Recommended Readings: Anna Wedell, M.D., Ph.D., Friday November 2, 2018

Recommended Readings: Anna Wedell, M.D., Ph.D., Friday November 2, 2018

 

Friday Lectures

Friday, November 2, 2018  3:45 p.m.

Caspary Auditorium

Anna Wedell, M.D., Ph.D.

Professor

Department of Molecular Medicine and Surgery

Karolinska Institute

Sheds Light on Novel Metabolic Pathways in the Brain

Recommended Readings:

Empirical Articles

Baric, Ivo; Staufner, Christian; Augoustides-Savvopoulou, Persephone; et al. (2017). Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. JOURNAL OF INHERITED METABOLIC DISEASE. 40 (1): 5-20

Siibak, Triinu; Clemente, Paula; Bratic, Ana; et al. (2017). A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.  26 (13): 2515-2525

Dahlin, Maria; Martin, Daniel A.; Hedlund, Zandra; et al. (2015). The ketogenic diet compensates for AGC1 deficiency and improves myelination. EPILEPSIA. 56 (11): e176-e181

Brownstein, Catherine A.; Beggs, Alan H.; Homer, Nils; et al. (2014). An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. GENOME BIOLOGY. (15) 3

Stranneheim, Henrik; Engvall, Martin; Naess, Karin; et al. (2014). Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC GENOMICS. 15

Gidlof, Sebastian; Falhammar, Henrik; Thilen, Astrid; et al. (2013). One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. LANCET DIABETES & ENDOCRINOLOGY. 1 (1): 35-42

Bjursell, Magnus K.; Blom, Henk J.; Cayuela, Jordi Asin; et al. (2011). Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function. AMERICAN JOURNAL OF HUMAN GENETICS. 89 (4): 507-515

Wibom, Rolf; Lasorsa, Francesco M.; Tohonen, Virpi; et al. (2009). AGC1 Deficiency Associated with Global Cerebral Hypomyelination.  NEW ENGLAND JOURNAL OF MEDICINE. 361 (5): 489-495

FacebookTwitterGoogle+

By |2019-08-02T18:54:50+00:00October 25th, 2018|Categories: Friday Lectures, Genetics, Metabolism, Molecular Medicine, Recommended Readings|Tags: , , , , , |Comments Off on Recommended Readings: Anna Wedell, M.D., Ph.D., Friday November 2, 2018

About the Author:

Ilaria Ceglia, Ph.D., Science Informationist - Ilaria joined the Markus Library Team in 2017. As science liaison between the Rockefeller scientific community and the library, Ilaria assists Rockefeller scientists find, and effectively use, the scholarly communication tools available at the library, provides customized literature searching, delivers research information reports and publications metric analysis to enhance collaborations between Rockefeller and leading scientific institutions, provides access to digital content to manage large data freely accessible. Ilaria manages a drug development database to perform clinical literature searches and drugs pipeline reports for Rockefeller research faculty, scientists and clinicians. As the NIH compliance monitor for the Rockefeller University, Ilaria helps faculty to solve scientific submission requirements issues and ensures Rockefeller remains compliant with NIH Public Access Policy. Her role also includes evaluate and select new databases to complement other resource center services, organize tutorial training sessions in areas of life sciences and on the use of reference management platforms F1000 Workspace, Scopus, Web of Science and PubMed literature searching, managing recommendation readings library blog for lectures and special seminars. Ilaria is a neuroscientist and a former Rockefeller postdoctoral and research associate of Dr. Paul Greengard’s laboratory. She was a Research Assistant Professor at the Icahn School of Medicine at Mount Sinai, New York and an Adjunct Assistant Professor at City College and Hunter College in New York, where she taught Cell Biology and Biochemistry. As an Italian expat living in New York, Ilaria is an enthusiastic proponent of Italian culture among friends and colleagues.