Search Results - "Dullinger, J"

Early-onset ALS with long-term survival associated with spastin gene mutation by MEYER, T, SCHWAN, A, LINKE, P, DULLINGER, J. S, BROCKE, J, HOFFMANN, K.-T, NOLTE, C. H, HOPT, A, KOPP, U, ANDERSEN, P, EPPLEN, J. T

“…The authors report a 73-year-old patient with a natural history of early-onset ALS for 49 years presenting with limb and bulbar amyotrophy and a pyramidal…”
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Thalidomide causes sinus bradycardia in ALS by Meyer, T., Maier, A., Borisow, N., Dullinger, J. S., Splettstößer, G., Ohlraun, S., Münch, C., Linke, P.

“…Objective Neuroinflammation contributes to motor neuron degeneration in ALS. Thalidomide (THL) shows potent anti-inflammatory properties and increased the…”
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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies by Alekov, Alexi K, Rau, Birgit, Hebeisen, Simon, Propping, Peter, Haverkamp, Fritz, Janz, Dieter, Fahlke, Christoph, Maljevic, Snezana, Beyenburg, Stefan, Haug, Karsten, Dullinger, Joern S, Kubisch, Christian, Lerche, Holger, Elger, Christian E, Ramírez, Alfredo, Horvath, Steve, Müller-Newen, Gerhard, Rebstock, Johannes, Heils, Armin, Warnstedt, Maike, Hallmann, Kerstin, Poser, Barbara, Giese, Bernd, Sander, Thomas, Schulz, Herbert

“…Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about 0.4% of the world's population. Mutations in ten genes causing…”
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Elective termination of respiratory therapy in amyotrophic lateral sclerosis by Meyer, T, Dullinger, J S, Münch, C, Keil, J-P, Hempel, E, Rosseau, S, Borisow, N, Linke, P

“…Due to the growing use of artificial respiration in amyotrophic lateral sclerosis (ALS), physicians are increasingly confronted with patients seeking…”
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Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans by Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon

“…The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a…”
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The voltage-gated sodium channel β2-subunit gene and idiopathic generalized epilepsy by Haug, Karsten, Sander, Thomas, Hallmann, Kerstin, Rau, Birgit, Dullinger, Joern S, Elger, Christian E, Propping, Peter, Heils, Armin

“…Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyper-excitability plays an important…”
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The voltage-gated sodium channel beta 2-subunit gene and idiopathic generalized epilepsy by Haug, K, Sander, T, Hallmann, K, Rau, B, Dullinger, J S, Elger, CE, Propping, P, Heils, A

“…Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyper-excitability plays an important…”
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Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy by Haug, K, Kremerskothen, J, Hallmann, K, Sander, T, Dullinger, J, Rau, B, Beyenburg, S, Lentze, M.J, Barnekow, A, Elger, C.E, Propping, P, Heils, A

“…Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance…”
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Progressive muscle atrophy. A rarely diagnosed variant of amyotrophic lateral sclerosis by Meyer, T, Münch, C, van Landeghem, F K H, Borisow, N, Dullinger, J, Linke, P

“…Progressive muscle atrophy (PMA) is a degenerative disease of the lower motor neuron. The course of the illness and the fatal prognosis correspond to those of…”
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Spastin related hereditary spastic paraplegia with dysplastic corpus callosum by Alber, Burkhard, Pernauer, Magdalena, Schwan, Annemarie, Rothmund, Gabriele, Hoffmann, Karl T., Brummer, Dagmar, Sperfeld, Anne D., Uttner, Ingo, Binder, Heinrich, Epplen, Joerg T., Dullinger, Jörn, Ludolph, Albert C., Meyer, Thomas

“…Thin corpus callosum has been recently observed in two patients with an autosomal dominant trait of hereditary spastic paraplegia (HSP) linked to a novel…”
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Elektive Termination der Beatmungstherapie bei der amyotrophen Lateralsklerose by Meyer, T., Dullinger, J.S., Münch, C., Keil, J.-P., Hempel, E., Rosseau, S., Borisow, N., Linke, P.

“…Zusammenfassung Hintergrund Durch die wachsende Anwendung einer künstlichen Beatmung bei der amyotrophen Lateralsklerose (ALS) werden Ärzte zunehmend mit…”
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The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy by Haug, Karsten, Hallmann, Kerstin, Rebstock, Johannes, Dullinger, Joern, Muth, Sabine, Haverkamp, Fritz, Pfeiffer, Heike, Rau, Birgit, Elger, Christian Erich, Propping, Peter, Heils, Armin

“…We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed…”
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Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS by Prudlo, Johannes, Alber, Burkhard, Kalscheuer, Vera M., Roemer, Klaus, Martin, Thomas, Dullinger, Joern, Sittinger, Helmut, Niemann, Stephan, Heutink, Peter, Ludolph, Albert C., Ropers, Hilger H., Zang, Klaus, Meyer, Thomas

“…A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude…”
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The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy by Haug, K, Sander, T, Hallmann, K, Rau, B, Dullinger, J S, Elger, C E, Propping, P, Heils, A

“…Recent identification of ion channel gene mutations in Mendelian epilepsies suggests that genetically driven neuronal hyperexcitability plays an important role…”
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Progressive Muskelatrophie: Eine unterdiagnostizierte Variante der amyotrophen Lateralsklerose by Meyer, T., Münch, C., van Landeghem, F.K.H., Borisow, N., Dullinger, J., Linke, P.

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No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy by Haug, Karsten, Hallmann, Kerstin, Horvath, Steve, Sander, Thomas, Kubisch, Christian, Rau, Birgit, Dullinger, Joern, Beyenburg, Stefan, Elger, Christian Erich, Propping, Peter, Heils, Armin

“…Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance…”
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