Raben N - Search Results

1

Helios gene gun particle delivery for therapy of acid maltase deficiency.

Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P, Rom WN. Martiniuk F, et al. Among authors: raben n. DNA Cell Biol. 2002 Oct;21(10):717-25. doi: 10.1089/104454902760599690. DNA Cell Biol. 2002. PMID: 12443541

2

Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.

Martiniuk F, Chen A, Donnabella V, Arvanitopoulos E, Slonim AE, Raben N, Plotz P, Rom WN. Martiniuk F, et al. Among authors: raben n. Biochem Biophys Res Commun. 2000 Oct 5;276(3):917-23. doi: 10.1006/bbrc.2000.3555. Biochem Biophys Res Commun. 2000. PMID: 11027569 Free article.

3

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Raben N, Plotz P, Byrne BJ. Raben N, et al. Curr Mol Med. 2002 Mar;2(2):145-66. doi: 10.2174/1566524024605789. Curr Mol Med. 2002. PMID: 11949932 Review.

4

Acid alpha-glucosidase deficiency (Pompe disease).

Fukuda T, Roberts A, Plotz PH, Raben N. Fukuda T, et al. Among authors: raben n. Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. doi: 10.1007/s11910-007-0024-4. Curr Neurol Neurosci Rep. 2007. PMID: 17217857 Review.

5

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.

6

Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.

Yan B, Raben N, Lu N, Plotz PH. Yan B, et al. Among authors: raben n. Hum Genet. 2001 Aug;109(2):186-90. doi: 10.1007/s004390100562. Hum Genet. 2001. PMID: 11511924

7

Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells.

Yan B, Raben N, Plotz PH. Yan B, et al. Among authors: raben n. Biochem Biophys Res Commun. 2002 Mar 1;291(3):582-7. doi: 10.1006/bbrc.2002.6483. Biochem Biophys Res Commun. 2002. PMID: 11855828

8

Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.

Raben N, Nagaraju K, Lee E, Plotz P. Raben N, et al. Neuromuscul Disord. 2000 Jun;10(4-5):283-91. doi: 10.1016/s0960-8966(99)00117-0. Neuromuscul Disord. 2000. PMID: 10838256

9

The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway.

Yan B, Raben N, Plotz P. Yan B, et al. Among authors: raben n. J Biol Chem. 2002 Aug 16;277(33):29760-4. doi: 10.1074/jbc.M204721200. Epub 2002 Jun 13. J Biol Chem. 2002. PMID: 12065598 Free article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

138 results

Search Page

Filters