1,533 results on '"Lerche, Holger"'
Search Results
152. Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings
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Stier, Christina, primary, Elshahabi, Adham, additional, Li Hegner, Yiwen, additional, Kotikalapudi, Raviteja, additional, Marquetand, Justus, additional, Braun, Christoph, additional, Lerche, Holger, additional, and Focke, Niels K., additional
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- 2021
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153. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations
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Schwarz, Niklas, primary, Seiffert, Simone, additional, Pendziwiat, Manuela, additional, Rademacher, Annika, additional, Brünger, Tobias, additional, Hedrich, Ulrike B.S., additional, Augustijn, Paul B, additional, Baier, Hartmut, additional, Bayat, Allan, additional, Bisulli, Francesca, additional, Buono, Russell J, additional, Bruria, Ben Zeev, additional, Doyle, Michael G, additional, Guerrini, Renzo, additional, Heimer, Gali, additional, Iacomino, Michele, additional, Kearney, Hugh, additional, Klein, Karl Martin, additional, Kousiappa, Ioanna, additional, Kunz, Wolfram S., additional, Lerche, Holger, additional, Licchetta, Laura, additional, Lohmann, Ebba, additional, Minardi, Raffaella, additional, McDonald, Marie, additional, Montgomery, Sarah, additional, Mulahasanovic, Lejla, additional, Oegema, Renske, additional, Ortal, Barel, additional, Papacostas, Savvas S., additional, Ragona, Francesca, additional, Granata, Tiziana, additional, Reif, Philipp S., additional, Rosenow, Felix, additional, Rothschild, Annick, additional, Scudieri, Paolo, additional, Striano, Pasquale, additional, Tinuper, Paolo, additional, Tanteles, George A., additional, Vetro, Annalisa, additional, Zahnert, Felix, additional, Zara, Federico, additional, Lal, Dennis, additional, May, Patrick, additional, Muhle, Hiltrud, additional, Helbig, Ingo, additional, and Weber, Yvonne, additional
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- 2021
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154. In vitro effects of S-Licarbazepine as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders
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Bayraktar, Erva, primary, Liu, Yuanyuan, additional, Hedrich, Ulrike B.S., additional, Sara, Yildirim, additional, Lerche, Holger, additional, Wuttke, Thomas V, additional, and Lauxmann, Stephan, additional
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- 2021
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155. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
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Balestrini, Simona, primary, Chiarello, Daniela, additional, Gogou, Maria, additional, Silvennoinen, Katri, additional, Puvirajasinghe, Clinda, additional, Jones, Wendy D, additional, Reif, Philipp, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Weber, Yvonne G, additional, Lerche, Holger, additional, Schubert-Bast, Susanne, additional, Borggraefe, Ingo, additional, Coppola, Antonietta, additional, Troisi, Serena, additional, Møller, Rikke S, additional, Riva, Antonella, additional, Striano, Pasquale, additional, Zara, Federico, additional, Hemingway, Cheryl, additional, Marini, Carla, additional, Rosati, Anna, additional, Mei, Davide, additional, Montomoli, Martino, additional, Guerrini, Renzo, additional, Cross, J Helen, additional, and Sisodiya, Sanjay M, additional
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- 2021
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156. Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
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Krüger, Johanna, primary, Schubert, Julian, additional, Kegele, Josua, additional, Labalme, Audrey, additional, Mao, Miaomiao, additional, Heighway, Jacqueline, additional, Seebohm, Guiscard, additional, Yan, Pu, additional, Koko, Mahmoud, additional, Aslan, Kezban, additional, Caglayan, Hande, additional, Steinhoff, Bernhard J., additional, Weber, Yvonne G., additional, Keo-Kosal, Pascale, additional, Berkovic, Samuel F., additional, Hildebrand, Michael S., additional, Petrou, Steven, additional, Krause, Roland, additional, May, Patrick, additional, Lesca, Gaetan, additional, Maljevic, Snezana, additional, and Lerche, Holger, additional
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- 2021
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157. KV7 channelopathies
