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Results: 1-17 |
Results: 17
EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - Second of two parts
Authors: Gasser, T Dichgans, M Finsterer, J Hausmanowa-Petrusewicz, I Jurkat-Rott, K Klopstock, T Leguern, E Lehesjoki, AE Lehmann-Horn, F Lynch, T Morris, H Rossor, M Steinlein, OK Wood, N Zaremba, J Zeviani, M Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - Second of two parts, EUR J NEUR, 8(5), 2001, pp. 407-424
EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts
Authors: Gasser, T Dichgans, M Finsterer, J Hausmanowa-Petrusewicz, I Jurkat-Rott, K Klopstock, T LeGuern, E Lehesjoki, AE Lehmann-Horn, F Lynch, T Morris, H Rossor, M Steinlein, OK Wood, N Zaremba, J Zeviani, M Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts, EUR J NEUR, 8(4), 2001, pp. 299-314
Mitochondrial disorders
Authors: Zeviani, M Klopstock, T
Citation: M. Zeviani et T. Klopstock, Mitochondrial disorders, CURR OP NEU, 14(5), 2001, pp. 553-560
Polyradiculopathy in the course of superficial siderosis of the CNS
Authors: Straube, A Dudel, C Wekerle, G Klopstock, T
Citation: A. Straube et al., Polyradiculopathy in the course of superficial siderosis of the CNS, J NEUROL, 248(1), 2001, pp. 63-64
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Authors: Jaksch, M Kleinle, S Scharfe, C Klopstock, T Pongratz, D Muller-Hocker, J Gerbitz, KD Liechti-Gallati, S Lochmuller, H Horvath, R
Citation: M. Jaksch et al., Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies, J MED GENET, 38(10), 2001, pp. 665-673
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
Authors: de Angelis, MH Flaswinkel, H Fuchs, H Rathkolb, B Soewarto, D Marschall, S Heffner, S Pargent, W Wuensch, K Jung, M Reis, A Richter, T Alessandrini, F Jakob, T Fuchs, E Kolb, H Kremmer, E Schaeble, K Rollinski, B Roscher, A Peters, C Meitinger, T Strom, T Steckler, T Holsboer, F Klopstock, T Gekeler, F Schindewolf, C Jung, T Avraham, K Behrendt, H Ring, J Zimmer, A Schughart, K Pfeffer, K Wolf, E Balling, R
Citation: Mh. De Angelis et al., Genome-wide, large-scale production of mutant mice by ENU mutagenesis, NAT GENET, 25(4), 2000, pp. 444-447
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
Authors: Borner, GV Zeviani, M Tiranti, V Carrara, F Hoffmann, S Gerbitz, KD Lochmuller, H Pongratz, D Klopstock, T Melberg, A Holme, E Paabo, S
Citation: Gv. Borner et al., Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients, HUM MOL GEN, 9(4), 2000, pp. 467-475
The POEMS Syndrome
Authors: Schriever, S Froschmayr, S Klopstock, T
Citation: S. Schriever et al., The POEMS Syndrome, OPHTHALMOLO, 97(1), 2000, pp. 64-65
MITOP, the mitochondrial proteome database: 2000 update
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Dembowski, M Lill, R Prokisch, H Gerbitz, KD Neupert, W Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP, the mitochondrial proteome database: 2000 update, NUCL ACID R, 28(1), 2000, pp. 155-158
A placebo-controlled crossover trial of creatine in mitochondrial diseases
Authors: Klopstock, T Querner, V Schmidt, F Gekeler, F Walter, M Hartard, M Hennig, M Gasser, T Pongratz, D Straube, A Dieterich, M Muller-Felber, W
Citation: T. Klopstock et al., A placebo-controlled crossover trial of creatine in mitochondrial diseases, NEUROLOGY, 55(11), 2000, pp. 1748-1751
Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study
Authors: Walter, MC Lochmuller, H Reilich, P Klopstock, T Huber, R Hartard, M Hennig, M Pongratz, D Muller-Felber, W
Citation: Mc. Walter et al., Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study, NEUROLOGY, 54(9), 2000, pp. 1848-1850
Molecular diagnosis of hereditary neurological diseases. A position paper
Authors: Gasser, T Dichgans, M Jurkat-Rott, K Klockgether, T Klopstock, T Kretzschmar, H Lehmann-Horn, F Reichmann, H Rolfs, A Sander, T Stogbauer, F
Citation: T. Gasser et al., Molecular diagnosis of hereditary neurological diseases. A position paper, NERVENARZT, 71(10), 2000, pp. 774-796
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Authors: Scharfe, C Hauschild, M Klopstock, T Janssen, AJM Heidemann, PH Meitinger, T Jaksch, M
Citation: C. Scharfe et al., A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I, J MED GENET, 37(9), 2000, pp. 669-673
MITOP: database for mitochondria-related proteins, genes and diseases
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Lill, R Prokisch, H Gerbitz, KD Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP: database for mitochondria-related proteins, genes and diseases, NUCL ACID R, 27(1), 1999, pp. 153-155
Age and cause of death in mitochondrial diseases
Authors: Klopstock, T Jaksch, M Gasser, T
Citation: T. Klopstock et al., Age and cause of death in mitochondrial diseases, NEUROLOGY, 53(4), 1999, pp. 855-857
Genetic counseling and prenatal diagnosis in mitochondrial diseases
Authors: Klopstock, T Gasser, T
Citation: T. Klopstock et T. Gasser, Genetic counseling and prenatal diagnosis in mitochondrial diseases, NERVENARZT, 70(6), 1999, pp. 504-508
Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene
Authors: Klopstock, T Chahrokh-Zadeh, S Holinski-Feder, E Meindl, A Gasser, T Pongratz, D Muller-Felber, W
Citation: T. Klopstock et al., Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene, ACT NEUROP, 97(2), 1999, pp. 139-142
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