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Results: 1 to 20 of 124

1.

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF.

Muscle Nerve. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076.

PMID:
21674528
[PubMed - indexed for MEDLINE]
2.
3.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H.

Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10.

PMID:
20624679
[PubMed - indexed for MEDLINE]
4.

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J.

J Invest Dermatol. 2000 Feb;114(2):381-7.

PMID:
10652002
[PubMed - indexed for MEDLINE]
Free Article
5.

Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.

Takizawa Y, Shimizu H, Rouan F, Kawai M, Udono M, Pulkkinen L, Nishikawa T, Uitto J.

J Invest Dermatol. 1999 Jan;112(1):109-12.

PMID:
9886273
[PubMed - indexed for MEDLINE]
Free Article
6.

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T.

J Am Acad Dermatol. 1999 Dec;41(6):950-6. Review.

PMID:
10570379
[PubMed - indexed for MEDLINE]
7.

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H.

Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330.

PMID:
20665883
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF.

J Invest Dermatol. 2010 Apr;130(4):1178-81. doi: 10.1038/jid.2009.390. Epub 2009 Dec 17. No abstract available.

PMID:
20016501
[PubMed - indexed for MEDLINE]
Free Article
9.

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J.

Genes Dev. 1996 Jul 15;10(14):1724-35.

PMID:
8698233
[PubMed - indexed for MEDLINE]
Free Article
10.

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J.

Hum Mol Genet. 1996 Oct;5(10):1539-46.

PMID:
8894687
[PubMed - indexed for MEDLINE]
Free Article
11.

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy.

Uitto J, Pulkkinen L, Smith FJ, McLean WH.

Exp Dermatol. 1996 Oct;5(5):237-46. Review.

PMID:
8981021
[PubMed - indexed for MEDLINE]
12.

Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.

Auringer DE, Simon JW, Meyer DR, Malone A.

Ophthal Plast Reconstr Surg. 2010 Nov-Dec;26(6):488-9. doi: 10.1097/IOP.0b013e3181e2f984.

PMID:
20829732
[PubMed - indexed for MEDLINE]
13.

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

Charlesworth A, Gagnoux-Palacios L, Bonduelle M, Ortonne JP, De Raeve L, Meneguzzi G.

J Invest Dermatol. 2003 Dec;121(6):1344-8.

PMID:
14675180
[PubMed - indexed for MEDLINE]
Free Article
14.

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Pfendner E, Rouan F, Uitto J.

Exp Dermatol. 2005 Apr;14(4):241-9. Review.

PMID:
15810881
[PubMed - indexed for MEDLINE]
15.

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.

Koss-Harnes D, Høyheim B, Jonkman MF, de Groot WP, de Weerdt CJ, Nikolic B, Wiche G, Gedde-Dahl T Jr.

Acta Derm Venereol. 2004;84(2):124-31.

PMID:
15206692
[PubMed - indexed for MEDLINE]
16.

Epidermolysis bullosa simplex with muscular dystrophy.

Chiavérini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP.

Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001. Review.

PMID:
20447487
[PubMed - indexed for MEDLINE]
17.

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.

Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB.

Nat Genet. 1996 Aug;13(4):450-7.

PMID:
8696340
[PubMed - indexed for MEDLINE]
18.

Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.

Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M.

Arch Dermatol. 1988 Apr;124(4):551-4.

PMID:
3355199
[PubMed - indexed for MEDLINE]
19.

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.

Kunz M, Rouan F, Pulkkinen L, Hamm H, Jeschke R, Bruckner-Tuderman L, Bröcker EB, Wiche G, Uitto J, Zillikens D.

J Invest Dermatol. 2000 Feb;114(2):376-80.

PMID:
10652001
[PubMed - indexed for MEDLINE]
Free Article
20.

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.

Takahashi Y, Rouan F, Uitto J, Ishida-Yamamoto A, Iizuka H, Owaribe K, Tanigawa M, Ishii N, Yasumoto S, Hashimoto T.

J Dermatol Sci. 2005 Feb;37(2):87-93. Epub 2004 Dec 22.

PMID:
15659326
[PubMed - indexed for MEDLINE]
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