Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Amanda Singleton"'
Autor:
Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Meth
Externí odkaz:
https://doaj.org/article/fe013e7e4ed249f6a19b18adfd360c6a
Autor:
Mohammad Yahya Vahidi Mehrjardi, Corrie E. Erasmus, Alexander Asamoah, Mohammadreza Dehghani, Cyril Mignot, Diane Doummar, Laurie L. Molday, Hugh J. McMillan, Reza Maroofian, Lea Velsher, Islay Thompson, John Christodoulou, Michel Tchan, Cas Simons, Amanda Singleton, Maria J. Guillen Sacoto, Francis C. Lynn, Daniel A Lelli, Charlotte A. Haaxma, Elena Martín-Hernández, Megan T. Cho, Grace Yoon, Lindsay B. Henderson, Aida Telegrafi, Robert S. Molday, Julie Griffin, Tuula Rinne, Boris Keren, Heather M. McLaughlin, David A. Koolen
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13, 1, pp. 86
Orphanet Journal of Rare Diseases, 13, 86
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet Journal of Rare Diseases, 13, 1, pp. 86
Orphanet Journal of Rare Diseases, 13, 86
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Methods An ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdca046973e042217567cfcb3777d3c
http://europepmc.org/articles/PMC6048855
http://europepmc.org/articles/PMC6048855
Autor:
Sara Knapke, Jane Juusola, Leah Williams, Bethany Friedman, Elizabeth Butler, Rachel T. Klein, Amanda Singleton, Rachel Nusbaum, Courtney Sebold, Kirsty McWalter, Rebecca Willaert, Tara Hart, Megan T. Cho
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 178(1)
The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016. In addition, industry genetic counselors are expanding their roles, taking on new responsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0d94a997cd7f84e8af8ff050594854
https://pubmed.ncbi.nlm.nih.gov/29675991
https://pubmed.ncbi.nlm.nih.gov/29675991
Publikováno v:
Journal of Genetic Counseling. 21:433-439
An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1baca2a4e43f97767c5f746f062ace9d
https://doi.org/10.1007/s10897-011-9474-6
https://doi.org/10.1007/s10897-011-9474-6
Autor:
Tuula Rinne, M. T. Cho, Boris Keren, Reza Maroofian, Michel Tchan, Heather M. McLaughlin, John Christodoulou, Mohammadreza Dehghani, Grace Yoon, Elena Martín-Hernández, Laurie L. Molday, David A. Koolen, Lindsay B. Henderson, Cas Simons, Diane Doummar, Aida Telegrafi, Charlotte A. Haaxma, M Vahidi Mehrjardi, Francis C. Lynn, Amanda Singleton, Alexander Asamoah, Julie Griffin, Daniel A Lelli, Corrie E. Erasmus, Hugh J. McMillan, Lea Velsher, Cyril Mignot, MJ Guillen Sacoto, I Thompson, Robert S. Molday
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 45:S12-S12
Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::845c843878b6f919c98ad7705453fe8b
https://doi.org/10.1017/cjn.2018.90
https://doi.org/10.1017/cjn.2018.90
Autor:
Chris Godlove, Amanda Singleton
Publikováno v:
Distributed Generation & Alternative Energy Journal. :52-65
Stakeholders promoting landfill gas (LFG) energy projects are iden-tifying new funding incentives to implement LFG energy (LFGE) proj-ects. This article focuses on how landfills are participating in voluntarycarbon and renewable energy markets, and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6f08ae78129d76fd7e76965107306b2
https://doi.org/10.13052/dgaej2156-3306.2525
https://doi.org/10.13052/dgaej2156-3306.2525
Autor:
Grisel Lopez, David S. Goldstein, Clive Holmes, Mark Hallett, Richard Imrich, Elizabeth Peckham, Amanda Singleton, John Hardy, C. Crews
Publikováno v:
Neurology. 69:1580-1584
BACKGROUND: Patients with Parkinson disease (PD) often have cardiac sympathetic denervation and failure of neurocirculatory regulation by baroreflexes. Familial PD caused by mutation of the gene encoding alpha-synuclein or by alpha-synuclein gene tri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::562378a4a1ad41606a4ad8f199f13f69
https://doi.org/10.1212/01.wnl.0000268696.57912.64
https://doi.org/10.1212/01.wnl.0000268696.57912.64
Autor:
T. Kawarai, Anthony E. Lang, T. Al-Khairallah, Christine Sato, G. K. Fisman, Shabnam Salehi-Rad, Coro Paisán-Ruiz, Ekaterina Rogaeva, P. St. George-Hyslop, Amanda Singleton
Publikováno v:
Neurology. 65:696-700
Background: In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have recently been identified in families with autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f6711fd2f9ecbf3dc164118d7e2f30
https://doi.org/10.1212/01.wnl.0000167552.79769.b3
https://doi.org/10.1212/01.wnl.0000167552.79769.b3
Autor:
Jose L. Hernandez, Virgilio Gerald H. Evidente, John Hardy, Raymund P. Esteban, Katrina Gwinn-Hardy, Joel Advincula, Filipinas F. Natividad, Andrew B. Singleton, Amanda Singleton
Publikováno v:
Parkinsonism & Related Disorders. 10:407-410
We administered a culturally corrected University of Pennsylvania Smell Identification Test (ccUPSIT) consisting of 25 odor items to 20 patients with ‘Lubag’ or X-linked dystonia-parkinsonism and 20 control subjects matched by sex, age, education
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e65ba580d379e87a643e5eab94379b
https://doi.org/10.1016/j.parkreldis.2004.04.011
https://doi.org/10.1016/j.parkreldis.2004.04.011
Autor:
Raghuveer Dendi, Andrew B. Singleton, Katrina Gwinn-Hardy, David S. Goldstein, Anthony Crawley, John Hardy, Amanda Singleton, Yehonotan Sharabi, Courtney Holmes, Sheng-Ting Li
Publikováno v:
Brain. 127:768-772
Parkinson's disease patients frequently have symptoms and signs of autonomic nervous dysfunction that are the source of considerable disability. Recent studies have revealed that most patients with Parkinson's disease, and all with Parkinson's diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b30bb41e9572bff6aa023787ed3bad42
https://doi.org/10.1093/brain/awh081
https://doi.org/10.1093/brain/awh081