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Links from Nucleotide

Items: 6

1.
Pure hereditary spastic paraplegia due to a de-novo mutation in the NIPA1 gene
David Arkadir, Anne Noreau, Jill S. Goldman, Guy A. Rouleau, Roy N. Alcalay
Eur J Neurol. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Eur J Neurol. 2014; 21(1): e2. Published online 2013 Dec 10. doi: 10.1111/ene.12284
PMCID:
PMC4138605
ArticlePDF–64K
2.
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.
J K Fink, C T Wu, S M Jones, G B Sharp, B M Lange, A Lesicki, T Reinglass, T Varvil, B Otterud, M Leppert
Am J Hum Genet. 1995 Jan; 56(1): 188–192.
PMCID:
PMC1801321
SummaryPage BrowsePDF–775K
3.
Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons
J-H. Chai, D. P. Locke, J. M. Greally, J. H. M. Knoll, T. Ohta, J. Dunai, A. Yavor, E. E. Eichler, R. D. Nicholls
Am J Hum Genet. 2003 Oct; 73(4): 898–925. Published online 2003 Sep 23. doi: 10.1086/378816
PMCID:
PMC1180611
AbstractArticlePDF–1.6M
4.
Analysis of mRNA With Microsomal Fractionation Using a SAGE-Based DNA Microarray System Facilitates Identification of the Genes Encoding Secretory Proteins
Nobuaki Toyoda , Shigenori Nagai, Yuya Terashima, Kazushi Motomura, Makoto Haino, Shin-ichi Hashimoto, Hajime Takizawa, Kouji Matsushima
Genome Res. 2003 Jul; 13(7): 1728–1736. doi: 10.1101/gr.709603
PMCID:
PMC403746
AbstractArticlePDF–631K
5.
Direct Detection of Alternative Open Reading Frames Translation Products in Human Significantly Expands the Proteome
Benoît Vanderperre, Jean-François Lucier, Cyntia Bissonnette, Julie Motard, Guillaume Tremblay, Solène Vanderperre, Maxence Wisztorski, Michel Salzet, François-Michel Boisvert, Xavier Roucou
PLoS One. 2013; 8(8): e70698. Published online 2013 Aug 12. doi: 10.1371/journal.pone.0070698
PMCID:
PMC3741303
AbstractArticlePDF–1.5M
6.
Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies
G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro
Acta Myol. 2010 Jul; 29(1): 1–20.
PMCID:
PMC2954584
AbstractArticlePDF–699K

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