Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2

Autor: Seehra, Gurpreet, Solomon, Beth, Ryan, Emory, Steward, Alta M, Roshan Lal, Tamanna, Tanima, Yuichiro, Lopez, Grisel, Sidransky, Ellen

Publikováno v: In Molecular Genetics and Metabolism July 2019 127(3):191-199

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Phenotype-based latent class clustering of GBA1 mutation carriers with and without Parkinson disease

Autor: Steward, Alta M., Koehly, Laura, Lindstrom, Taylor, Trivedi, Niraj, Monestime, Gianina, Kim, Jenny, Tayebi, Nahid, Sidransky, Ellen, Lopez, Grisel

Publikováno v: In Molecular Genetics and Metabolism February 2018 123(2):S136-S136

Sibling pairs with Gaucher disease discordant for Parkinsonism

Autor: Steward, Alta M, Monestime, Gianina, Groden, Catherine, Wiggs, Edythe, Tayebi, Nahid, Lal, Tamanna Roshan, Lopez, Grisel, Sidransky, Ellen

Publikováno v: In Molecular Genetics and Metabolism January-February 2017 120(1-2):S127-S128

The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Autor: Roshan Lal T; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Seehra GK; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Steward AM; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Poffenberger CN; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Ryan E; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Tayebi N; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Lopez G; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC., Sidransky E; From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC. sidranse@mail.nih.gov.

Publikováno v: Neurology [Neurology] 2020 Oct 13; Vol. 95 (15), pp. e2119-e2130. Date of Electronic Publication: 2020 Aug 06.