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Maljevic, Snezana, Wuttke, Thomas V., Seebohm, Guiscard, and Lerche, Holger
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- 2010
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158. Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus
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Wimmer, Verena C., Reid, Christopher A., Mitchell, Suzanne, Richards, Kay L., Scaf, Byron B., Leaw, Bryan T., Hill, Elisa L., Royeck, Michel, Horstmann, Marie-Therese, Cromer, Brett A., Davies, Philip J., Xu, Ruwei, Lerche, Holger, Berkovic, Samuel F., Beck, Heinz, and Petrou, Steven
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Seizures (Medicine) -- Genetic aspects ,Gene expression -- Physiological aspects -- Genetic aspects -- Models ,Axons -- Genetic aspects -- Physiological aspects -- Models ,Epilepsy -- Models -- Genetic aspects ,Health care industry - Abstract
Febrile seizures are a common childhood seizure disorder and a defining feature of genetic epilepsy with febrile seizures plus (GEFS+), a syndrome frequently associated with [Na.sup.+] channel mutations. Here, we describe the creation of a knockin mouse heterozygous for the C121W mutation of the β1 [Na.sup.+] channel accessory subunit seen in patients with GEFS+. Heterozygous mice with increased core temperature displayed behavioral arrest and were more susceptible to thermal challenge than wild-type mice. Wild-type β1 was most concentrated in the membrane of axon initial segments (AIS) of pyramidal neurons, while the β1(C121W) mutant subunit was excluded from AIS membranes. In addition, AIS function, an indicator of neuronal excitability, was substantially enhanced in hippocampal pyramidal neurons of the heterozygous mouse specifically at higher temperatures. Computational modeling predicted that this enhanced excitability was caused by hyperpolarized voltage activation of AIS [Na.sup.+] channels. This heat-sensitive increased neuronal excitability presumably contributed to the heightened thermal seizure susceptibility and epileptiform discharges seen in patients and mice with β1(C121W) subunits. We therefore conclude that [Na.sup.+] channel β1 subunits modulate AIS excitability and that epilepsy can arise if this modulation is impaired., Introduction [Na.sup.+] channels play vital roles in many aspects of neuronal function, from subthreshold signaling and encoding of information via action potential (AP) initiation and propagation to synaptic transmission and [...]
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- 2010
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159. Epilepsy, Mesial Temporal Lobe
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Cendes, Fernando, Lopes-Cendes, Iscia, Beck, Heinz, Lerche, Holger, Elger, Christian, and Lang, Florian, editor
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- 2009
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160. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy
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Reinthaler, Eva M., Lal, Dennis, Jurkowski, Wiktor, Feucht, Martha, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Geldner, Julia, Haberlandt, Edda, Neophytou, Birgit, Hahn, Andreas, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Neubauer, Bernd A., and Zimprich, Fritz
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- 2014
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161. Idiopathic-generalized epilepsy shows profound white matter diffusion—tensor imaging alterations
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Focke, Niels K., Diederich, Christine, Helms, Gunther, Nitsche, Michael A., Lerche, Holger, and Paulus, Walter
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- 2014
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162. Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome
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Reid, Christopher A., Leaw, Bryan, Richards, Kay L., Richardson, Robert, Wimmer, Verena, Yu, Christiaan, Hill-Yardin, Elisa L., Lerche, Holger, Scheffer, Ingrid E., Berkovic, Samuel F., and Petrou, Steven
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- 2014
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163. DEPDC5 mutations in genetic focal epilepsies of childhood
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Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Bäumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmüller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz, and Neubauer, Bernd A.
