PMC Links for Nucleotide (Select 1394533277) - PMC - NCBI

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Items: 4

Select item 57160371.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Maria A. Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H. Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M. Maier, Yoshinao Wada, Stefanie Jäger, Nevan J. Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D. Bird, Wendy H. Raskind, Michael Schwake, Sandrine Duvet, Francois Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons

J Exp Med. 2017 Dec 4; 214(12): 3707–3729. doi: 10.1084/jem.20170453

PMCID:: PMC5716037

Abstract Article PDF–3.8M

Select item 29289702.

Impaired Autophagy in Sporadic Inclusion-Body Myositis and in Endoplasmic Reticulum Stress-Provoked Cultured Human Muscle Fibers

Anna Nogalska, Carla D'Agostino, Chiara Terracciano, W. King Engel, Valerie Askanas

Am J Pathol. 2010 Sep; 177(3): 1377–1387. doi: 10.2353/ajpath.2010.100050

PMCID:: PMC2928970

Abstract Article PDF–1.0M

Select item 27314913.

VMA21 Deficiency: A Case of Myocyte Indigestion

Michio Hirano, Salvatore DiMauro

Cell. Author manuscript; available in PMC 2009 Aug 25.

Published in final edited form as: Cell. 2009 Apr 17; 137(2): 213–215. doi: 10.1016/j.cell.2009.04.005

PMCID:: PMC2731491

Abstract Article PDF–650K

Select item 17153304.

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

P Saviranta, M Lindlöf, A E Lehesjoki, H Kalimo, H Lang, V Sonninen, M L Savontaus, A de la Chapelle

Am J Hum Genet. 1988 Jan; 42(1): 84–88.

PMCID:: PMC1715330

Summary Page Browse PDF–742K

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