Search Results - "QUASTHOFF, S"

Secondary myopathy due to systemic diseases by Finsterer, J., Löscher, W. N., Wanschitz, J., Quasthoff, S., Grisold, W.

“…Background Some systemic diseases also affect the skeletal muscle to various degrees and with different manifestations. This review aimed at summarizing and…”
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Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin‐related familial amyloidosis, and Pompe's disease by Finsterer, J., Wanschitz, J., Quasthoff, S., Iglseder, S., Löscher, W., Grisold, W.

“…Objectives Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin‐related familial…”
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Pompe disease in Austria: clinical, genetic and epidemiological aspects by Löscher, W. N., Huemer, M., Stulnig, T. M., Simschitz, P., Iglseder, S., Eggers, C., Moser, H., Möslinger, D., Freilinger, M., Lagler, F., Grinzinger, S., Reichhardt, M., Bittner, R. E., Schmidt, W. M., Lex, U., Brunner-Krainz, M., Quasthoff, S., Wanschitz, J. V.

“…In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted…”
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Consequences of mutations within the C terminus of the FHL1 gene by SCHOSER, B, GOEBEL, H. H, JANISCH, I, QUASTHOFF, S, ROTHER, J, BERGMANN, M, MÜLLER-FELBER, W, WINDPASSINGER, C

“…Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy with…”
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The frequency of occurrence of atypical lymphocytes in peripheral blood smears of natalizumab‐treated patients with multiple sclerosis by Robier, C., Amouzadeh‐Ghadikolai, O., Bregant, C., Diez, J., Melinz, K., Quehenberger, F., Quasthoff, S.

“…Summary Introduction Aside from the extensive published data on immunophenotypic lymphocyte subsets in natalizumab‐treated patients with multiple sclerosis…”
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The chemotherapeutic oxaliplatin alters voltage-gated Na + channel kinetics on rat sensory neurons by Adelsberger, Helmuth, Quasthoff, Stefan, Grosskreutz, Julian, Lepier, Alexandra, Eckel, Florian, Lersch, Christian

“…The chemotherapeutic oxaliplatin causes a sensory-motor neuropathy with predominantly hyperpathic symptoms. The mechanism underlying this hyperexcitability was…”
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Iatrogenic lesions of peripheral nerves by Löscher, W. N., Wanschitz, J., Iglseder, S., Vass, A., Grinzinger, S., Pöschl, P., Grisold, W., Ninkovic, M., Antoniadis, G., Pedro, M.T., König, R., Quasthoff, S., Oder, W., Finsterer, J.

“…Iatrogenic nerve lesions (INLs) are an integral part of peripheral neurology and require dedicated neurologists to manage them. INLs of peripheral nerves are…”
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Calcium potentials and tetrodotoxin-resistant sodium potentials in unmyelinated C fibres of biopsied human sural nerve by Quasthoff, S., Grosskreutz, J., Schröder, J.M., Schneider, U., Grafe, P.

“…Compound action potentials and electrotonic responses to 150 ms current pulses were recorded from isolated nerve fascicles of human sural nerve biopsies…”
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Effects of pressure block on sinusoidal current perception and sensory thresholds by Rahmanou, P, Quasthoff, S, Lin, C, Khullar, V, Bostock, H

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A mechanosensitive K+ channel with fast-gating kinetics on human axons blocked by gadolinium ions by Quasthoff, S

“…Current recordings from single mechanosensitive potassium channels were obtained from cell-attached and excised patches of human axons. The channel showed an…”
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X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations by Senderek, Jan, Hermanns, Benita, Bergmann, Carsten, Boroojerdi, Babak, Bajbouj, Malek, Hungs, Marcel, Ramaekers, Vincent T., Quasthoff, Stefan, Karch, Dieter, Schröder, J.Michael

“…The sensorimotor neuropathy of the Charcot–Marie–Tooth type (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked…”
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Capsaicin blocks tetrodotoxin-resistant sodium potentials and calcium potentials in unmyelinated C fibres of biopsied human sural nerve in vitro by Großkreutz, J., Quasthoff, S., Kühn, M., Grafe, P.

“…Topical application of capsaicin has been tested recently for treatment of painful peripheral neuropathy. In the present study, effects of capsaicin were…”
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X-linked dominant Charcot-Marie-Tooth disease : nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln) by SENDEREK, J, BERGMANN, C, QUASTHOFF, S, RAMAEKERS, V. T, SCHRÖDER, J. M

“…X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data,…”
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Chemotherapy-induced peripheral neuropathy by QUASTHOFF, Stefan, HARTUNG, Hans Peter

“…The induction of peripheral neuropathy is a common factor in limiting therapy with chemotherapeutic drugs. Little is known about the mechanisms responsible for…”
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Hyperglycaemic hypoxia alters after-potential and fast K+ conductance of rat axons by cytoplasmic acidification by Schneider, U, Quasthoff, S, Mitrović, N, Grafe, P

“…1. The effects of hyperglycaemic hypoxia (a condition possibly involved in the pathogenesis of diabetic neuropathy) on the depolarizing after-potential and the…”
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Clinical phase II evaluation of paclitaxel in combination with cisplatin in metastatic or recurrent squamous cell carcinoma of the head and neck by Thodtmann, R., Theiss, F., Kemmerich, M., Heinrich, B., Laubenbacher, C., Quasthoff, S., Kau, R., Herzog, M., Diergarten, K., Hanauske, A.-R.

“…Background: Paclitaxel as single agent has shown marked activity in several malignancies. The aim of the present phase II trial was to determine the activity…”
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Sodium channel inactivation kinetics of rat sensory and motor nerve fibres and their modulation by glutathione by Mitrović, N, Quasthoff, S, Grafe, P

“…Na+ channel currents of rat motor and sensory nerve fibres were studied with the patch-clamp technique on enzymatically demyelinated axons. Differences between…”
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Clinical aspects and molecular basis of oxaliplatin neurotoxicity: Current management and development of preventive measures by Gamelin, Erick, Gamelin, Laurence, Bossi, Laura, Quasthoff, Stefan

“…Neurotoxicity is the most frequent dose-limiting toxicity of oxaliplatin. Acute neurotoxicity is characterized by the rapid onset of cold-induced distal…”
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An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1 by Windpassinger, Christian, Schoser, Benedikt, Straub, Volker, Hochmeister, Sonja, Noor, Abdul, Lohberger, Birgit, Farra, Natalie, Petek, Erwin, Schwarzbraun, Thomas, Ofner, Lisa, Löscher, Wolfgang N., Wagner, Klaus, Lochmüller, Hanns, Vincent, John B., Quasthoff, Stefan

“…We have identified a large multigenerational Austrian family displaying a novel form of X-linked recessive myopathy. Affected individuals develop an…”
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P2612Elevated cardiac troponin T but not troponin I in patients with skeletal muscle disease by Schmid, J., Birner-Gruenberger, R., Liesinger, L., Stojakovic, T., Scharnagl, H., Dieplinger, B., Asslaber, M., Radl, R., Polacin, M., Beer, M., Szolar, D., Quasthoff, S., Binder, J.S., Rainer, P.

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