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- 2014
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164. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
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Orhan, Gökce, Bock, Merle, Schepers, Dorien, Ilina, Elena I., Reichel, Stephanie Nadine, Löffler, Heidi, Jezutkovic, Nicole, Weckhuysen, Sarah, Mandelstam, Simone, Suls, Arvid, Danker, Timm, Guenther, Elke, Scheffer, Ingrid E., De Jonghe, Peter, Lerche, Holger, and Maljevic, Snezana
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- 2014
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165. Genetics of paroxysmal dyskinesias
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Weber, Yvonne G. and Lerche, Holger
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- 2009
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166. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
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Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., and Hengel, Holger
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Biallelic variants in UCHL1have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1variants on the basis of results from cohort-based burden analyses.
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- 2022
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167. Benigne familiäre Anfälle des Neugeborenen- und Säuglingsalters
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Jacob, M., Weber, Y. G., and Lerche, Holger
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- 2008
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168. A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
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Campbell, Ciarán, McCormack, Mark, Patel, Sonn, Stapleton, Caragh, Bobbili, Dheeraj, Krause, Roland, Depondt, Chantal, Sills, Graeme J., Koeleman, Bobby P., Striano, Pasquale, Zara, Federico, Sander, Josemir W., Lerche, Holger, Kunz, Wolfram S., Stefansson, Kari, Stefansson, Hreinn, Doherty, Colin P., Heinzen, Erin L., Scheffer, Ingrid E., and Goldstein, David B.
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DRUG side effects ,PSYCHIATRIC drugs ,DISEASE risk factors ,LEVETIRACETAM ,GENOME-wide association studies - Abstract
Objective: Levetiracetam (LEV) is an effective antiseizure medicine, but 10%–20% of people treated with LEV report psychiatric side‐effects, and up to 1% may have psychotic episodes. Pharmacogenomic predictors of these adverse drug reactions (ADRs) have yet to be identified. We sought to determine the contribution of both common and rare genetic variation to psychiatric and behavioral ADRs associated with LEV. Methods: This case‐control study compared cases of LEV‐associated behavioral disorder (n = 149) or psychotic reaction (n = 37) to LEV‐exposed people with no history of psychiatric ADRs (n = 920). All samples were of European ancestry. We performed genome‐wide association study (GWAS) analysis comparing those with LEV ADRs to controls. We estimated the polygenic risk scores (PRS) for schizophrenia and compared cases with LEV‐associated psychotic reaction to controls. Rare variant burden analysis was performed using exome sequence data of cases with psychotic reactions (n = 18) and controls (n = 122). Results: Univariate GWAS found no significant associations with either LEV‐associated behavioural disorder or LEV‐psychotic reaction. PRS analysis showed that cases of LEV‐associated psychotic reaction had an increased PRS for schizophrenia relative to contr ols (p =.0097, estimate =.4886). The rare‐variant analysis found no evidence of an increased burden of rare genetic variants in people who had experienced LEV‐associated psychotic reaction relative to controls. Significance: The polygenic burden for schizophrenia is a risk factor for LEV‐associated psychotic reaction. To assess the clinical utility of PRS as a predictor, it should be tested in an independent and ideally prospective cohort. Larger sample sizes are required for the identification of significant univariate common genetic signals or rare genetic signals associated with psychiatric LEV ADRs. [ABSTRACT FROM AUTHOR]
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- 2022
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169. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
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Ahring, Philip K, Liao, Vivian W Y, Gardella, Elena, Johannesen, Katrine M, Krey, Ilona, Selmer, Kaja K, Stadheim, Barbro F, Davis, Hannah, Peinhardt, Charlotte, Koko, Mahmoud, Coorg, Rohini K, Syrbe, Steffen, Bertsche, Astrid, Santiago-Sim, Teresa, Diemer, Tue, Fenger, Christina D, Platzer, Konrad, Eichler, Evan E, Lerche, Holger, and Lemke, Johannes R
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EPILEPSY ,CELL receptors ,GABA ,RESEARCH funding ,SEIZURES (Medicine) - Abstract
