Specht LA - Search Results

1

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.

2

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM. Beggs AH, et al. Am J Hum Genet. 1991 Jul;49(1):54-67. Am J Hum Genet. 1991. PMID: 2063877 Free PMC article.

3

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

4

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

5

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

6

Spinal fusion in Duchenne muscular dystrophy: a multidisciplinary approach.

Shapiro F, Sethna N, Colan S, Wohl ME, Specht L. Shapiro F, et al. Muscle Nerve. 1992 May;15(5):604-14. doi: 10.1002/mus.880150512. Muscle Nerve. 1992. PMID: 1584253

7

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

8

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al. Hoffman EP, et al. N Engl J Med. 1988 May 26;318(21):1363-8. doi: 10.1056/NEJM198805263182104. N Engl J Med. 1988. PMID: 3285207

9

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

10

Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture.

Sklar RM, Beggs AH, Lev AA, Specht L, Shapiro F, Brown RH Jr. Sklar RM, et al. Neurology. 1990 Dec;40(12):1854-8. doi: 10.1212/wnl.40.12.1854. Neurology. 1990. PMID: 1701042

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