Results 81 to 90 of about 2,664 (184)

Canavan disease: a rare form of leukodystrophy

, 2017
Canavan disease (CD) is a rare autosomal recessive leukodystrophy characterized by spongy degeneration of the white matter of brain. It is characterized by accumulation of N-acetyl aspartic (NAA) acid in mitochondria which inhibits myelin synthesis ...
Dogan, Gulec Mert, Sigirci, Ahmet, Ahmet Sigirci, Sığırcı, Ahmet, Gulec Dogan   +4 more
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Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease

, 1996
We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases.
Schutgens, R. B., Simşek, A., Saatçi, I., Jacobs, C., Aktan, G., Topçu, M., Renda, Y., Wanders, R. J., Erdem, G.   +8 more
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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

PLoS Genetics, 2018
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for ...
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly   +59 more
doaj   +1 more source

Greenberg v. Miami Children's Hospital Research Institute

, 2003
Date of Decision: 2003 May 29Court Decision: 264 Federal Supplement, 2d Series 1064; 2003 May 29 (date of decision). Plaintiffs in this case were a group of parents of children afflicted with Canavan disease, who provided tissue for research on the ...
United States. District Court, Southern District of Florida
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Acetate supplementation induces growth arrest of NG2/PDGFRα-positive oligodendroglioma-derived tumor-initiating cells.

PLoS ONE, 2013
Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme ...
Patrick M Long, Scott W Tighe, Heather E Driscoll, John R Moffett, Aryan M A Namboodiri, Mariano S Viapiano, Sean E Lawler, Diane M Jaworski   +7 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

BMC Medical Genomics, 2008
Background It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). Multiplex ligation-dependent probe amplification (
Reichert Jennifer G, Nakamine Alisa, Cohen Ninette, Goldsmith Juliet E, Edelmann Lisa, Cai Guiqing, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D   +13 more
doaj   +1 more source

Novel mutation in an Egyptian patient with infantile Canavan disease.

, 2016
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA.
Zaki, Osama K, Zayed, Hatem, Mohamed, Shaimaa A, El Abd, Heba S   +3 more
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Canavan disease :An automosal recessive leukodistrophy identified at autopsy

, 2007
Canavan hastalığı, beyaz cevherin spongiform dejenerasyonu ile kendini gösteren nadir görülen otosomal çekinik (resesif) bir lökodistrofidir. 17. kromozomun kısa kolunda lokalize bir genin mutasyonunun neden olduğu aspartoasiiaz enzim eksikliğinin bu ...

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Neurosurgical gene therapy for central nervous system diseases

Neurotherapeutics
Viral vector mediated gene therapies for neurodegenerative and neurodevelopmental conditions that require neurosurgical administration continue to expand.
Ruchit V. Patel, Pranav Nanda, R. Mark Richardson   +2 more
doaj   +1 more source

Non-genetic therapeutic approaches to Canavan disease [PDF]

, 2016
Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment of psychomotor development and early death. The molecular cause of CD has been
Elliott, Christina; id_orcid, Roscoe, Rebecca B., Baillie, George S., Zarros, Apostolos, Elliott, Christina   +4 more
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