A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic mosaicism, another segregated with the disease in three affected family members, and the remaining five occurred de novo in sporadic patients. Electrophysiological measurements were used to determine the functional consequence of the seven missense δ subunit variants in receptor combinations of α1β3δ and α4β2δ GABAA receptors. This was accompanied by analysis of electroclinical phenotypes of the affected individuals. We determined that five of the seven variants caused altered function of the resulting α1β3δ and α4β2δ GABAA receptors. Surprisingly, four of the five variants led to gain-of-function effects, whereas one led to a loss-of-function effect. The stark differences between the gain-of-function and loss-of function effects were mirrored by the clinical phenotypes. Six patients with gain-of-function variants shared common phenotypes: neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. The EEG showed qualitative analogies among the different gain-of-function variant carriers consisting of focal slowing in the occipital regions often preceding irregular generalized epileptiform discharges, with frontal predominance. In contrast, the one patient carrying a loss-of-function variant had normal intelligence and no seizure history, but has a diagnosis of autism spectrum disorder and suffers from elevated internalizing psychiatric symptoms. We hypothesize that increase in tonic GABA-evoked current levels mediated by δ-containing extrasynaptic GABAA receptors lead to abnormal neurotransmission, which represent a novel mechanism for severe neurodevelopmental disorders. In support of this, the electroclinical findings for the gain-of-function GABRD variants resemble the phenotypic spectrum reported in patients with missense SLC6A1 (GABA uptake transporter) variants. This also indicates that the phenomenon of extrasynaptic receptor overactivity is observed in a broader range of patients with neurodevelopmental disorders, because SLC6A1 loss-of-function variants also lead to overactive extrasynaptic δ-containing GABAA receptors. These findings have implications when selecting potential treatment options, as a substantial portion of available antiseizure medication act by enhancing GABAergic function either directly or indirectly, which could exacerbate symptoms in patients with gain-of-function GABRD variants. [ABSTRACT FROM AUTHOR]
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- 2022
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170. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
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Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., and Sisodiya, Sanjay M.
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- 2013
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171. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
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Weber, Yvonne G., Storch, Alexander, Wuttke, Thomas V., Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A., Huber, Stephan M., Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M., Munchau, Alexander, Edwards, Mark J., Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P., Lehmann-Horn, Frank, and Lerche, Holger
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Hemolytic anemia -- Risk factors ,Hemolytic anemia -- Diagnosis ,Gene mutations -- Research ,Movement disorders -- Risk factors ,Movement disorders -- Diagnosis ,Movement disorders -- Care and treatment - Abstract
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1., Introduction Paroxysmal dyskinesias (PDs) are characterized by involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. They are classified into paroxysmal kinesigenic dyskinesia (PKD or PKC [...]
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- 2008
172. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects
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Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno, Lal, Dennis, Feng, Yen-Chen Anne, Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Goldstein, David B., Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Weckhuysen, Sarah, Stamberger, Hannah, De Jonghe, Peter, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišic, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Muccioli, Lorenzo, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Mameniskiene, Ruta, Utkus, Algirdas, Praninskiene, Ruta, Grikiniene, Jurgita, Samaitiene, Ruta, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapici, Zuhal, Yis, Uluc, Topaloglu, Pinar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Asli, Bebek, Nerses, Ugur-Iseri, Sibel, Baykan, Betül, Salman, Baris, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yesim, Özkara, Çigdem, Sheidley, Beth R., Shain, Catherine, Poduri, Annapurna, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, YÜCESAN, EMRAH, Niestroj L.-M., Perez-Palma E., Howrigan D.P., Zhou Y., Cheng F., Saarentaus E., Nurnberg P., Stevelink R., Daly M.J., Palotie A., Lal D, Epi 25 Collaborative, Bisulli F., Tinuper P., Licchetta L., and Epi25 Collaborative
