Lupski JR - Search Results

1

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.

Oswiecimska J, Dawidziuk M, Gambin T, Ziora K, Marek M, Rzonca S, Guilbride DL, Jhangiani SN, Obuchowicz A, Sikora A, Lupski JR, Wiszniewski W, Gawlinski P. Oswiecimska J, et al. Among authors: lupski jr. J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):319-326. doi: 10.4274/jcrpe.galenos.2018.2018.0227. Epub 2018 Dec 19. J Clin Res Pediatr Endocrinol. 2019. PMID: 30563316 Free PMC article.

2

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Lupski JR. Lupski JR. Pediatr Res. 1999 Feb;45(2):159-65. doi: 10.1203/00006450-199902000-00001. Pediatr Res. 1999. PMID: 10022584 Review.

3

Evolution of ABCA4 proteins in vertebrates.

Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR. Yatsenko AN, et al. Among authors: lupski jr. J Mol Evol. 2005 Jan;60(1):72-80. doi: 10.1007/s00239-004-0118-4. J Mol Evol. 2005. PMID: 15696369

4

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. Saifi GM, et al. Among authors: lupski jr. Hum Mutat. 2005 Apr;25(4):372-83. doi: 10.1002/humu.20153. Hum Mutat. 2005. PMID: 15776429

5

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Mol Genet. 2005 Oct 1;14(19):2769-78. doi: 10.1093/hmg/ddi310. Epub 2005 Aug 15. Hum Mol Genet. 2005. PMID: 16103129

6

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: lupski jr. Am J Hum Genet. 2005 Nov;77(5):841-50. doi: 10.1086/497541. Epub 2005 Sep 30. Am J Hum Genet. 2005. PMID: 16252242 Free PMC article.

7

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

Wiszniewski W, Lewis RA, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006-0314-y. Epub 2007 Jan 31. Hum Genet. 2007. PMID: 17265047

8

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: lupski jr. Am J Hum Genet. 2007 Sep;81(3):438-53. doi: 10.1086/519926. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701891 Free PMC article.

9

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Szigeti K, et al. Among authors: lupski jr. Neurogenetics. 2007 Nov;8(4):257-62. doi: 10.1007/s10048-007-0094-0. Epub 2007 Aug 24. Neurogenetics. 2007. PMID: 17717711

10

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Wiszniewski W, et al. Among authors: lupski jr. Hum Genet. 2011 Mar;129(3):319-27. doi: 10.1007/s00439-010-0928-y. Epub 2010 Dec 14. Hum Genet. 2011. PMID: 21153841 Free PMC article.

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