Dlouhy S - Search Results

1

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

Nelson K, Jackman C, Bell J, Shih CS, Payne K, Dlouhy S, Walsh L. Nelson K, et al. Among authors: dlouhy s. J Child Neurol. 2018 Dec;33(14):925-929. doi: 10.1177/0883073818802724. Epub 2018 Oct 12. J Child Neurol. 2018. PMID: 30311510 Free article.

2

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. Feldman HR, et al. Among authors: dlouhy sr. Am J Med Genet A. 2019 Feb;179(2):300-305. doi: 10.1002/ajmg.a.60698. Epub 2018 Dec 14. Am J Med Genet A. 2019. PMID: 30549396

3

Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum.

Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B. Farlow MR, et al. Among authors: dlouhy sr. Neurology. 1989 Nov;39(11):1446-52. doi: 10.1212/wnl.39.11.1446. Neurology. 1989. PMID: 2812321

4

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR. Nance MA, et al. Among authors: dlouhy sr. Neurology. 1996 Nov;47(5):1333-5. doi: 10.1212/wnl.47.5.1333. Neurology. 1996. PMID: 8909455

5

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME. Pratt VM, et al. Among authors: dlouhy sr. Neurology. 1995 Feb;45(2):394-5. doi: 10.1212/wnl.45.2.394. Neurology. 1995. PMID: 7531827 No abstract available.

6

Cerebrospinal fluid levels of amyloid beta-protein precursor are low in Gerstmann-Sträussler-Scheinker disease, Indiana kindred.

Farlow M, Ghetti B, Dlouhy S, Giaccone G, Bugiani O, Tagliavini F, Wagner S. Farlow M, et al. Among authors: dlouhy s. Neurology. 1994 Aug;44(8):1508-10. doi: 10.1212/wnl.44.8.1508. Neurology. 1994. PMID: 8058158

7

Sinus pericranii in achondroplasia: a case report and review of the literature.

Scott AA, Hodge KD, Torres-Martinez W, Dlouhy SR, Smith JL, Weaver DD. Scott AA, et al. Among authors: dlouhy sr. Clin Dysmorphol. 2017 Oct;26(4):252-255. doi: 10.1097/MCD.0000000000000196. Clin Dysmorphol. 2017. PMID: 28872565 Review.

8

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME. Kleindorfer DO, et al. Among authors: dlouhy sr. Am J Med Genet. 1995 Feb 13;55(4):405-7. doi: 10.1002/ajmg.1320550404. Am J Med Genet. 1995. PMID: 7539213

9

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.

Drendel HM, Pike JE, Schumacher K, Ouyang K, Wang J, Stuy M, Dlouhy S, Bai S. Drendel HM, et al. Among authors: dlouhy s. Case Rep Genet. 2015;2015:532090. doi: 10.1155/2015/532090. Epub 2015 Dec 22. Case Rep Genet. 2015. PMID: 26798524 Free PMC article.

10

Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family.

Ghetti B, Tagliavini F, Masters CL, Beyreuther K, Giaccone G, Verga L, Farlow MR, Conneally PM, Dlouhy SR, Azzarelli B, et al. Ghetti B, et al. Among authors: dlouhy sr. Neurology. 1989 Nov;39(11):1453-61. doi: 10.1212/wnl.39.11.1453. Neurology. 1989. PMID: 2573006

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