Autophagy in skeletal muscle: implications for Pompe disease

od Shea, L., Raben, N.
Izdano 2009

Role of autophagy in the pathogenesis of Pompe disease

od Raben, N, Roberts, A, Plotz, PH
Izdano 2007

Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases.

od Raben, N, Borriello, F, Amin, J, Horwitz, R, Fraser, D, Plotz, P
Izdano 1992

A variety of cytokines and immunologically relevant surface molecules are expressed by normal human skeletal muscle cells under proinflammatory stimuli

od Nagaraju, K, Raben, N, Merritt, G, Loeffler, L, Kirk, K, Plotz, P
Izdano 1998

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

od Nichols, R. C., Rudolphi, O., Ek, B., Exelbert, R., Plotz, P. H., Raben, N.
Izdano 1996

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

od Raben, N, Exelbert, R, Spiegel, R, Sherman, J B, Nakajima, H, Plotz, P, Heinisch, J
Izdano 1995

Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-α-glucosidase

od Amalfitano, A., McVie-Wylie, A. J., Hu, H., Dawson, T. L., Raben, N., Plotz, P., Chen, Y. T.
Izdano 1999

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

od Boerkoel, C F, Exelbert, R, Nicastri, C, Nichols, R C, Miller, F W, Plotz, P H, Raben, N
Izdano 1995

Advancements in AAV-mediated Gene Therapy for Pompe Disease

od Salabarria, S.M., Nair, J., Clement, N., Smith, B.K., Raben, N., Fuller, D.D., Byrne, B.J., Corti, M.
Izdano u J Neuromuscul Dis (2020)

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

od Sherman, J. B., Raben, N., Nicastri, C., Argov, Z., Nakajima, H., Adams, E. M., Eng, C. M., Cowan, T. M., Plotz, P. H.
Izdano 1994

Detection and Imaging of Non-Contractile Inclusions and Sarcomeric Anomalies in Skeletal Muscle by Second Harmonic Generation Combined with Two-Photon Excited Fluorescence

od Ralston, E., Swaim, B., Czapiga, M., Hwu, W.-L., Chien, Y.-H., Pittis, M.G., Bembi, B., Schwartz, O., Plotz, P., Raben, N.
Izdano 2008

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

od Becker, J A, Vlach, J, Raben, N, Nagaraju, K, Adams, E M, Hermans, M M, Reuser, A J, Brooks, S S, Tifft, C J, Hirschhorn, R, Huie, M L, Nicolino, M, Plotz, P H
Izdano 1998

BIOCHEMICAL AND PHARMACOLOGICAL CHARACTERIZATION OF DIFFERENT RECOMBINANT ACID α-GLUCOSIDASE PREPARATIONS EVALUATED FOR THE TREATMENT OF POMPE DISEASE

od McVie-Wylie, A.J., Lee, K.L., Qiu, H., Jin, X., Do, H., Gotschall, R., Thurberg, B.L., Rogers, C., Raben, N., O’Callaghan, M., Canfield, W., Andrews, L., McPherson, J.M., Mattaliano, R.J.
Izdano 2008