Navigation Links
Columbia University Medical Center/NY-Presbyterian experts at AAN
Date:3/18/2013

The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology (AAN), March 16-23, 2013, in San Diego.

For additional information, or to arrange an interview, please contact Karin Eskenazi at 212-342-0508 or ket2116@columbia.edu, or Christina Stolfo at 212-305-5587 or chs9135@nyp.org

ORAL PRESENTATIONS

Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency

Authors: Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, Saba Tadesse, Orhan Akman, Kurenai Tanji, Catarina Quinzii, Michio Hirano

Background/Significance: Autosomal recessive thymidine kinase 2 (TK2) mutations have been associated with severe depletion of mitochondrial DNA (mtDNA) and devastating neuromuscular diseases in infants and children, and with mtDNA multiple deletions and progressive external ophtalmoplegia in adults. Only supportive treatments are available for TK2 deficiency. Using a mouse model of TK2 deficiency, with a phenotype similar to human infantile encephalomyopathy, the researchers demonstrated that oral supplementation with deoxypyrimidine monophosphates is an effective and safe treatment for this disorder. The treatment can potentially be applied to humans.

Session Information: IN1-2.003, Integrated Neuroscience Session: Pediatric Neuromuscular Disease, Data Blitz Session

Presentation Time: Sunday, March 17, 11:40 am

Session Information: S05.005, Muscular Dystrophy and Inherited Myopathy

Presentation Time: Tuesday, March 19, 2:00 pm

Clinical Overview of Parkinson Pathophysiology

Speaker:Stanley Fahn

Background/Significance: Dr. Fahn will review the clinical, pathological, biochemical, imaging, and genetic background of Parkinson disease, as an
'/>"/>

Contact: Karin Eskenazi
ket2116@columbia.edu
212-342-0508
Columbia University Medical Center
Source:Eurekalert

Page: 1 2 3 4 5 6 7 8 9 10 11

Related biology news :

1. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
2. Forensic science used to determine whos who in pre-Columbian Peru
3. Scientists reconstruct pre-Columbian human effects on the Amazon Basin
4. Winemaking goes high-tech at the University of British Columbia
5. Columbia awarded 1 of first Provocative Questions grants from NCI
6. Columbia researchers report novel approach for single molecule electronic DNA sequencing
7. Columbia awards 2012 Naomi Berrie Award to Drs. Christophe Benoist & Diane Mathis
8. EARTH: Famous fossils and spectacular scenery at British Columbias Burgess Shale
9. University of Houston study shows BP oil spill hurt marshes, but recovery possible
10. University of Alberta led research may have discovered how memories are encoded in our brains
11. BGI, University of Helsinki and Wuhan University sign a MOU concerning cooperation on genomics
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/3/2014)... Ariz. , Dec. 2, 2014 As ... hand readers, Inception Technologies is pleased to announce the ... easier for customers to collect the workforce data that ... problems that have been left by existing readers. Many ... user interface, connectivity and modern technology. Older models force ...
(Date:11/21/2014)... Strict laws against distracted driving and the ... American and European automotive sector towards gesture recognition technologies. ... that are intuitive and able to retrieve information with ... New analysis from Frost & Sullivan,s Strategic ... Europe and North America ...
(Date:11/18/2014)... WASHINGTON , Nov. 18, 2014  The ... Security Industry Association today jointly announce the formation ... and release of its Identity and Biometric ... (Framework). The Framework received official support from BORDERPOL, ... governments to improve and provide expertise regarding border ...
Breaking Biology News(10 mins):Inception Technologies to Release New Biometric Reader 2Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 2Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 3Gesture Recognition Intensifies with the Rise of In-car Smartphone Integration, Says Frost & Sullivan 4Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 2Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 3
... The National Science Foundation (NSF) recently awarded $55.5 ... Engineering Research Centers (ERCs) that will advance interdisciplinary ... Over the next five years, these Nanosystems ... innovations that address significant societal issues, such as ...
... more severe in the Southwest, trees are increasingly up ... middle elevations, University of Arizona researchers report in a ... of Geophysical Research Biogeosciences ., Lead author Jeremy Weiss, ... geosciences, said: "We know the climate in the Southwest ...
... human liver-chimeric mouse model developed at Oregon Health & Science ... at Seattle Biomedical Research Institute that will greatly accelerate studies ... The study findings are published online in the Journal ... in "Scientific Show Stoppers" on the JCI blog. ...
Cached Biology News:Engineering research centers awarded $55.5 million to innovate in nanoscale science and engineering 2Engineering research centers awarded $55.5 million to innovate in nanoscale science and engineering 3Droughts are pushing trees to the limit 2Droughts are pushing trees to the limit 3Droughts are pushing trees to the limit 4'Humanized' mice developed at OHSU enable malaria research breakthrough at Seattle BioMed 2'Humanized' mice developed at OHSU enable malaria research breakthrough at Seattle BioMed 3
(Date:12/19/2014)... MA (PRWEB) December 18, 2014 LayerBio ... for ophthalmology and wound care. The National Eye Institute ... awarded LayerBio a Phase I SBIR grant to develop ... Cataracts are the most common cause of vision loss ... of blindness worldwide. According to Dr. Ken Mandell, LayerBio’s ...
(Date:12/19/2014)... 18, 2014 iLab Solutions, the global ... of Siri Bryant as the new Director of Institutional ... Core Implementations. These two new leadership positions were created ... by ensuring that iLab continues to meet the needs ... four years, iLab has been deployed at over 450 ...
(Date:12/19/2014)... San Diego, CA (PRWEB) December 18, 2014 ... announces a limited time special on Sartorius Biohit ... 1 Free on mLINE pipettes, Picus Electronic Pipette Trade-in ... recommended by Health and Safety officers around the world. ... repetitive manual pipetting. Other features include:, , ...
(Date:12/19/2014)...   ISN has released its third annual ... publication series. With data aggregated from over eight ... within its online contractor management platform, ISNetworld, this three-part ... (KPI) statistics. The Contractor ... is available in two industry specific volumes: Oil ...
Breaking Biology Technology:LayerBio Awarded NIH Grant to Develop a Drug Delivery Device for Cataract Surgery 2iLab Solutions Announces Two New Leadership Positions to Meet the Needs of Its Growing Customer Base 2Major Pipette Distributor Pipette.com Announces Sartorius Year End Specials 2ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 2ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 3
... There are many municipalities around the Midwest looking for ... into the traditional approaches of bringing in developers to ... trying to entice businesses with tax incentives and reduced ... , ,This is a common practice with even large ...
... , Wis. - Software piracy ... track it are getting better at cracking down, and violators ... one in five software programs in use in the United ... are increasingly taking measures to protect their assets, primarily through ...
... technology consolidation projects bound to be expensive, problematic, and ... of Wisconsin, has indicated the problems Wisconsin is having ... projects. He has plenty of support on that point, ... implementation delays, and outright failures really inevitable? , ,Christopher ...
Cached Biology Technology:Electronic signs for municipalities: Las Vegas or lost revenues? 2Electronic signs for municipalities: Las Vegas or lost revenues? 3Electronic signs for municipalities: Las Vegas or lost revenues? 4Companies are still taking software license 2Companies are still taking software license 3State IT failures are not inevitable 2State IT failures are not inevitable 3State IT failures are not inevitable 4State IT failures are not inevitable 5
... The RapidPlate 96/384 workstation offers precise ... highly scalable format. Utilizing 100ul and 200ul ... head delivers excellent accuracy and precision across ... position rotary deck includes two positions that ...
... you reduce the chance of error. Thats ... Developed using Beckman Coulters extensive experience in ... technology, the CEQ 8000 is a fully ... fills the capillary array with a patented ...
... The AquaMax DW4 liquid handling system from ... washing all in one instrument. The system ... dispensing and plate washing96-, 384- and 1536-welland ... washing. AquaMax DW4 has been optimized to ...
... Software enables you to identify over ... can distinguish protein isoforms, protein subsets, ... also visualize peptide-protein associations and relationships ... protein identification and relative protein expression ...
Biology Products: