Occipital horn syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Occipital horn syndrome" in English language version.

refsWebsite

Global rank English rank

18nih.gov

4^th place

13doi.org

2^nd place

3semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

4,305^th place

1madisonsfoundation.org

low place

1web.archive.org

1^st place

1coronadobiosciences.com

low place

coronadobiosciences.com

ir.coronadobiosciences.com

"Corporate Presentation" (PDF). Cyprium Therapeutics, Inc. October 2017.

doi.org

Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG (November 2006). "Functional copper transport explains neurologic sparing in occipital horn syndrome". Genetics in Medicine. 8 (11): 711–8. doi:10.1097/01.gim.0000245578.94312.1e. PMID 17108763.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, et al. (March 2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy". American Journal of Human Genetics. 86 (3): 343–52. doi:10.1016/j.ajhg.2010.01.027. PMC 2833394. PMID 20170900.
Kodama H, Murata Y, Kobayashi M (August 1999). "Clinical manifestations and treatment of Menkes disease and its variants". Pediatrics International. 41 (4): 423–9. doi:10.1046/j.1442-200x.1999.01095.x. PMID 10453199. S2CID 21267747.
Wakai S, Ishikawa Y, Nagaoka M, Okabe M, Minami R, Hayakawa T (May 1993). "Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case". Journal of the Neurological Sciences. 116 (1): 1–5. doi:10.1016/0022-510x(93)90081-9. PMID 8099605. S2CID 40538663.
Kaler SG (January 2011). "ATP7A-related copper transport diseases-emerging concepts and future trends". Nature Reviews. Neurology. 7 (1): 15–29. doi:10.1038/nrneurol.2010.180. PMC 4214867. PMID 21221114.
Horn N, Tümer Z (2003). "Chapter 14: Menkes Disease and the Occipital Horn Syndrome". In Royce PM, Steinmann B (eds.). Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects (Second ed.). Wiley-Blackwell. pp. 651–685. doi:10.1002/0471221929.ch14. ISBN 978-0-471-25185-9.
Kodama H, Fujisawa C, Bhadhprasit W (March 2011). "Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects". Brain & Development. 33 (3): 243–51. doi:10.1016/j.braindev.2010.10.021. PMID 21112168. S2CID 38032382.
Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (April 2014). "Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon". European Journal of Human Genetics. 22 (4): 517–21. doi:10.1038/ejhg.2013.191. PMC 3953917. PMID 24002164.
Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V (December 2017). "ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype". Molecular Genetics and Metabolism Reports. 13: 14–17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958. PMID 28761814.
Quiroga E, Heneghan R (June 2015). "Abdominal aortic aneurysm in a patient with occipital horn syndrome 2". Journal of Vascular Surgery Cases. 1 (2): 138–140. doi:10.1016/j.jvsc.2015.03.012. PMC 6849971. PMID 31725130.
Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK (October 1996). "Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype". American Journal of Medical Genetics. 65 (1): 44–51. doi:10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y. PMID 8914740.
Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG (December 2011). "ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model". Molecular Therapy. 19 (12): 2114–23. doi:10.1038/mt.2011.143. PMC 3242653. PMID 21878905.

madisonsfoundation.org

Horn Syndrome Archived 2016-10-11 at the Wayback Machine, 9 August 2004.

