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Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.

Ralston E, Swaim B, Czapiga M, Hwu WL, Chien YH, Pittis MG, Bembi B, Schwartz O, Plotz P, Raben N.

J Struct Biol. 2008 Jun;162(3):500-8. doi: 10.1016/j.jsb.2008.03.010. Epub 2008 Apr 8.


Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.

Raben N, Ralston E, Chien YH, Baum R, Schreiner C, Hwu WL, Zaal KJ, Plotz PH.

Mol Genet Metab. 2010 Dec;101(4):324-31. doi: 10.1016/j.ymgme.2010.08.001. Epub 2010 Aug 7.


Characterization of the myosin-based source for second-harmonic generation from muscle sarcomeres.

Plotnikov SV, Millard AC, Campagnola PJ, Mohler WA.

Biophys J. 2006 Jan 15;90(2):693-703. Epub 2005 Oct 28.


Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.

Raben N, Wong A, Ralston E, Myerowitz R.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):13-21. doi: 10.1002/ajmg.c.31317. Epub 2012 Jan 17. Review.


The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.

Acta Neuropathol Commun. 2014 Jan 2;2:2. doi: 10.1186/2051-5960-2-2.


Second harmonic imaging of intrinsic signals in muscle fibers in situ.

Both M, Vogel M, Friedrich O, von Wegner F, Künsting T, Fink RH, Uttenweiler D.

J Biomed Opt. 2004 Sep-Oct;9(5):882-92.


Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S42-7. Review.


Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.

Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A.

Gene Ther. 2004 Nov;11(21):1590-8.


Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.

Takikita S, Schreiner C, Baum R, Xie T, Ralston E, Plotz PH, Raben N.

PLoS One. 2010 Dec 13;5(12):e15239. doi: 10.1371/journal.pone.0015239.


Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.


Autophagy and lysosomes in Pompe disease.

Fukuda T, Roberts A, Ahearn M, Zaal K, Ralston E, Plotz PH, Raben N.

Autophagy. 2006 Oct-Dec;2(4):318-20. Epub 2006 Oct 5.


Determination of the source of SHG verniers in zebrafish skeletal muscle.

Dempsey WP, Hodas NO, Ponti A, Pantazis P.

Sci Rep. 2015 Dec 11;5:18119. doi: 10.1038/srep18119.


Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.

Orphanet J Rare Dis. 2013 Jun 20;8:90. doi: 10.1186/1750-1172-8-90.


Double-band sarcomeric SHG pattern induced by adult skeletal muscles alteration during myofibrils preparation.

Recher G, Rouède D, Tascon C, D'Amico LA, Tiaho F.

J Microsc. 2011 Feb;241(2):207-11. doi: 10.1111/j.1365-2818.2010.03425.x. Epub 2010 Aug 26.


Glycogenosome accumulation in the arrector pili muscle in Pompe disease.

Katona I, Weis J, Hanisch F.

Orphanet J Rare Dis. 2014 Feb 5;9:17. doi: 10.1186/1750-1172-9-17.


Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.

Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH.

Mol Genet Metab. 2009 Apr;96(4):208-17. doi: 10.1016/j.ymgme.2008.12.012. Epub 2009 Jan 22.


Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture.

Griffin JL.

Virchows Arch B Cell Pathol Incl Mol Pathol. 1984;45(1):23-36.


Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, Page L, Kishnani PS, Schoser BG, Chien YH, Ralston E, Nagaraju K, Plotz PH.

Autophagy. 2007 Nov-Dec;3(6):546-52. Epub 2007 Jun 15.


Quantitative evaluation of skeletal muscle defects in second harmonic generation images.

Liu W, Raben N, Ralston E.

J Biomed Opt. 2013 Feb;18(2):26005. doi: 10.1117/1.JBO.18.2.026005.


Effects of non-contractile inclusions on mechanical performance of skeletal muscle.

Drost MR, Hesselink RP, Oomens CW, van der Vusse GJ.

J Biomech. 2005 May;38(5):1035-43.


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