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

Year Number of Results
1980 1
1982 1
1995 1
2004 1
2005 1
2008 1
2009 1
2010 1
2012 1
2013 3
2014 3
2015 5
2016 5
2017 4
2018 2
2019 2
2020 9
2021 10
2022 13
2023 8
2024 3

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61 results

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Page 1
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.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. ...This review will desc …
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal …
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.
To date, gene-phenotype correlates have been delineated only for a handful of genes, directly translating into improved counseling and clinical care. For instance, JS individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis, wh …
To date, gene-phenotype correlates have been delineated only for a handful of genes, directly translating into improved counseling and clini …
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J. Kang L, et al. J Control Release. 2023 Mar;355:458-473. doi: 10.1016/j.jconrel.2023.01.067. Epub 2023 Feb 13. J Control Release. 2023. PMID: 36736907 Free article. Review.
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino acid decarboxylase deficiency, Luxturna for hereditary retinal dystrophy, and Zolgensma for spinal muscular atrophy. All these …
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino …
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.
Although we anticipate future progress in the development of more effective targeted interventions, the current guidelines are meant to provide a starting point for the management of these complex conditions in the context of personalized health care....
Although we anticipate future progress in the development of more effective targeted interventions, the current guidelines are meant to prov …
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB. Huang XF, et al. Genet Med. 2015 Apr;17(4):271-8. doi: 10.1038/gim.2014.138. Epub 2014 Nov 6. Genet Med. 2015. PMID: 25356976 Free article.
PURPOSE: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. ...RESULTS: In 99 unrelated patients, a total of 124 mutations in known retinal disease genes were identified, including 79 novel mutations (detection rate, 55.3%). ...
PURPOSE: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. ...RESULTS: In 99 unrelated patients, a …
Laser treatment in retinitis pigmentosa-a review.
Gawęcki M. Gawęcki M. Lasers Med Sci. 2020 Oct;35(8):1663-1670. doi: 10.1007/s10103-020-03036-9. Epub 2020 May 20. Lasers Med Sci. 2020. PMID: 32435907 Review.
The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser", "retinitis pigmentosa", "rod-cone dystrophy", and "retinal dystrophy". Results were stratified as clinical or experi …
The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser …
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S. Parameswarappa DC, et al. Int Ophthalmol. 2022 Oct;42(10):3137-3144. doi: 10.1007/s10792-022-02313-6. Epub 2022 May 18. Int Ophthalmol. 2022. PMID: 35585370
Males were majority, 63%. Mean ( standard deviation) age when retinal dystrophy was diagnosed was 29.6 9.4 years and PACD was diagnosed at 32.23 7.92 years. ...Mean Intraocular pressure at diagnosis of glaucoma was 27 16 mmHg (95% CI 23.5, 31.5 mmHg). The most commo …
Males were majority, 63%. Mean ( standard deviation) age when retinal dystrophy was diagnosed was 29.6 9.4 years and PACD was …
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2022 Apr;106(4):445-451. doi: 10.1136/bjophthalmol-2020-318483. Epub 2021 Mar 12. Br J Ophthalmol. 2022. PMID: 33712480 Free PMC article. Review.
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. Given its monogenic nature and the immunological and anatomical privileges of the eye, LCA has been particularly targeted by cutting-edge research. ...Pharmacological approaches i …
Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. Given its monogenic nature and the immu …
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Aoun M, et al. Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207. Int J Mol Sci. 2021. PMID: 34281261 Free PMC article. Review.
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. ...Variants in …
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital …
61 results