Zobrazeno 1 - 10
of 36
pro vyhledávání: '"N. Torben Bech-Hansen"'
Autor:
Sarah F. Barclay, Casey M. Rand, Lisa Nguyen, Richard J. A. Wilson, Rachel Wevrick, William T. Gibson, N. Torben Bech-Hansen, Debra E. Weese-Mayer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to
Externí odkaz:
https://doaj.org/article/cedfa14a8280400191ed22d0a4277e67
Publikováno v:
Journal of Alzheimer's Disease Reports
The three common alleles of the APOE gene, ɛ2/ɛ3/ɛ4, have been linked to human spatial orientation. We investigated the genetic role of APOE in developmental topographical disorientation (DTD), a lifelong condition that results in topographical di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bd821c9cf1e0fb08f4527803293682
https://doi.org/10.3233/adr-210304
https://doi.org/10.3233/adr-210304
Autor:
N. Torben Bech-Hansen, Robert L. Chow, Amy S. Lee, Lisa Nguyen, Kenichi Ito, Derek Waldner, Li-Li Chen, William K. Stell, Derrick E. Rancourt, François Tremblay
Publikováno v:
Translational Vision Science & Technology
Purpose Congenital stationary night blindness 2A (CSNB2A) is a genetic retinal disorder characterized by poor visual acuity, nystagmus, strabismus, and other signs of retinal dysfunction resulting from mutations in Cacna1f -the gene coding for the po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846d3020a9ecf1bdb07f42c260723a5f
http://europepmc.org/articles/PMC7571326
http://europepmc.org/articles/PMC7571326
Publikováno v:
Translational Vision Science & Technology
Purpose The posthatching chicken is a valuable animal model for research, but molecular tools needed for altering its gene expression are not yet available. Our purpose here was to adapt the adeno-associated viral (AAV) vector method, used widely in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55dd28a18ef34cd1abeb329b5f8cca1
https://pubmed.ncbi.nlm.nih.gov/31293820
https://pubmed.ncbi.nlm.nih.gov/31293820
Autor:
Kate M. Rancourt, Mary Lou Nicolson, Sarah F. Barclay, Kendra Potocki, N. Torben Bech-Hansen, Ford Burles, Giuseppe Iaria
Publikováno v:
Cognitive Neuropsychology. 33:388-397
A variety of brain lesions may affect the ability to orient, resulting in what is termed "acquired topographical disorientation". In some individuals, however, topographical disorientation is present from childhood, with no apparent brain abnormaliti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c62f057a1190fd9b5c0eb8b8e1791eb0
https://doi.org/10.1080/02643294.2016.1262835
https://doi.org/10.1080/02643294.2016.1262835
Autor:
Darren L. Clark, Ismael Gaxiola-Valdez, Glenda MacQueen, N. Torben Bech-Hansen, Ashley Burgess, Anne Kemp, Rajamannar Ramasubbu, Vaibhav A. Diwadkar, Bradley G. Goodyear, Jane A. Foster, Filomeno Cortese
Publikováno v:
Human Psychopharmacology: Clinical and Experimental. 31:144-155
Objectives Genotype and drug pharmacology may contribute to variations in brain response to antidepressants. We examined the impact of two antidepressants with differential actions on serotonin transporter and the 5-HHTLPR-S/Lg polymorphisms on amygd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb9cd83411fa5ed548b9492540e8202d
https://doi.org/10.1002/hup.2521
https://doi.org/10.1002/hup.2521
Autor:
Richard J. A. Wilson, Sarah F. Barclay, N. Torben Bech-Hansen, Casey M. Rand, Rachel Wevrick, William T. Gibson, Lisa Nguyen, Debra E. Weese-Mayer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5430aa29395db50a3465d7e8bf892971
https://doi.org/10.1186/s13023-018-0860-0
https://doi.org/10.1186/s13023-018-0860-0
Autor:
Richard J. A. Wilson, Ekaterina Rodikova, Elizabeth Berry-Kravis, Debra E. Weese-Mayer, Margaret E. Cooper, Casey M. Rand, N. Torben Bech-Hansen, Karlene T. Barrett, Mary L. Marazita
Publikováno v:
Acta Paediatrica. 102:e546-e552
Aim Stress peptide, pituitary adenylate cyclase-activating polypeptide (PACAP), has been implicated in sudden infant death syndrome (SIDS). The aim of this exploratory study was to determine whether variants in the gene encoding the PACAP-specific re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4470c9145c206bde10a4114f0196f04
https://doi.org/10.1111/apa.12405
https://doi.org/10.1111/apa.12405
Autor:
Kevin J. Cummings, Cherise M. Klotz, Wei Qiao Liu, N. Torben Bech-Hansen, Rose Tobias, Richard J. A. Wilson, Elizabeth Berry-Kravis, Margaret E. Cooper, Debra E. Weese-Mayer, Cameron Goldie, Mary L. Marazita
Publikováno v:
Acta Paediatrica. 98:482-489
Aims: Mice lacking pituitary adenylate cyclase-activating polypeptide (PACAP) are prone to sudden death in the second post-natal week, having respiratory and metabolic disturbances reminiscent of the human Sudden Infant Death Syndrome (SIDS). Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9437b662a857837a03b0794e31159cc2
https://doi.org/10.1111/j.1651-2227.2008.01131.x
https://doi.org/10.1111/j.1651-2227.2008.01131.x
Autor:
Leigh M. Gardner, Alejandro J. Roman, Karen P. Steel, Haydn M. Prosser, Waldo Herrera, Sharon B. Schwartz, David S. Williams, Tomas S. Aleman, Artur V. Cideciyan, Monalisa Mishra, N. Torben Bech-Hansen, Alexander Sumaroka, William J. Kimberling, Samuel G. Jacobson, Xue Zhong Liu
Publikováno v:
Human Molecular Genetics. 17:2405-2415
Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce9799e24908f13a1aad3dbbe635529
https://doi.org/10.1093/hmg/ddn140
https://doi.org/10.1093/hmg/ddn140