Search Results - "Deufel, T"

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia by Urwyler, A, Deufel, T, McCarthy, T, West, S

“…Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT)…”
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Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia by 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

“…Recent studies have provided strong evidence that variation in the gene neurocan (NCAN, rs1064395) is a common risk factor for bipolar disorder (BD) and…”
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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia by BEETZ, C, NYGREN, A. O. H, OTTO, S, SCHÜLE, R, SCHÖLS, L, SPERFELD, A.-D, WITTE, O. W, DEUFEL, T, SCHICKEL, J, AUER-GRUMBACH, M, BÜRK, K, HEIDE, G, KASSUBEK, J, KLIMPE, S, KLOPSTOCK, T, KREUZ, F

“…Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of…”
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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia by 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.

“…Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive…”
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Effect of regular sauna on epidermal barrier function and stratum corneum water-holding capacity in vivo in humans: a controlled study by Kowatzki, D, Macholdt, C, Krull, K, Schmidt, D, Deufel, T, Elsner, P, Fluhr, J W

“…During the last few years, sauna has become the epitome of wellness. Besides studies in general medicine evaluating the health benefit of sauna, e.g. on the…”
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Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia by Schickel, J., Pamminger, T., Ehrsam, A., Münch, S., Huang, X., Klopstock, T., Kurlemann, G., Hemmerich, P., Dubiel, W., Deufel, T., Beetz, C.

“…Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder selectively affecting axons of spinal cord motoneurons. Classical mutations in the most…”
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Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells by Liebmann, L, Beetz, C, Thorwarth, M, Deufel, T, Hübner, Ca

“…In vitro modelling of neuronal pathologies is, in particular, demanding and a lot of efforts have been undertaken to differentiate skin derived precursor cells…”
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Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin) by SCHICKEL, J, BEETZ, C, FRÖMMEL, C, HEIDE, G, SASSE, A, HEMMERICH, P, DEUFEL, T

“…The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. This apparent missense mutation in the ATPase…”
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POS-03.92: Early detection of prostata carcinoma: comparison of the diagnostical accuracy of complexed psa and ratio c/tpsa versus total psa and ratio F/TPSA by Berg, W, Wolf, U, Haas, C.D, Becker, U.T, Deufel, T, Schubert, J

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A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter by Bönsch, D, Schmidt, C-M, Scheer, P, Bohlender, J, Neumann, C, Am Zehnhoff-Dinnesen, A, Deufel, T

“…By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known…”
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Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene by Bönsch, D, Schwindt, A, Navratil, P, Palm, D, Neumann, C, Klimpe, S, Schickel, J, Hazan, J, Weiller, C, Deufel, T, Liepert, J

“…Background: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical…”
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A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15 by Bönsch, D, Schmidt, C M, Scheer, P, Bohlender, J, Neumann, C, am Zehnhoff-Dinnesen, A, Deufel, T

“…Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural…”
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G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia by 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

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Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene by 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.

“…We report identification of short‐chain acyl‐CoA dehydrogenase (SCAD) deficiency in a 12‐year‐old boy who suffered from recurrent attacks of vomiting once or…”
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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 by Deufel, T, Sudbrak, R, Feist, Y, Rübsam, B, Du Chesne, I, Schäfer, K L, Roewer, N, Grimm, T, Lehmann-Horn, F, Hartung, E J

“…A point mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) has been proposed as the probable cause of malignant hyperthermia (MH)…”
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Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I by Flott‐Rahmel, B., Falter, C., Schluff, P., Fingerhut, R., Christensen, E., Jakobs, C., Musshoff, U., Fautek, J. D., Deufel, T., Ludolph, A., Ullrich, K.

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PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype by Bönsch, D, Neumann, C, Lang-Roth, R, Witte, O, Lamprecht-Dinnesen, A, Deufel, T

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Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter by Bönsch, D., Schmidt, C.-M., Scheer, P., Bohlender, J., Neumann, C., am Zehnhoff-Dinnesen, A., Deufel, T.

“…Zusammenfassung Bei der Untersuchung einer deutschen Familie mit nichtsyndromalem Hörverlust mit frühem Beginn und autosomal-dominantem Erbgang konnten wir…”
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Evidence for genetic heterogeneity of malignant hyperthermia susceptibility by 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

“…A locus for malignant hyperthermia susceptibility (MHS) has been localized on chromosome 19q12-13.2, while at the same time the gene encoding the skeletal…”
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Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15 by Bönsch, D., Schmidt, C.M., Scheer, P., Bohlender, J., Neumann, C., am Zehnhoff-Dinnesen, A., Deufel, T.

“…Zusammenfassung Hintergrund Der nichtsyndromale Hörverlust ist die Erkrankung, für die beim Menschen bislang die häufigsten genetischen Veränderungen entdeckt…”
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