PMC Articles for MedGen (Select 324619) - PMC

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Items: 12

Select item 98599101.

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Joanna Karolina Purzycka-Olewiecka, Katarzyna Hetmańczyk-Sawicka, Tomasz Kmieć, Dominika Szczęśniak, Joanna Trubicka, Maciej Krawczyński, Maciej Pronicki, Agnieszka Ługowska

Metab Brain Dis. 2023; 38(2): 709–715. Published online 2022 Dec 28. doi: 10.1007/s11011-022-01148-5

PMCID:: PMC9859910

Abstract Article PDF–2.2M

Select item 80958682.

Current State of Clinical and Morphological Features in Human NCL

Hans H Goebel, Krystyna E. Wisniewski

Brain Pathol. 2004 Jan; 14(1): 61–69. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00499.x

PMCID:: PMC8095868

Summary PDF–473K

Select item 74346073.

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano

Mol Genet Genomic Med. 2020 Aug; 8(8): e1308. Published online 2020 May 22. doi: 10.1002/mgg3.1308

PMCID:: PMC7434607

Abstract Article PDF–2.0M

Select item 67728234.

Cathepsin D Deficiency Induces Lysosomal Storage with Ceroid Lipofuscin in Mouse CNS Neurons

Masato Koike, Hiroshi Nakanishi, Paul Saftig, Junji Ezaki, Kyoko Isahara, Yoshiyuki Ohsawa, Walter Schulz-Schaeffer, Tsuyoshi Watanabe, Satoshi Waguri, Satoshi Kametaka, Masahiro Shibata, Kenji Yamamoto, Eiki Kominami, Christoph Peters, Kurt von Figura, Yasuo Uchiyama

J Neurosci. 2000 Sep 15; 20(18): 6898–6906. doi: 10.1523/JNEUROSCI.20-18-06898.2000

PMCID:: PMC6772823

Abstract Article PDF–1.4M

Select item 62012875.

Probing molecular pathways for DNA orientational trapping, unzipping and translocation in nanopores by using a tunable overhang sensor

Yong Wang, Kai Tian, Lehr L. Hunter, Brandon Ritzo, Li-Qun Gu

Nanoscale. Author manuscript; available in PMC 2018 Oct 25.

Published in final edited form as: Nanoscale. 2014 Oct 7; 6(19): 11372–11379. doi: 10.1039/c4nr03195d

PMCID:: PMC6201287

Abstract Article PDF–661K

Select item 54587126.

Diversity and association of phenotypic and metabolomic traits in the close model grasses Brachypodium distachyon, B. stacei and B. hybridum

Diana López-Álvarez, Hassan Zubair, Manfred Beckmann, John Draper, Pilar Catalán

Ann Bot. 2017 Mar; 119(4): 545–561. Published online 2016 Dec 30. doi: 10.1093/aob/mcw239

PMCID:: PMC5458712

Abstract Article PDF–1.0M

Select item 53887307.

The genetic evidence for human origin of Jivaroan shrunken heads in collections from the Polish museums

Danuta Piniewska, Marek Sanak, Marta Wojtas, Nina Polanska

Int J Legal Med. 2017; 131(3): 643–650. Published online 2016 Sep 18. doi: 10.1007/s00414-016-1448-7

PMCID:: PMC5388730

Abstract Article PDF–616K

Select item 46380478.

Proteomic Profiling of Cranial (Superior) Cervical Ganglia Reveals Beta-Amyloid and Ubiquitin Proteasome System Perturbations in an Equine Multiple System Neuropathy

Bruce C. McGorum, R. Scott Pirie, Samantha L. Eaton, John A. Keen, Elizabeth M. Cumyn, Danielle M. Arnott, Wenzhang Chen, Douglas J. Lamont, Laura C. Graham, Maica Llavero Hurtado, Alan Pemberton, Thomas M. Wishart

Mol Cell Proteomics. 2015 Nov; 14(11): 3072–3086. Published online 2015 Sep 13. doi: 10.1074/mcp.M115.054635

PMCID:: PMC4638047

Abstract Article PDF–6.4M

Select item 40877469.

Influences of enteral nutrition combined with probiotics on gut microflora and barrier function of rats with abdominal infection

Tong-Yi Shen, Huan-Long Qin, Zhi-Guang Gao, Xiao-Bing Fan, Xiao-Ming Hang, Yan-Qun Jiang

World J Gastroenterol. 2006 Jul 21; 12(27): 4352–4358. Published online 2006 Jul 21. doi: 10.3748/wjg.v12.i27.4352

PMCID:: PMC4087746

Abstract Article PDF–1.0M

Select item 373390210.

Electron Microscopic, Genetic and Protein Expression Analyses of Helicobacter acinonychis Strains from a Bengal Tiger

Nicole Tegtmeyer, Francisco Rivas Traverso, Manfred Rohde, Omar A. Oyarzabal, Norbert Lehn, Wulf Schneider-Brachert, Richard L. Ferrero, James G. Fox, Douglas E. Berg, Steffen Backert

PLoS One. 2013; 8(8): e71220. Published online 2013 Aug 5. doi: 10.1371/journal.pone.0071220

PMCID:: PMC3733902

Abstract Article PDF–3.2M

Select item 359762711.

Phenotypes and Karyotypes of Human Malignant Mesothelioma Cell Lines

Vandana Relan, Leanne Morrison, Kylie Parsonson, Belinda E. Clarke, Edwina E. Duhig, Morgan N. Windsor, Kevin S. Matar, Rishendran Naidoo, Linda Passmore, Elizabeth McCaul, Deborah Courtney, Ian A. Yang, Kwun M. Fong, Rayleen V. Bowman

PLoS One. 2013; 8(3): e58132. Published online 2013 Mar 14. doi: 10.1371/journal.pone.0058132