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Items: 1 to 20 of 160

1.

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
2.

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.

3.

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G.

Br J Dermatol. 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202.

PMID:
23289980
4.

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
5.

Plectin-related skin diseases.

Natsuga K.

J Dermatol Sci. 2015 Mar;77(3):139-45. doi: 10.1016/j.jdermsci.2014.11.005. Epub 2014 Nov 28. Review.

PMID:
25530118
6.

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
7.

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Gostyńska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castañón MJ, Wiche G, Jonkman MF.

Hum Mol Genet. 2015 Jun 1;24(11):3155-62. doi: 10.1093/hmg/ddv066. Epub 2015 Feb 24.

PMID:
25712130
8.

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
9.

Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.

Yin J, Ren Y, Lin Z, Wang H, Zhou Y, Yang Y.

Int J Dermatol. 2015 Feb;54(2):185-7. doi: 10.1111/ijd.12655. Epub 2014 Sep 10.

PMID:
25209331
10.

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L, Wiche G.

Acta Neuropathol. 2013 Jan;125(1):77-93. doi: 10.1007/s00401-012-1026-0. Epub 2012 Aug 3. Review.

PMID:
22864774
11.

Epidermolysis bullosa simplex.

Coulombe PA, Fuchs E.

Semin Dermatol. 1993 Sep;12(3):173-90. Review.

PMID:
7692916
12.

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).

Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H.

J Mol Diagn. 2005 Feb;7(1):28-35.

13.

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

Sørensen CB, Andresen BS, Jensen UB, Jensen TG, Jensen PK, Gregersen N, Bolund L.

Exp Dermatol. 2003 Aug;12(4):472-9. Erratum in: Exp Dermatol. 2004 Jul;13(7):462.

PMID:
12930305
14.

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RA, Shimizu H.

Muscle Nerve. 2007 Jan;35(1):24-35.

PMID:
16967486
15.

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G.

J Clin Invest. 1996 Nov 15;98(10):2196-200.

16.

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse T, Jensen PK, Eiberg H, Bolund L, Gregersen N.

Ugeskr Laeger. 2000 Mar 27;162(13):1873-6. Danish.

PMID:
10765693
17.

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H.

Int J Dermatol. 2011 Apr;50(4):439-42. doi: 10.1111/j.1365-4632.2010.04771.x.

PMID:
21413955
18.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E.

Arch Dermatol. 2003 Apr;139(4):498-505. Erratum in: Arch Dermatol. 2003 Aug;139(8):1084.

PMID:
12707098
19.

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
20.

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

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