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Muscle & Nerve. Supplement|January 1, 1995
Genetic defects in patients with glycogenosis type II (acid maltase deficiency)N Raben, R C Nichols, C Boerkoel, et al.
Human Molecular Genetics|July 1, 1996
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)N Raben, R C Nichols, F Martiniuk, et al.
Gene|April 3, 1995
Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extensionR C Nichols, N Raben, C F Boerkoel, et al.
American Journal of Human Genetics|July 1, 1996
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentionsR C Nichols, O Rudolphi, B Ek, et al.
The Journal of Biological Chemistry|October 20, 2000
Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1B Yan, J Heus, N Lu, et al.
American Journal of Human Genetics|April 1, 1995
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIC F Boerkoel, R Exelbert, C Nicastri, et al.
International Journal of Clinical Pharmacology and Therapeutics|December 31, 2009
Autophagy in skeletal muscle: implications for Pompe diseaseL Shea, N Raben
Human Mutation|January 1, 1995
Mutations in muscle phosphofructokinase geneN Raben, J B Sherman
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 6, 2007
Role of autophagy in the pathogenesis of Pompe diseaseN Raben, A Roberts, P H Plotz
Neuromuscular Disorders : NMD|June 6, 2000
Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase geneN Raben, K Nagaraju, E Lee, et al.
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