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
1963 2
1966 2
1967 3
1968 2
1969 8
1970 5
1971 2
1972 1
1973 5
1974 4
1975 4
1976 3
1977 2
1978 4
1979 1
1980 6
1982 5
1983 6
1984 1
1985 2
1986 4
1987 1
1988 5
1989 16
1990 12
1991 22
1992 20
1993 19
1994 15
1995 20
1996 14
1997 19
1998 13
1999 30
2000 12
2001 31
2002 31
2003 25
2004 19
2005 26
2006 28
2007 19
2008 30
2009 31
2010 36
2011 38
2012 35
2013 42
2014 40
2015 37
2016 45
2017 49
2018 55
2019 34
2020 36
2021 47
2022 55
2023 40
2024 19

Text availability

Article attribute

Article type

Publication date

Search Results

1,047 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the most common clinical entities. Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequentl …
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which …
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA affecting the OPA1 gene. ...All forms of mitochondrial optic neuropathies, including LHON and DOA, can manifest either as pure optic …
Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA affecting the OPA …
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Lenaers G, et al. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual information from the retina to the brain. ...In 20% of cases, DOA presents as syndromic dis …
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific degeneration of retinal ganglion cells …
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.
BACKGROUND: Mitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one in 1500. ...The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary optic …
BACKGROUND: Mitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one …
A Diagnostic Approach to Spastic ataxia Syndromes.
Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP. Pedroso JL, et al. Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15. Cerebellum. 2022. PMID: 34782953 Review.
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. ...
Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is th …
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F. Urano F. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. Curr Diab Rep. 2016. PMID: 26742931 Free PMC article. Review.
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progressio …
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atr …
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F. Rigoli L, et al. Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. Int J Environ Res Public Health. 2022. PMID: 35328914 Free PMC article. Review.
It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). ...
It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) …
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches. ...
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therap …
Spastic ataxias.
Bereznyakova O, Dupré N. Bereznyakova O, et al. Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Handb Clin Neurol. 2018. PMID: 29891058 Review.
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E …
The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic …
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. de Muijnck C, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9. Surv Ophthalmol. 2023. PMID: 36764396 Free article. Review.
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define th …
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram …
1,047 results