Raben N - Search Results

1

Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.

Fraites TJ Jr, Schleissing MR, Shanely RA, Walter GA, Cloutier DA, Zolotukhin I, Pauly DF, Raben N, Plotz PH, Powers SK, Kessler PD, Byrne BJ. Fraites TJ Jr, et al. Among authors: raben n. Mol Ther. 2002 May;5(5 Pt 1):571-8. doi: 10.1006/mthe.2002.0580. Mol Ther. 2002. PMID: 11991748 Free article.

2

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Raben N, Nichols RC, Boerkoel C, Plotz P. Raben N, et al. Muscle Nerve Suppl. 1995;3:S70-4. doi: 10.1002/mus.880181415. Muscle Nerve Suppl. 1995. PMID: 7603531 Review.

3

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

Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N. Boerkoel CF, et al. Among authors: raben n. Am J Hum Genet. 1995 Apr;56(4):887-97. Am J Hum Genet. 1995. PMID: 7717400 Free PMC article.

4

Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension.

Nichols RC, Raben N, Boerkoel CF, Plotz PH. Nichols RC, et al. Among authors: raben n. Gene. 1995 Apr 3;155(2):299-304. doi: 10.1016/0378-1119(94)00634-5. Gene. 1995. PMID: 7721108

5

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

Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N. Nichols RC, et al. Among authors: raben n. Am J Hum Genet. 1996 Jul;59(1):59-65. Am J Hum Genet. 1996. PMID: 8659544 Free PMC article.

6

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

Raben N, Nichols RC, Martiniuk F, Plotz PH. Raben N, et al. Hum Mol Genet. 1996 Jul;5(7):995-1000. doi: 10.1093/hmg/5.7.995. Hum Mol Genet. 1996. PMID: 8817337

7

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.

Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N. Adams EM, et al. Among authors: raben n. Hum Mutat. 1997;10(2):128-34. doi: 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G. Hum Mutat. 1997. PMID: 9259196

8

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.

Raben N, Nagaraju K, Lee E, Kessler P, Byrne B, Lee L, LaMarca M, King C, Ward J, Sauer B, Plotz P. Raben N, et al. J Biol Chem. 1998 Jul 24;273(30):19086-92. doi: 10.1074/jbc.273.30.19086. J Biol Chem. 1998. PMID: 9668092 Free article.

9

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH. Raben N, et al. Hum Mutat. 1999;13(1):83-4. doi: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2. Hum Mutat. 1999. PMID: 10189220

10

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

Amalfitano A, McVie-Wylie AJ, Hu H, Dawson TL, Raben N, Plotz P, Chen YT. Amalfitano A, et al. Among authors: raben n. Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):8861-6. doi: 10.1073/pnas.96.16.8861. Proc Natl Acad Sci U S A. 1999. PMID: 10430861 Free PMC article.

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