Specht LA - Search Results

Year	Number of Results
1978	1
1980	2
1981	3
1991	1
1992	1
1993	1
1994	1
1996	2
1997	2
2013	1
2016	1
2024	0

1

Eteplirsen for the treatment of Duchenne muscular dystrophy.

Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group. Mendell JR, et al. Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10. Ann Neurol. 2013. PMID: 23907995 Free article. Clinical Trial.

2

Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy.

Geifman-Holtzman O, Bernstein IM, Capeless EL, Hawley P, Specht LA, Bianchi DW. Geifman-Holtzman O, et al. Among authors: specht la. Am J Med Genet. 1997 Dec 19;73(3):276-8. doi: 10.1002/(sici)1096-8628(19971219)73:3<276::aid-ajmg9>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9415684 Review.

3

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.

Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group and Telethon Foundation DMD Italian Network. Mendell JR, et al. Ann Neurol. 2016 Feb;79(2):257-71. doi: 10.1002/ana.24555. Epub 2016 Jan 8. Ann Neurol. 2016. PMID: 26573217 Free PMC article. Clinical Trial.

4

Childhood onset oculopharyngeal muscular dystrophy.

Lacomis D, Kupsky WJ, Kuban KK, Specht LA. Lacomis D, et al. Among authors: specht la. Pediatr Neurol. 1991 Sep-Oct;7(5):382-4. doi: 10.1016/0887-8994(91)90071-r. Pediatr Neurol. 1991. PMID: 1764143

5

Catecholamine biosynthetic enzymes are expressed in replicating cells of the peripheral but not the central nervous system.

Rothman TP, Specht LA, Gershon MD, Joh TH, Teitelman G, Pickel VM, Reis DJ. Rothman TP, et al. Among authors: specht la. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6221-5. doi: 10.1073/pnas.77.10.6221. Proc Natl Acad Sci U S A. 1980. PMID: 6108565 Free PMC article.

6

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.

Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F. Specht LA, et al. Pediatr Neurol. 1992 Nov-Dec;8(6):432-6. doi: 10.1016/0887-8994(92)90004-i. Pediatr Neurol. 1992. PMID: 1476571

7

Congenital muscular dystrophy associated with merosin deficiency.

North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. North KN, et al. Among authors: specht la. J Child Neurol. 1996 Jul;11(4):291-5. doi: 10.1177/088307389601100406. J Child Neurol. 1996. PMID: 8807418

8

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Engle EC, Kunkel LM, Specht LA, Beggs AH. Engle EC, et al. Among authors: specht la. Nat Genet. 1994 May;7(1):69-73. doi: 10.1038/ng0594-69. Nat Genet. 1994. PMID: 8075644

9

The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.

Khurana TS, Specht LA, Beggs AH, Tomé FM, Letureq F, Chevallay M, Chafey P, Kunkel LM. Khurana TS, et al. Among authors: specht la. Biochem Biophys Res Commun. 1997 Dec 18;241(2):232-5. doi: 10.1006/bbrc.1997.7799. Biochem Biophys Res Commun. 1997. PMID: 9425255

10

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.

North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, Smith TW, Beggs AH, Specht LA. North KN, et al. Among authors: specht la. Neurology. 1996 Feb;46(2):461-5. doi: 10.1212/wnl.46.2.461. Neurology. 1996. PMID: 8614513

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