Search Results - "GREHL, H"

Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development by Baechner, D, Liehr, T, Hameister, H, Altenberger, H, Grehl, H, Suter, U, Rautenstrauss, B

“…The gene encoding the peripheral myelin protein PMP22 is affected by various mutations in the hereditary peripheral neuropathies Charcot-Marie-Tooth disease…”
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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent by Timmerman, V, Rautenstrauss, B, Reiter, L T, Koeuth, T, Löfgren, A, Liehr, T, Nelis, E, Bathke, K D, De Jonghe, P, Grehl, H, Martin, J J, Lupski, J R, Van Broeckhoven, C

“…Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral…”
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T>C transition in codon 72 (TCG→CCG), S72P, a putative hotspot in PMP22 by Ekici, Arif B., Park, Oksoon, Korinthenberg, Rudolf, Grehl, Holger, Rautenstrauß, Bernd

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PMP22 Thr118Met is not a clinically relevant CMT1 marker by YOUNG, P, STÖGBAUER, F, VAN BROECKHOVEN, C, RINGELSTEIN, E. B, FUNKE, H, ELLER, B, DE JONGHE, P, LÖFGREN, A, TIMMERMAN, V, RAUTENSTRAUSS, B, OEXLE, K, GREHL, H, KUHLENBÄUMER, G

“…It is controversial if peripheral myelin protein 22 gene (PMP22) Thr118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this…”
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Use of FISH analysis for prostate tumors and other tissue types by Rautenstrauss, B, Liehr, T, Schrell, U M, Grehl, H

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Long-term therapy with high-dose intravenous immunoglobulins (IVIG) in inflammatory neuropathies by Grehl, H., Jaspert, A., Claus, D., Neundörfer, B.

“…Clinical data about the course of long‐term IVIG treatment in chronic inflammatory demyelinating polyneuropathy (CIDP) and in multifocal motor neuropathy (MMN)…”
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Histologic evidence for a toxic polyneuropathy due to exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in rats by Grehl, H, Grahmann, F, Claus, D, Neundörfer, B

“…2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) is a considerable environmental hazard in industrial societies. Its toxic effects on animals and humans are…”
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Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1 by Liehr, T, Grehl, H, Rautenstrauss, B

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A rapid method for FISH analysis on interphase nuclei extracted from cryofixed tissues by Liehr, Thomas, Grehl, Holger, Rautenstrauss, Bernd

“…The release of nuclei from archived tissue was first described by Hedley et al. in 1983. However, this protocol, which has subsequently been modified by…”
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Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice--a comparative study by Rautenstrauss, B, Zechner, U, Hameister, H, Grehl, H, Liehr, T

“…The Trembler mouse was the first animal model for Charcot-Marie-Tooth disease type 1 (CMT1), one of the most frequent inherited peripheral neuropathies in man…”
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Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ) by Ekici, A B, Schweitzer, D, Park, O, Lorek, D, Rautenstrauss, B, Krüger, G, Friedl, W, Uhlhaas, S, Bathke, K, Heuss, D, Kayser, C, Grehl, H

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Neuropeptide content of peripheral nerve in relation to nerve function in neuropathy by Bickel, A, Grehl, H, Butz, M, Schmelz, M, Engelhardt, A, Neundörfer, B, Neuhuber, W L, Handwerker, H O

“…In this study an APAAP (alcalic-phophatase-anti-alcalic-phosphatase) technique was used to distinguish afferent (calcitonin-gene-related-peptide (CGRP) or…”
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Significance of degenerating endoneurial cells in peripheral neuropathy by GREHL, H, SCHRODER, J. M

“…In 42 human sural nerve biopsies degeneration of endoneurial cells was evaluated semiquantitatively at the electronmicroscopic level. These cells were of…”
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Clinical and morphological phenotype of HMSN 1A mosaicism by Grehl, H., Rautenstrauss, B., Liehr, T., Bickel, A., Ekici, A., Bathke, K., Neundörfer, B.

“…Clinical, neurophysiological and morphological studies on a patient with mosaicism of the 17p11.2 duplication were performed in detail for the first time…”
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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study by Nelis, E, Van Broeckhoven, C, De Jonghe, P, Löfgren, A, Vandenberghe, A, Latour, P, Le Guern, E, Brice, A, Mostacciuolo, M L, Schiavon, F, Palau, F, Bort, S, Upadhyaya, M, Rocchi, M, Archidiacono, N, Mandich, P, Bellone, E, Silander, K, Savontaus, M L, Navon, R, Goldberg-Stern, H, Estivill, X, Volpini, V, Friedl, W, Gal, A

“…A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to…”
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Myotonic dystrophy : correlation of clinical symptoms with the size of the CTG trinucleotide repeat by JASPERT, A, FAHSOLD, R, GREHL, H, CLAUS, D

“…An unstable DNA sequence of a gene encoding a protein kinase has been identified as the molecular basis of myotonic dystrophy. The correlation between…”
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Disposition of clotiazepam: influence of age, sex, oral contraceptives, cimetidine, isoniazid and ethanol by OCHS, H. R, GREENBLATT, D. J, VERBURG-OCHS, B, HARMATZ, J. S, GREHL, H

“…Factors influencing the disposition of clotiazepam in man were evaluated in a series of pharmacokinetic studies in healthy volunteers given a single 5 mg dose…”
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Fish analysis of interphase nuclei extracted from paraffin-embedded tissue by Liehr, Thomas, Grebl, Holger, Rautenstrauss, Bernd

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Multifocal motor neuropathy : clinical and electrophysiological findings by JASPERT, A, CLAUS, D, GREHL, H, NEUNDÖRFER, B

“…Multifocal motor neuropathy (MMN) can be differentiated from motor neuron disease by electrophysiological evidence of conduction block. To increase the…”
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Age dependence of Doppler parameters in the basal cerebral arteries evaluated by transcranial color-coded duplex sonography. Reference data from 290 volunteers by Shambal, S, Grehl, H, Zierz, S, Lindner, A

“…In this study the Doppler parameters of the basal intracranial arteries and the insonation in axial and coronary plane by temporal approach were established in…”
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