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
1954 1
1955 1
1971 1
1972 2
1974 1
1975 2
1976 2
1977 6
1980 1
1981 2
1982 3
1983 6
1984 2
1985 6
1986 4
1987 5
1988 8
1989 9
1990 6
1991 8
1992 9
1993 8
1994 16
1995 8
1996 11
1997 12
1998 8
1999 15
2000 11
2001 17
2002 24
2003 17
2004 18
2005 27
2006 27
2007 35
2008 40
2009 39
2010 47
2011 55
2012 36
2013 43
2014 50
2015 49
2016 43
2017 35
2018 37
2019 56
2020 55
2021 51
2022 40
2023 39
2024 14

Text availability

Article attribute

Article type

Publication date

Search Results

942 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "X-linked parkinsonism-spasticity syndrome"
Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X- …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes res …
X-chromosome inactivation: implications in human disease.
Pereira G, Dória S. Pereira G, et al. J Genet. 2021;100:63. J Genet. 2021. PMID: 34553695 Free article. Review.
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address the skewed XCI, condition in which the process are not fully rand …
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as th …
VEXAS Syndrome-A Review of Pathophysiology, Presentation, and Prognosis.
Koster MJ, Samec MJ, Warrington KJ. Koster MJ, et al. J Clin Rheumatol. 2023 Sep 1;29(6):298-306. doi: 10.1097/RHU.0000000000001905. Epub 2022 Oct 17. J Clin Rheumatol. 2023. PMID: 36251488 Review.
VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the pr …
VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by …
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J. Niemann N, et al. Parkinsonism Relat Disord. 2019 Oct;67:74-89. doi: 10.1016/j.parkreldis.2019.06.025. Epub 2019 Jun 30. Parkinsonism Relat Disord. 2019. PMID: 31272925 Review.
Levodopa-responsive juvenile parkinsonism that is consistent with diagnostic criteria for Parkinson's disease is most often caused by mutations in the PARK-Parkin, PARK-PINK1, or PARK-DJ1 genes. However, many other genetic and acquired parkinsonian disorders presenting in …
Levodopa-responsive juvenile parkinsonism that is consistent with diagnostic criteria for Parkinson's disease is most often caused by mutati …
Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Pediatr Nephrol. 2022 Oct;37(10):2289-2302. doi: 10.1007/s00467-022-05505-5. Epub 2022 Mar 29. Pediatr Nephrol. 2022. PMID: 35352187 Free PMC article.
Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO and shown to be superior for treatment of XLH compared to conventional treatment. ...Finally, forms of hypophosphatemic rickets caused by Fanc …
Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO an …
Burosumab for the Treatment of Tumor-Induced Osteomalacia.
Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, Rauch F, Luca D, Cimms T, Roberts MS, San Martin J, Carpenter TO. Jan de Beur SM, et al. J Bone Miner Res. 2021 Apr;36(4):627-635. doi: 10.1002/jbmr.4233. Epub 2021 Jan 12. J Bone Miner Res. 2021. PMID: 33338281 Free PMC article. Clinical Trial.
UX023T-CL201 is an ongoing, open-label, phase 2 study investigating the safety and efficacy of burosumab, a fully human monoclonal antibody that inhibits FGF23, in adults with TIO or cutaneous skeletal hypophosphatemia syndrome (CSHS). Key endpoints were changes in serum p …
UX023T-CL201 is an ongoing, open-label, phase 2 study investigating the safety and efficacy of burosumab, a fully human monoclonal antibody …
Hypophosphatemic Rickets.
Bitzan M, Goodyer PR. Bitzan M, et al. Pediatr Clin North Am. 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004. Pediatr Clin North Am. 2019. PMID: 30454743 Review.
Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems …
Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeut …
Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.
Sinnett SE, Boyle E, Lyons C, Gray SJ. Sinnett SE, et al. Brain. 2021 Nov 29;144(10):3005-3019. doi: 10.1093/brain/awab182. Brain. 2021. PMID: 33950254 Free PMC article.
MECP2 gene transfer has been shown to extend the survival of Mecp2-/y knockout mice modelling Rett syndrome, an X-linked neurodevelopmental disorder. However, controlling deleterious overexpression of MECP2 remains the critical unmet obstacle towards a safe a …
MECP2 gene transfer has been shown to extend the survival of Mecp2-/y knockout mice modelling Rett syndrome, an X-linked …
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. Vairo FPE, et al. Mol Genet Metab. 2019 Jan;126(1):6-13. doi: 10.1016/j.ymgme.2018.12.005. Epub 2018 Dec 11. Mol Genet Metab. 2019. PMID: 30594472
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. ...In conclusion, our guideline can contribute to standardize some aspects of the clinical care of patients with Menkes disease, especially reducing disease bu …
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. ...In conclusion, our guid …
942 results