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Results: 1-11 |
Results: 11
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle inrippling muscle disease
Authors: Betz, RC Schoser, BGH Kasper, D Ricker, K Ramirez, A Stein, V Torbergsen, T Lee, YA Nothen, MM Wienker, TF Malin, JP Propping, P Reis, A Mortier, W Jentsch, TJ Vorgerd, M Kubisch, C
Citation: Rc. Betz et al., Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle inrippling muscle disease, NAT GENET, 28(3), 2001, pp. 218-219
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Authors: Bolz, H von Brederlow, B Ramirez, A Bryda, EC Kutsche, K Nothwang, HG Seeliger, M Cabrera, MDS Vila, MC Molina, OP Gal, A Kubisch, C
Citation: H. Bolz et al., Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D, NAT GENET, 27(1), 2001, pp. 108-112
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family (vol 72, pg 43, 2001)
Authors: Waldegger, S Moschen, I Ramirez, A Smith, RJH Ayadi, H Lang, F Kubisch, C
Citation: S. Waldegger et al., Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family (vol 72, pg 43, 2001), GENOMICS, 77(1-2), 2001, pp. 115-115
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family
Authors: Waldegger, S Moschen, I Ramirez, A Smith, RJH Ayadi, H Lang, F Kubisch, C
Citation: S. Waldegger et al., Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family, GENOMICS, 72(1), 2001, pp. 43-50
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
No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy
Authors: Haug, K Hallmann, K Horvath, S Sander, T Kubisch, C Rau, B Dullinger, J Beyenburg, S Elger, CE Propping, P Heils, A
Citation: K. Haug et al., No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy, EPILEPSY R, 42(1), 2000, pp. 57-62
KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents
Authors: Schroeder, BC Hechenberger, M Weinreich, F Kubisch, C Jentsch, TJ
Citation: Bc. Schroeder et al., KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents, J BIOL CHEM, 275(31), 2000, pp. 24089-24095
Pathophysiology of KCNQ channels: Neonatal epilepsy and progressive deafness
Authors: Jentsch, TJ Schroeder, BC Kubisch, C Friedrich, T Stein, V
Citation: Tj. Jentsch et al., Pathophysiology of KCNQ channels: Neonatal epilepsy and progressive deafness, EPILEPSIA, 41(8), 2000, pp. 1068-1069
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, ismutated in dominant deafness
Authors: Kubisch, C Schroeder, BC Friedrich, T Lutjohann, B El-Amraoui, A Marlin, S Petit, C Jentsch, TJ
Citation: C. Kubisch et al., KCNQ4, a novel potassium channel expressed in sensory outer hair cells, ismutated in dominant deafness, CELL, 96(3), 1999, pp. 437-446
Phenotypic variability in rippling muscle disease
Authors: Vorgerd, M Bolz, H Patzold, T Kubisch, C Malin, JP Mortier, W
Citation: M. Vorgerd et al., Phenotypic variability in rippling muscle disease, NEUROLOGY, 52(7), 1999, pp. 1453-1459
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
Authors: Schroeder, BC Kubisch, C Stein, V Jentsch, TJ
Citation: Bc. Schroeder et al., Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy, NATURE, 396(6712), 1998, pp. 687-690
Risultati: 1-11 |