Voit T - Search Results

1

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T. Cirak S, et al. Among authors: voit t. Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16. Brain. 2010. PMID: 20554658 Free PMC article.

2

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

3

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F. Jungbluth H, et al. Among authors: voit t. Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2. Neurology. 2005. PMID: 16380615

4

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Zacharias U, Schulz-Menger J, Spuler A, Yaou RB, Nürnberg P, Voit T, Bonne G, Spuler S. Knoblauch H, et al. Among authors: voit t. Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839. Ann Neurol. 2010. PMID: 20186852

5

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Voit T, et al. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161

6

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.

Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. Straussberg R, et al. Among authors: voit t. Neurology. 2005 Jan 11;64(1):142-4. doi: 10.1212/01.WNL.0000148600.60470.E6. Neurology. 2005. PMID: 15642921

7

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F. Mercuri E, et al. Among authors: voit t. Neuropediatrics. 2004 Aug;35(4):224-9. doi: 10.1055/s-2004-821084. Neuropediatrics. 2004. PMID: 15328561

8

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S. Lommel M, et al. Among authors: voit t. Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6. Neurology. 2010. PMID: 20065251

9

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: voit t. Neurology. 1998 Jul;51(1):94-100. doi: 10.1212/wnl.51.1.94. Neurology. 1998. PMID: 9674785

10

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel HH, Bönnemann CG. Schessl J, et al. Among authors: voit t. Neuropediatrics. 2010 Feb;41(1):43-6. doi: 10.1055/s-0030-1254101. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571991

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