016/j.ymgme.2020.11.008. Epub 2020 Dec 3. Mol Genet Metab. 2021. PMID: 33317989
RESULTS: Focal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients. Cerebellar atrophy was common (62%), present from the age of 5 years. ...CONCLUSION: White matter changes and cerebellar atrophy are pr …
RESULTS: Focal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients. Cerebellar at …
Neuroimaging Applications in Chronic Ataxias.
Mascalchi M, Vella A. Mascalchi M, et al. Int Rev Neurobiol. 2018;143:109-162. doi: 10.1016/bs.irn.2018.09.011. Epub 2018 Oct 29. Int Rev Neurobiol. 2018. PMID: 30473193 Review.
MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporad …
MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atro …
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cy …
Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, …
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dys …
It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypo …
Pathogenic mechanisms underlying spinocerebellar ataxia type 1.
Tejwani L, Lim J. Tejwani L, et al. Cell Mol Life Sci. 2020 Oct;77(20):4015-4029. doi: 10.1007/s00018-020-03520-z. Epub 2020 Apr 18. Cell Mol Life Sci. 2020. PMID: 32306062 Free PMC article. Review.
Generally, the SCAs are characterized by a progressive gait impairment with classical cerebellar features, and in a subset of SCAs, accompanied by extra-cerebellar features. Beyond the common gait impairment and cerebellar atrophy, the wide range of additional clini …
Generally, the SCAs are characterized by a progressive gait impairment with classical cerebellar features, and in a subset of SCAs, accompan …
517 results