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Results: 1-25 | 26-32
Results: 1-25/32
Autosomal dominant transmission of GLUT1 deficiency
Authors: Klepper, J Willemsen, M Verrips, A Guertsen, E Herrmann, R Kutzick, C Florcken, A Voit, T
Citation: J. Klepper et al., Autosomal dominant transmission of GLUT1 deficiency, HUM MOL GEN, 10(1), 2001, pp. 63-68
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus
Authors: Voit, T Kutz, P Leube, B Neuen-Jacob, E Schroder, JM Cavallotti, D Vaccario, ML Schaper, J Broich, P Cohn, R Baethmann, M Gohlich-Ratmann, G Scoppetta, C Herrmann, R
Citation: T. Voit et al., Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus, NEUROMUSC D, 11(1), 2001, pp. 11-19
beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
Authors: Moolenaar, SH Gohlich-Ratmann, G Engelke, UFH Spraul, M Humpfer, E Dvortsak, P Voit, T Hoffmann, GF Brautigam, C van Kuilenburg, AB van Gennip, A Vreken, P Wevers, RA
Citation: Sh. Moolenaar et al., beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine, MAGN RES M, 46(5), 2001, pp. 1014-1017
Hypoglycorrhachia: a simple clue, simply missed
Authors: Willemsen, MAAP Verrips, A Verbeek, MM Voit, T Klepper, S
Citation: Maap. Willemsen et al., Hypoglycorrhachia: a simple clue, simply missed, ANN NEUROL, 49(5), 2001, pp. 685-686
Morphogenesis of primary human biliary epithelial cells: Induction in high-density culture or by coculture with autologous human hepatocytes
Authors: Auth, MKH Joplin, RE Okamoto, M Ishida, Y McMaster, P Neuberger, JM Blaheta, RA Voit, T Strain, AJ
Citation: Mkh. Auth et al., Morphogenesis of primary human biliary epithelial cells: Induction in high-density culture or by coculture with autologous human hepatocytes, HEPATOLOGY, 33(3), 2001, pp. 519-529
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: Amixed congenital myopathy
Authors: Goebel, HH Halbig, LE Goldfarb, L Schober, R Albani, M Neuen-Jacob, E Voit, T
Citation: Hh. Goebel et al., Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: Amixed congenital myopathy, NEUROPEDIAT, 32(4), 2001, pp. 196-205
Sleep-disordered breathing and respiratory failure in acid maltase deficiency
Authors: Mellies, U Ragette, R Schwake, C Baethmann, M Voit, T Teschler, H
Citation: U. Mellies et al., Sleep-disordered breathing and respiratory failure in acid maltase deficiency, NEUROLOGY, 57(7), 2001, pp. 1290-1295
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
Authors: Cormand, B Pihko, H Bayes, 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
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
Secondary calpain3 deficiency in 2q-linked muscular dystrophy - Titin is the candidate gene
Authors: Haravuori, H Vihola, A Straub, V Auranen, M Richard, I Marchand, S Voit, T Labeit, S Somer, H Peltonen, L Beckmann, JS Udd, B
Citation: H. Haravuori et al., Secondary calpain3 deficiency in 2q-linked muscular dystrophy - Titin is the candidate gene, NEUROLOGY, 56(7), 2001, pp. 869-877
Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
Authors: Klepper, J Monden, I Guertsen, E Voit, T Willemsen, M Keller, K
Citation: J. Klepper et al., Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene, FEBS LETTER, 498(1), 2001, pp. 104-109
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan
Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F
Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
Authors: Herrmann, R Straub, V Blank, M Kutzick, C Franke, N Jacob, EN Lenard, HG Kroger, S Voit, T
Citation: R. Herrmann et al., Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy, HUM MOL GEN, 9(15), 2000, pp. 2335-2340
Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis
Authors: Kornak, U Schulz, A Friedrich, W Uhlhaas, S Kremens, B Voit, T Hasan, C Bode, U Jentsch, TJ Kubisch, C
Citation: U. Kornak et al., Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis, HUM MOL GEN, 9(13), 2000, pp. 2059-2063
Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
Authors: Chandler, D Angelicheva, D Heather, L Gooding, R Gresham, D Yanakiev, P de Jonge, R Baas, F Dye, D Karagyozov, L Savov, A Blechschmidt, K Keats, B Thomas, PK King, RHM Starr, A Nikolova, A Colomer, J Ishpekova, B Tournev, I Urtizberea, JA Merlini, L Butinar, D Chabrol, B Voit, T Baethmann, M Nedkova, V Corches, A Kalaydjieva, L
Citation: D. Chandler et al., Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries, NEUROMUSC D, 10(8), 2000, pp. 584-591
Untitled
Authors: Voit, T
Citation: T. Voit, Untitled, NEUROPEDIAT, 31(6), 2000, pp. 281-281
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolatereductase deficiency
Authors: Baethmann, M Wendel, U Hoffmann, GF Gohlich-Ratmann, G Kleinlein, B Seiffert, P Blom, H Voit, T
Citation: M. Baethmann et al., Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolatereductase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 314-317
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?
Authors: Gohlich-Ratmann, G Lackner, A Schaper, J Voit, T Gillessen-Kaesbach, G
Citation: G. Gohlich-ratmann et al., Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?, AM J MED G, 95(3), 2000, pp. 241-246
Focal myopathy induced by chronic heroin injection is reversible
Authors: Weber, M Diener, HC Voit, T Neuen-Jacob, E
Citation: M. Weber et al., Focal myopathy induced by chronic heroin injection is reversible, MUSCLE NERV, 23(2), 2000, pp. 274-277
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
Authors: Franz, WM Muller, M Muller, OJ Herrmann, R Rothmann, T Cremer, M Cohn, RD Voit, T Katus, HA
Citation: Wm. Franz et al., Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy, LANCET, 355(9217), 2000, pp. 1781-1785
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
Authors: Merlini, L Kaplan, JC Navarro, C Barois, A Bonneau, D Brasa, J Echenne, B Gallano, P Jarre, L Jeanpierre, M Kalaydjieva, L Leturcq, F Levi-Gomes, A Toutain, A Tournev, I Urtizberea, A Vallat, JM Voit, T Warter, JM
Citation: L. Merlini et al., Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation, NEUROLOGY, 54(5), 2000, pp. 1075-1079
Congenital defects of glucose transport
Authors: Klepper, J Santer, R Baethmann, M De Vivo, DC Voit, T
Citation: J. Klepper et al., Congenital defects of glucose transport, MONATS KIND, 148(1), 2000, pp. 2-11
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
Authors: Budde, SMS van den Heuvel, LPWJ Janssen, AJ Smeets, RJP Buskens, CAF DeMeirleir, L Van Coster, R Baethmann, M Voit, T Trijbels, JMF Smeitink, JAM
Citation: Sms. Budde et al., Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene, BIOC BIOP R, 275(1), 2000, pp. 63-68
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Authors: di Barletta, MR Ricci, E Galluzzi, G Tonali, P Mora, M Morandi, L Romorini, A Voit, T Orstavik, KH Merlini, L Trevisan, C Biancalana, V Housmanowa-Petrusewicz, I Bione, S Ricotti, R Schwartz, K Bonne, G Toniolo, D
Citation: Mr. Di Barletta et al., Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy, AM J HU GEN, 66(4), 2000, pp. 1407-1412
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
Authors: Brockington, M Sewry, CA Herrmann, R Naom, I Dearlove, A Rhodes, M Topaloglu, H Dubowitz, V Voit, T Muntoni, F
Citation: M. Brockington et al., Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42, AM J HU GEN, 66(2), 2000, pp. 428-435
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