Voit T - Search Results

1

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Kano H, et al. Among authors: voit t. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi: 10.1006/bbrc.2002.6608. Biochem Biophys Res Commun. 2002. PMID: 11883957

2

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Taniguchi K, et al. Among authors: voit t. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043. Hum Mol Genet. 2003. PMID: 12588800

3

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Zhang W, et al. Among authors: voit t. Clin Biochem. 2003 Jul;36(5):339-44. doi: 10.1016/s0009-9120(03)00036-5. Clin Biochem. 2003. PMID: 12849864

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. Among authors: voit t. 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. Among authors: voit t. Eur J Pediatr. 1996 Nov;155(11):968-76. doi: 10.1007/BF02282889. Eur J Pediatr. 1996. PMID: 8911899

6

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T. Yoshida A, et al. Among authors: voit t. Dev Cell. 2001 Nov;1(5):717-24. doi: 10.1016/s1534-5807(01)00070-3. Dev Cell. 2001. PMID: 11709191 Free article.

7

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. Among authors: voit t. Hum Mol Genet. 2000 Sep 22;9(15):2335-40. doi: 10.1093/oxfordjournals.hmg.a018926. Hum Mol Genet. 2000. PMID: 11001938

8

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Cormand B, et al. Among authors: voit t. Neurology. 2001 Apr 24;56(8):1059-69. doi: 10.1212/wnl.56.8.1059. Neurology. 2001. PMID: 11320179

9

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: voit t. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124

10

Spatial distribution of beta-spectrin in normal and dystrophic human skeletal muscle.

Ehmer S, Herrmann R, Bittner R, Voit T. Ehmer S, et al. Among authors: voit t. Acta Neuropathol. 1997 Sep;94(3):240-6. doi: 10.1007/s004010050699. Acta Neuropathol. 1997. PMID: 9292693

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