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Results: 1 to 20 of 102

1.

Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool.

Chakrabarty B, Sharma MC, Gulati S, Kabra M, Pandey RM, Sarkar C.

J Child Neurol. 2014 Apr;29(4):469-74. doi: 10.1177/0883073813482769. Epub 2013 Apr 4.

PMID:
23562947
[PubMed - indexed for MEDLINE]
2.

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z, Vojtísková M, Fajkusová L, Bednarík J, Kadanka Z, Hájek J, Hermanová M, Vohánka S, Vytopil M.

Cesk Patol. 2001 Nov;37(4):137-45. Czech.

PMID:
11813630
[PubMed - indexed for MEDLINE]
3.

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

Pegoraro E, Schimke RN, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg MR, Carroll JE, Taber JW, Wessel HB, et al.

Am J Hum Genet. 1994 Jun;54(6):989-1003.

PMID:
8198142
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Electroretinogram in Duchenne/Becker muscular dystrophy.

Pascual Pascual SI, Molano J, Pascual-Castroviejo I.

Pediatr Neurol. 1998 Apr;18(4):315-20.

PMID:
9588526
[PubMed - indexed for MEDLINE]
5.

Diagnosis of dystrophinopathy by skin biopsy.

Niiyama T, Higuchi I, Sakoda S, Matsumura T, Fukunaga H, Osame M.

Muscle Nerve. 2002 Mar;25(3):398-401.

PMID:
11870717
[PubMed - indexed for MEDLINE]
6.

The frequency of patients with dystrophin abnormalities in a limb-girdle patient population.

Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K.

Neurology. 1991 Sep;41(9):1491-6.

PMID:
1842672
[PubMed - indexed for MEDLINE]
7.

Diagnostic utility of skin biopsy in dystrophinopathies.

Tanveer N, Sharma MC, Sarkar C, Gulati S, Kalra V, Singh S, Bhatia R.

Clin Neurol Neurosurg. 2009 Jul;111(6):496-502. doi: 10.1016/j.clineuro.2009.01.011. Epub 2009 Feb 28.

PMID:
19251360
[PubMed - indexed for MEDLINE]
8.

Dystrophinopathies: clarification and complication.

Samaha FJ, Quinlan JG.

J Child Neurol. 1996 Jan;11(1):13-20. Review.

PMID:
8745379
[PubMed - indexed for MEDLINE]
9.

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy.

Na SJ, Kim WJ, Kim SM, Lee KO, Yoon B, Choi YC.

J Clin Neurosci. 2013 Aug;20(8):1099-105. doi: 10.1016/j.jocn.2012.09.021. Epub 2013 Jun 18.

PMID:
23790620
[PubMed - indexed for MEDLINE]
10.

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.

Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D.

Ann Neurol. 1997 Aug;42(2):249-53.

PMID:
9266737
[PubMed - indexed for MEDLINE]
11.

Asymptomatic dystrophinopathy.

Morrone A, Zammarchi E, Scacheri PC, Donati MA, Hoop RC, Servidei S, Galluzzi G, Hoffman EP.

Am J Med Genet. 1997 Mar 31;69(3):261-7.

PMID:
9096754
[PubMed - indexed for MEDLINE]
12.

Prevalence and incidence of Becker muscular dystrophy.

Bushby KM, Thambyayah M, Gardner-Medwin D.

Lancet. 1991 Apr 27;337(8748):1022-4.

PMID:
1673177
[PubMed - indexed for MEDLINE]
13.

Dystrophin and DNA diagnosis in a large pediatric muscle clinic.

Richards S, Iannaccone ST.

J Child Neurol. 1994 Apr;9(2):162-6.

PMID:
8006367
[PubMed - indexed for MEDLINE]
14.

[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies].

Kozłowska M, Bushby K, Bisko M, Zimowski J, Badurska B.

Neurol Neurochir Pol. 1994;28(1 Suppl 1):115-24. Polish.

PMID:
8065538
[PubMed - indexed for MEDLINE]
15.

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

Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F.

Pediatr Neurol. 1992 Nov-Dec;8(6):432-6.

PMID:
1476571
[PubMed - indexed for MEDLINE]
16.

[Gene deletion analysis in molecular diagnosis of Duchenne-Becker muscular dystrophy].

Endreffy E, László A, Kálmán M, Krenács T, Raskó I.

Orv Hetil. 1994 Feb 20;135(8):399-403. Review. Hungarian.

PMID:
8139842
[PubMed - indexed for MEDLINE]
17.

Skin Biopsy: A New Tool to Diagnose Sarcoglycanopathy.

Chakrabarty B, Sharma MC, Gulati S, Kabra M, Pandey RM, Sarkar C.

J Child Neurol. 2013 May 16;29(8):NP5-NP8. [Epub ahead of print]

PMID:
23680947
[PubMed - as supplied by publisher]
18.

Dystrophinopathy in isolated female patients with muscular dystrophy.

Serdaroglu A, Kotiloglu E, Caglar M, Topaloglu H.

Pediatr Pathol Lab Med. 1996 May-Jun;16(3):393-402.

PMID:
9025841
[PubMed - indexed for MEDLINE]
19.

[Muscle biopsy in children: Usefulness in 2012].

Cuisset JM, Maurage CA, Carpentier A, Briand G, Thévenon A, Rouaix N, Vallée L.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):632-9. doi: 10.1016/j.neurol.2012.11.011. Epub 2013 Aug 28. French.

PMID:
23993361
[PubMed - indexed for MEDLINE]
20.

Symptomatic carriers of muscular dystrophy.

Azam M.

J Pak Med Assoc. 1997 Mar;47(3):89-93.

PMID:
9131861
[PubMed - indexed for MEDLINE]
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