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
2000 3
2001 5
2002 4
2003 3
2004 5
2005 6
2006 2
2007 3
2008 7
2009 6
2010 6
2011 6
2012 4
2013 10
2014 8
2015 7
2016 4
2017 4
2018 9
2019 6
2020 3
2021 3
2022 1
2023 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

100 results

Results by year

Filters applied: . Clear all
Page 1
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. 2019 International Parkinson and Movement Disorder Society....
Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosi …
Mitochondrial disease and epilepsy.
Rahman S. Rahman S. Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Dev Med Child Neurol. 2012. PMID: 22283595 Free article. Review.
Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. ...
Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative trea …
The eye in metabolic diseases: clues to diagnosis.
Poll-The BT, Maillette de Buy Wenniger-Prick CJ. Poll-The BT, et al. Eur J Paediatr Neurol. 2011 May;15(3):197-204. doi: 10.1016/j.ejpn.2011.03.005. Epub 2011 Apr 20. Eur J Paediatr Neurol. 2011. PMID: 21511505 Review.
The purpose of this article is to describe ocular phenotypes associated with IEM, focusing on those diseases in which the ocular involvement is seen relatively early in the course of the disease. As therapeutic approaches become available for certain groups of IEM, the nee …
The purpose of this article is to describe ocular phenotypes associated with IEM, focusing on those diseases in which the ocular involvement …
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
Kölker S, Burgard P, Sauer SW, Okun JG. Kölker S, et al. J Inherit Metab Dis. 2013 Jul;36(4):635-44. doi: 10.1007/s10545-013-9600-8. Epub 2013 Mar 20. J Inherit Metab Dis. 2013. PMID: 23512157 Review.
In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially understood. More work is required to predict the risk and to elucidate the mechanism of late-onset organ dysfunction, extracerebral diseas …
In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially under …
Genomics in newborn screening.
Landau YE, Lichter-Konecki U, Levy HL. Landau YE, et al. J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27. J Pediatr. 2014. PMID: 23992678 Review. No abstract available.
Enzyme-replacement therapy for metabolic storage disorders.
Brady RO, Schiffmann R. Brady RO, et al. Lancet Neurol. 2004 Dec;3(12):752-6. doi: 10.1016/S1474-4422(04)00938-X. Lancet Neurol. 2004. PMID: 15556808 Review.
BACKGROUND: After many years of intensive investigation, enzyme-replacement therapy (ERT) has become standard treatment for patients with type 1 (non-neuronopathic) Gaucher's disease. ERT has greatly changed the clinical course of this disorder by reducing hepatosplenomega …
BACKGROUND: After many years of intensive investigation, enzyme-replacement therapy (ERT) has become standard treatment for patients with ty …
100 results