Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Mary E LaMarca

Showing results (1-10 of 13) with videos related to

Pageof 2
Sort By:
Molecular Genetics and Metabolism|November 7, 2006
Therapy for Gaucher disease: don't stop thinking about tomorrowEllen Sidransky, Mary E LaMarca, Edward I Ginns
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
Molecular Genetics and Metabolism|January 20, 2004
Glucocerebrosidase mutations in subjects with parkinsonismAlicia Lwin, Eduard Orvisky, Ozlem Goker-Alpan, et al.
Pediatrics|April 2, 2009
Lysosomal storage disorders in the newbornOrna Staretz-Chacham, Tess C Lang, Mary E LaMarca, et al.
Journal of Human Genetics|March 17, 2004
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher diseaseMary E LaMarca, Mona Goldstein, Nahid Tayebi, et al.
American Journal of Human Genetics|February 15, 2003
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher diseaseNahid Tayebi, Barbara K Stubblefield, Joseph K Park, et al.
Molecular Genetics and Metabolism|September 5, 2002
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotypeEduard Orvisky, Joseph K Park, Mary E LaMarca, et al.
Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.
Combinatorial Chemistry & High Throughput Screening|December 17, 2008
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screeningDaniel J Urban, Wei Zheng, Ozlem Goker-Alpan, et al.
Pediatric Research|February 22, 2003
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park, Eduard Orvisky, Nahid Tayebi, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Molecular Genetics and Metabolism|November 7, 2006
Therapy for Gaucher disease: don't stop thinking about tomorrowEllen Sidransky, Mary E LaMarca, Edward I Ginns
Human Mutation|March 14, 2008
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)Kathleen S Hruska, Mary E LaMarca, C Ronald Scott, et al.
Molecular Genetics and Metabolism|January 20, 2004
Glucocerebrosidase mutations in subjects with parkinsonismAlicia Lwin, Eduard Orvisky, Ozlem Goker-Alpan, et al.
Pediatrics|April 2, 2009
Lysosomal storage disorders in the newbornOrna Staretz-Chacham, Tess C Lang, Mary E LaMarca, et al.
Journal of Human Genetics|March 17, 2004
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher diseaseMary E LaMarca, Mona Goldstein, Nahid Tayebi, et al.
American Journal of Human Genetics|February 15, 2003
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher diseaseNahid Tayebi, Barbara K Stubblefield, Joseph K Park, et al.
Molecular Genetics and Metabolism|September 5, 2002
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotypeEduard Orvisky, Joseph K Park, Mary E LaMarca, et al.
Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.
Combinatorial Chemistry & High Throughput Screening|December 17, 2008
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screeningDaniel J Urban, Wei Zheng, Ozlem Goker-Alpan, et al.
Pediatric Research|February 22, 2003
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park, Eduard Orvisky, Nahid Tayebi, et al.
Pageof 2