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Results 1 - 10 of 898  for Great Falls College MSU

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1
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases
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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

Gómez-Grau, Marta ; Garrido, Elena ; Cozar, Mónica ; Rodriguez-Sureda, Víctor ; Domínguez, Carmen ; Arenas, Concepción ; Gatti, Richard A ; Cormand, Bru ; Grinberg, Daniel ; Vilageliu, Lluïsa Dardis, Andrea

PloS one, 2015, Vol.10 (8), p.e0135873 [Peer Reviewed Journal]

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2
Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
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Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Lin, Na ; Zhang, Huiwen ; Qiu, Wenjuan ; Ye, Jun ; Han, Lianshu ; Wang, Yu ; Gu, Xuefan

Journal of lipid research, 2014-02, Vol.55 (2), p.338-343 [Peer Reviewed Journal]

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3
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Wassif, Christopher A ; Cross, Joanna L ; Iben, James ; Sanchez-Pulido, Luis ; Cougnoux, Antony ; Platt, Frances M ; Ory, Daniel S ; Ponting, Chris P ; Bailey-Wilson, Joan E ; Biesecker, Leslie G ; Porter, Forbes D

Genetics in medicine, 2015-03-12, Vol.18 (1), p.41-48 [Peer Reviewed Journal]

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4
Connecting Hsp70, sphingolipid metabolism and lysosomal stability
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Connecting Hsp70, sphingolipid metabolism and lysosomal stability

Petersen, Nikolaj H.T ; Kirkegaard, Thomas ; Olsen, Ole Dines ; Jäättelä, Marja

Cell cycle (Georgetown, Tex.), 2014-10-28, Vol.9 (12), p.2305-2309 [Peer Reviewed Journal]

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5
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Zampieri, Stefania ; Filocamo, Mirella ; Pianta, Annalisa ; Lualdi, Susanna ; Gort, Laura ; Coll, Maria Jose ; Sinnott, Richard ; Geberhiwot, Tarekegn ; Bembi, Bruno ; Dardis, Andrea

Human mutation, 2016-02, Vol.37 (2), p.139-147 [Peer Reviewed Journal]

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6
Improvement in Lipid and Protein Trafficking in Niemann‐Pick C1 Cells by Correction of a Secondary Enzyme Defect
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Improvement in Lipid and Protein Trafficking in Niemann‐Pick C1 Cells by Correction of a Secondary Enzyme Defect

Devlin, Cecilia ; Pipalia, Nina H ; Liao, Xianghai ; Schuchman, Edward H ; Maxfield, Frederick R ; Tabas, Ira

Traffic (Copenhagen, Denmark), 2010-05, Vol.11 (5), p.601-615

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7
The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study
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The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study

Wasserstein, Melissa P ; Desnick, Robert J ; Schuchman, Edward H ; Hossain, Sabera ; Wallenstein, Sylvan ; Lamm, Carin ; McGovern, Margaret M

Pediatrics, 2004-12-01, Vol.114 (6), p.e672-e677 [Peer Reviewed Journal]

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8
A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis
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A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis

Xun Huang ; Kaye Suyama ; JoAnn Buchanan ; Alan J. Zhu ; Matthew P. Scott

Development, 2005-11-15, Vol.132 (22), p.5115-5124 [Peer Reviewed Journal]

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9
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
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The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease

Schuchman, E H

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.654-663 [Peer Reviewed Journal]

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10
Emerging roles for lipids in non-apoptotic cell death
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Emerging roles for lipids in non-apoptotic cell death

Magtanong, L ; Ko, P J ; Dixon, S J

Cell death and differentiation, 2016-03-11, Vol.23 (7), p.1099-1109 [Peer Reviewed Journal]

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Results 1 - 10 of 898  for Great Falls College MSU

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