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Developmental and epileptic encephalopathy ,Male ,0301 basic medicine ,DNA Copy Number Variations ,Disease ,Bioinformatics ,Genome ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,copy number variation ,developmental and epileptic encephalopathy ,epilepsy ,focal epilepsy ,genetic generalized epilepsy ,medicine ,Humans ,Genetic Predisposition to Disease ,Copy-number variation ,Generalized epilepsy ,DNA Copy Number Variation ,Copy number variation ,business.industry ,Breakpoint ,Focal epilepsy ,Original Articles ,medicine.disease ,3. Good health ,Genetic generalized epilepsy ,030104 developmental biology ,Female ,Human medicine ,Neurology (clinical) ,Personalized medicine ,business ,030217 neurology & neurosurgery ,Genome-Wide Association Study ,Human - Abstract
Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy were included. All samples were processed with the same technology and analysis pipeline. All investigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to controls. However, we observed striking differences in CNV burden across epilepsy types and investigated CNV categories. Genetic generalized epilepsy patients have the highest CNV burden in all categories tested, followed by developmental and epileptic encephalopathy patients. Both epilepsy types also show association for deletions covering genes intolerant for truncating variants. Genome-wide CNV breakpoint association showed not only significant loci for genetic generalized and developmental and epileptic encephalopathy patients but also for lesional focal epilepsy patients. With a 34-fold risk for developing genetic generalized epilepsy, we show for the first time that the established epilepsy-associated 15q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole genome. Using the human interactome, we examined the largest connected component of the genes overlapped by CNVs in the four epilepsy types. We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease modules. In summary, we show that in all common epilepsy types, 1.5–3% of patients carry epilepsy-associated CNVs. The characteristics of risk CNVs vary tremendously across and within epilepsy types. Thus, we advocate genome-wide genomic testing to identify all disease-associated types of CNVs.
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- 2020
173. Genomic and clinical predictors of lacosamide response in refractory epilepsies
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Heavin, Sinéad B., McCormack, Mark, Wolking, Stefan, Slattery, Lisa, Walley, Nicole, Avbersek, Andreja, Novy, Jan, Sinha, Saurabh R., Radtke, Rod, Doherty, Colin, Auce, Pauls, Craig, John, Johnson, Michael R., Koeleman, Bobby P. C., Krause, Roland, Kunz, Wolfram S., Marson, Anthony G., O'Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Stefansson, Hreinn, Striano, Pasquale, Zara, Federico, EPIGEN Consortium, EpiPGX Consortium, Depondt, Chantal, Sisodiya, Sanjay, Goldstein, David, Lerche, Holger, Cavalleri, Gianpiero L., Delanty, Norman, EPIGEN Consortium, EpiPGX Consortium, Wellcome Trust, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, and Medical Research Council (MRC)
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Oncology ,medicine.medical_specialty ,Candidate gene ,lacosamide ,Lacosamide ,Neurology [D14] [Human health sciences] ,Clinical Neurology ,Genome-wide association study ,lcsh:RC346-429 ,03 medical and health sciences ,0302 clinical medicine ,Refractory ,Internal medicine ,Medicine ,GWAS ,EpiPGX Consortium ,Exome ,lcsh:Neurology. Diseases of the nervous system ,030304 developmental biology ,Genetic association ,pharmacogenomics ,0303 health sciences ,Neurologie [D14] [Sciences de la santé humaine] ,business.industry ,EPIGEN Consortium ,Généralités ,pharmacoresistance ,refractory ,3. Good health ,Neurology ,Pharmacogenomics ,Cohort ,Full‐length Original Research ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Objective: Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting. Methods: We tested the association of clinical predictors with treatment response using regression modeling in a cohort of people with refractory epilepsy. Genetic assessment for lacosamide response was conducted via genome-wide association studies and exome studies, comprising 281 candidate genes. Results: Most patients (479/483) were treated with LCM in addition to other AEDs. Our results corroborate previous findings that patients with refractory genetic generalized epilepsy (GGE) may respond to treatment with LCM. No clear clinical predictors were identified. We then compared 73 lacosamide responders, defined as those experiencing greater than 75% seizure reduction or seizure freedom, to 495 nonresponders (, SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2019
174. Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy
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Hempelmann, Anne, Cobilanschi, Joana, Heils, Armin, Muhle, Hiltrud, Stephani, Ulrich, Weber, Yvonne, Lerche, Holger, and Sander, Thomas
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- 2007
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175. Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val
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Johannesen, Katrine M., Miranda, Maria J., Lerche, Holger, and Møller, Rikke S.
