PMC Links for Nucleotide (Select 1677501108) - PMC

Select item 66941321.

HENA, heterogeneous network-based data set for Alzheimer’s disease

Elena Sügis, Jerome Dauvillier, Anna Leontjeva, Priit Adler, Valerie Hindie, Thomas Moncion, Vincent Collura, Rachel Daudin, Yann Loe-Mie, Yann Herault, Jean-Charles Lambert, Henning Hermjakob, Tal Pupko, Jean-Christophe Rain, Ioannis Xenarios, Jaak Vilo, Michel Simonneau, Hedi Peterson

Sci Data. 2019; 6: 151. Published online 2019 Aug 14. doi: 10.1038/s41597-019-0152-0

PMCID:: PMC6694132

Abstract Article PDF–2.8M

Select item 64111222.

Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer

Anne Ackermann, Christopher Schrecker, Dimitra Bon, Nicolaus Friedrichs, Katrin Bankov, Peter Wild, Guido Plotz, Stefan Zeuzem, Eva Herrmann, Martin-Leo Hansmann, Angela Brieger

PLoS One. 2019; 14(3): e0213411. Published online 2019 Mar 11. doi: 10.1371/journal.pone.0213411

PMCID:: PMC6411122

Abstract Article PDF–4.8M

Select item 11510743.

Site specificity in the interactions of synapsin 1 with tubulin.

A F Bennett, N V Hayes, A J Baines

Biochem J. 1991 Jun 15; 276(Pt 3): 793–799. doi: 10.1042/bj2760793

PMCID:: PMC1151074

Summary Page Browse PDF–1.8M

Select item 11500824.

Interaction domains of neurofilament light chain and brain spectrin.

T Frappier, F Stetzkowski-Marden, L A Pradel

Biochem J. 1991 Apr 15; 275(Pt 2): 521–527. doi: 10.1042/bj2750521

PMCID:: PMC1150082

Summary Page Browse PDF–2.7M

Select item 3630705.

Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species.

T L Leto, D Fortugno-Erikson, D Barton, T L Yang-Feng, U Francke, A S Harris, J S Morrow, V T Marchesi, E J Benz, Jr

Mol Cell Biol. 1988 Jan; 8(1): 1–9. doi: 10.1128/mcb.8.1.1

PMCID:: PMC363070

Summary Page Browse PDF–1.2M

Select item 62484096.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini

Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195

PMCID:: PMC6248409

Abstract Article PDF–741K

Select item 48174047.

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Justus L. Groen, Arturo Andrade, Katja Ritz, Hamid Jalalzadeh, Martin Haagmans, Ted E.J. Bradley, Aldo Jongejan, Dineke S. Verbeek, Peter Nürnberg, Sylvia Denome, Raoul C.M. Hennekam, Diane Lipscombe, Frank Baas, Marina A.J. Tijssen

Hum Mol Genet. 2015 Feb 15; 24(4): 987–993. Published online 2014 Oct 8. doi: 10.1093/hmg/ddu513

PMCID:: PMC4817404

Abstract Article PDF–494K

Select item 30320588.

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

Am J Hum Genet. 2010 Jun 11; 86(6): 881–891. doi: 10.1016/j.ajhg.2010.04.013

PMCID:: PMC3032058

Abstract Article PDF–1.5M

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