Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
Urwyler, A, Deufel, T, McCarthy, T, West, S
Published in British journal of anaesthesia : BJA (01.02.2001)
Published in British journal of anaesthesia : BJA (01.02.2001)
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Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia
Schultz, C. C., Mühleisen, T. W., Nenadic, I., Koch, K., Wagner, G., Schachtzabel, C., Siedek, F., Nöthen, M. M., Rietschel, M., Deufel, T., Kiehntopf, M., Cichon, S., Reichenbach, J. R., Sauer, H., Schlösser, R. G. M.
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Published in Psychological medicine (01.03.2014)
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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
Beetz, C, Nygren, A O H, Schickel, J, Auer-Grumbach, M, Bürk, K, Heide, G, Kassubek, J, Klimpe, S, Klopstock, T, Kreuz, F, Otto, S, Schüle, R, Schöls, L, Sperfeld, A-D, Witte, O W, Deufel, T
Published in Neurology (12.12.2006)
Published in Neurology (12.12.2006)
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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
Sauter, S., Miterski, B., Klimpe, S., Bönsch, D., Schöls, L., Visbeck, A., Papke, T., Hopf, H.C., Engel, W., Deufel, T., Epplen, J.T., Neesen, J.
Published in Human mutation (01.08.2002)
Published in Human mutation (01.08.2002)
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Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia
Schickel, J., Pamminger, T., Ehrsam, A., Münch, S., Huang, X., Klopstock, T., Kurlemann, G., Hemmerich, P., Dubiel, W., Deufel, T., Beetz, C.
Published in European journal of neurology (01.12.2007)
Published in European journal of neurology (01.12.2007)
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Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)
Schickel, J, Beetz, C, Frömmel, C, Heide, G, Sasse, A, Hemmerich, P, Deufel, T
Published in Neurology (14.02.2006)
Published in Neurology (14.02.2006)
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A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter
Bönsch, D, Schmidt, C-M, Scheer, P, Bohlender, J, Neumann, C, Am Zehnhoff-Dinnesen, A, Deufel, T
Published in HNO (01.04.2009)
Published in HNO (01.04.2009)
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Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
Bönsch, D, Schwindt, A, Navratil, P, Palm, D, Neumann, C, Klimpe, S, Schickel, J, Hazan, J, Weiller, C, Deufel, T, Liepert, J
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2003)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2003)
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G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia
Mitne-Neto, M, Kok, F, Beetz, C, Pessoa, A, Bueno, C, Graciani, Z, Martyn, M, Monteiro, C, Mitne, G, Hubert, P, Nygren, A, Valadares, M, Cerqueira, A, Starling, A, Deufel, T, Zatz, M
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene
Seidel, J., Streck, S., Bellstedt, K., Vianey‐Saban, C., Pedersen, C. B., Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, K. F., Sewell, A. C., Kauf, K., Zintl, F., Lehnert, W., Gregersen, N.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene
Deufel, T, Sudbrak, R, Feist, Y, Rübsam, B, Du Chesne, I, Schäfer, K L, Roewer, N, Grimm, T, Lehmann-Horn, F, Hartung, E J
Published in American journal of human genetics (01.06.1995)
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Published in American journal of human genetics (01.06.1995)
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Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I
Flott‐Rahmel, B., Falter, C., Schluff, P., Fingerhut, R., Christensen, E., Jakobs, C., Musshoff, U., Fautek, J. D., Deufel, T., Ludolph, A., Ullrich, K.
Published in Journal of inherited metabolic disease (01.07.1997)
Published in Journal of inherited metabolic disease (01.07.1997)
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Conference Proceeding
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility
DEUFEL, T, GOLLA, A, LEHMANN-HORN, F, ILES, D, MEINDL, A, MEITINGER, T, SCHINDELHAUER, D, DEVRIES, A, PONGRATZ, D, MACLENNAN, D. H, JOHNSON, K. J
Published in American journal of human genetics (01.06.1992)
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Published in American journal of human genetics (01.06.1992)
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Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15
Bönsch, D., Schmidt, C.M., Scheer, P., Bohlender, J., Neumann, C., am Zehnhoff-Dinnesen, A., Deufel, T.
Published in HNO (01.02.2008)
Published in HNO (01.02.2008)
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