nih.gov

pubmed.ncbi.nlm.nih.gov

Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG (November 2006). "Functional copper transport explains neurologic sparing in occipital horn syndrome". Genetics in Medicine. 8 (11): 711–8. doi:10.1097/01.gim.0000245578.94312.1e. PMID 17108763.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, et al. (March 2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy". American Journal of Human Genetics. 86 (3): 343–52. doi:10.1016/j.ajhg.2010.01.027. PMC 2833394. PMID 20170900.
Kodama H, Murata Y, Kobayashi M (August 1999). "Clinical manifestations and treatment of Menkes disease and its variants". Pediatrics International. 41 (4): 423–9. doi:10.1046/j.1442-200x.1999.01095.x. PMID 10453199. S2CID 21267747.
Wakai S, Ishikawa Y, Nagaoka M, Okabe M, Minami R, Hayakawa T (May 1993). "Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case". Journal of the Neurological Sciences. 116 (1): 1–5. doi:10.1016/0022-510x(93)90081-9. PMID 8099605. S2CID 40538663.
Kaler SG (January 2011). "ATP7A-related copper transport diseases-emerging concepts and future trends". Nature Reviews. Neurology. 7 (1): 15–29. doi:10.1038/nrneurol.2010.180. PMC 4214867. PMID 21221114.
Kodama H, Fujisawa C, Bhadhprasit W (March 2011). "Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects". Brain & Development. 33 (3): 243–51. doi:10.1016/j.braindev.2010.10.021. PMID 21112168. S2CID 38032382.
Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (April 2014). "Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon". European Journal of Human Genetics. 22 (4): 517–21. doi:10.1038/ejhg.2013.191. PMC 3953917. PMID 24002164.
Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V (December 2017). "ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype". Molecular Genetics and Metabolism Reports. 13: 14–17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958. PMID 28761814.
Quiroga E, Heneghan R (June 2015). "Abdominal aortic aneurysm in a patient with occipital horn syndrome 2". Journal of Vascular Surgery Cases. 1 (2): 138–140. doi:10.1016/j.jvsc.2015.03.012. PMC 6849971. PMID 31725130.
Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK (October 1996). "Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype". American Journal of Medical Genetics. 65 (1): 44–51. doi:10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y. PMID 8914740.
Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG (December 2011). "ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model". Molecular Therapy. 19 (12): 2114–23. doi:10.1038/mt.2011.143. PMC 3242653. PMID 21878905.

ncbi.nlm.nih.gov

Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, et al. (March 2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy". American Journal of Human Genetics. 86 (3): 343–52. doi:10.1016/j.ajhg.2010.01.027. PMC 2833394. PMID 20170900.
Kaler SG (January 2011). "ATP7A-related copper transport diseases-emerging concepts and future trends". Nature Reviews. Neurology. 7 (1): 15–29. doi:10.1038/nrneurol.2010.180. PMC 4214867. PMID 21221114.
Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (April 2014). "Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon". European Journal of Human Genetics. 22 (4): 517–21. doi:10.1038/ejhg.2013.191. PMC 3953917. PMID 24002164.
Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V (December 2017). "ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype". Molecular Genetics and Metabolism Reports. 13: 14–17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958. PMID 28761814.
Quiroga E, Heneghan R (June 2015). "Abdominal aortic aneurysm in a patient with occipital horn syndrome 2". Journal of Vascular Surgery Cases. 1 (2): 138–140. doi:10.1016/j.jvsc.2015.03.012. PMC 6849971. PMID 31725130.
Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG (December 2011). "ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model". Molecular Therapy. 19 (12): 2114–23. doi:10.1038/mt.2011.143. PMC 3242653. PMID 21878905.

omim.org

Online Mendelian Inheritance in Man (OMIM): 304150

semanticscholar.org

api.semanticscholar.org

Kodama H, Murata Y, Kobayashi M (August 1999). "Clinical manifestations and treatment of Menkes disease and its variants". Pediatrics International. 41 (4): 423–9. doi:10.1046/j.1442-200x.1999.01095.x. PMID 10453199. S2CID 21267747.
Wakai S, Ishikawa Y, Nagaoka M, Okabe M, Minami R, Hayakawa T (May 1993). "Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case". Journal of the Neurological Sciences. 116 (1): 1–5. doi:10.1016/0022-510x(93)90081-9. PMID 8099605. S2CID 40538663.
Kodama H, Fujisawa C, Bhadhprasit W (March 2011). "Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects". Brain & Development. 33 (3): 243–51. doi:10.1016/j.braindev.2010.10.021. PMID 21112168. S2CID 38032382.

web.archive.org

Horn Syndrome Archived 2016-10-11 at the Wayback Machine, 9 August 2004.