Herrmann R - Search Results

1

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: herrmann r. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828

2

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Brockington M, et al. Among authors: herrmann r. Am J Hum Genet. 2000 Feb;66(2):428-35. doi: 10.1086/302775. Am J Hum Genet. 2000. PMID: 10677302 Free PMC article.

3

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kröger S, Voit T. Herrmann R, et al. Hum Mol Genet. 2000 Sep 22;9(15):2335-40. doi: 10.1093/oxfordjournals.hmg.a018926. Hum Mol Genet. 2000. PMID: 11001938

4

Costameric distribution of beta-dystroglycan (43 kDa dystrophin-associated glycoprotein) in normal and dystrophin-deficient human skeletal muscle.

Herrmann R, Anderson LV, Voit T. Herrmann R, et al. Biochem Soc Trans. 1996 May;24(2):501-6. doi: 10.1042/bst0240501. Biochem Soc Trans. 1996. PMID: 8736792 Review. No abstract available.

5

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. Herrmann R, et al. Eur J Pediatr. 1996 Nov;155(11):968-76. doi: 10.1007/BF02282889. Eur J Pediatr. 1996. PMID: 8911899

6

Changes of laminin beta 2 chain expression in congenital muscular dystrophy.

Cohn RD, Herrmann R, Wewer UM, Voit T. Cohn RD, et al. Among authors: herrmann r. Neuromuscul Disord. 1997 Sep;7(6-7):373-8. doi: 10.1016/s0960-8966(97)00072-2. Neuromuscul Disord. 1997. PMID: 9327401

7

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Beltran-Valero de Bernabé D, et al. Among authors: herrmann r. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. J Med Genet. 2004. PMID: 15121789 Free PMC article. No abstract available.

8

Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.

Cohn RD, Herrmann R, Sorokin L, Wewer UM, Voit T. Cohn RD, et al. Among authors: herrmann r. Neurology. 1998 Jul;51(1):94-100. doi: 10.1212/wnl.51.1.94. Neurology. 1998. PMID: 9674785

9

Autosomal dominant transmission of GLUT1 deficiency.

Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, Flörcken A, Voit T. Klepper J, et al. Among authors: herrmann r. Hum Mol Genet. 2001 Jan 1;10(1):63-8. doi: 10.1093/hmg/10.1.63. Hum Mol Genet. 2001. PMID: 11136715

10

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

Voit T, Parano E, Straub V, Schröder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R. Voit T, et al. Among authors: herrmann r. Neuromuscul Disord. 2002 Oct;12(7-8):623-30. doi: 10.1016/s0960-8966(02)00018-4. Neuromuscul Disord. 2002. PMID: 12207929

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