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- 2016
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176. Genetische Untersuchungen bei Epilepsien – vom Labor in die Praxis
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Weber, Yvonne and Lerche, Holger
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- 2016
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177. Estimating rate constants from single ion channel currents when the initial distribution is known
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The, Yu-Kai, Fernandez, Jacqueline, Popa, M. Oana, Lerche, Holger, and Timmer, Jens
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- 2005
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178. Epileptic nystagmus: two case reports, clinical and pathophysiological review of the literature
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Weber, Yvonne G., Roesche, Johannes, and Lerche, Holger
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Eye -- Medical examination ,Nystagmus -- Case studies ,Health - Published
- 2006
179. Faculty Opinions recommendation of Dendritic pathology, spine loss and synaptic reorganization in human cortex from epilepsy patients.
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Lerche, Holger, primary
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- 2020
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180. Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis
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Zimmermann, Milan, primary, Deininger, Natalie, additional, Willikens, Sophia, additional, Haack, Tobias B., additional, Grundmann-Hauser, Kathrin, additional, Streubel, Berthold, additional, Schreiber, Melanie, additional, Lerche, Holger, additional, and Grimm, Alexander, additional
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- 2020
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181. In allen Altersgruppen gleich gutes Ansprechen
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Lerche, Holger, primary
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- 2020
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182. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current
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Lauxmann, Stephan, Boutry-Kryza, Nadia, Rivier, Clotilde, Mueller, Stephan, Hedrich, Ulrike B. S., Maljevic, Snezana, Szepetowski, Pierre, Lerche, Holger, and Lesca, Gaetan
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- 2013
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183. Proposal for a “phase II” multicenter trial model for preclinical new antiepilepsy therapy development
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OʼBrien, Terence J., Ben-Menachem, Elinor, Bertram, Edward H., III, Collins, Stephen D., Kokaia, Merab, Lerche, Holger, Klitgaard, Henrik, Staley, Kevin J., Vaudano, Elisabetta, Walker, Matthew C., and Simonato, Michele
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- 2013
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184. Nonlinear Correlations Impair Quantification of Episodic Memory by Mesial Temporal BOLD Activity
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Klamer, Silke, Zeltner, Lena, Erb, Michael, Klose, Uwe, Wagner, Kathrin, Frings, Lars, Groen, Georg, Veil, Cornelia, Rona, Sabine, Lerche, Holger, and Milian, Monika
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- 2013
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185. Ion channels in genetic and acquired forms of epilepsy
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Lerche, Holger, Shah, Mala, Beck, Heinz, Noebels, Jeff, Johnston, Dan, and Vincent, Angela
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- 2013
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186. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
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Mller, Rikke S., Weber, Yvonne G., Klitten, Laura L., Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S., Mefford, Heather C., Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina-Maria, Wichmann, H.-Erich, Ernst, Jan P., Schurmann, Claudia, Grabe, Hans J., Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, and Sander, Thomas
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- 2013
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187. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
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Lal, Dennis, Trucks, Holger, Mller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., de Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, and Sander, Thomas
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- 2013
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188. Skeletal muscle channelopathies
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Jurkat-Rott, Karin, Lerche, Holger, and Lehmann-Horn, Frank
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- 2002
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189. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
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Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefu-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., and Sander, Thomas
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- 2012
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190. The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study
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Rosenow, Felix, Schade-Brittinger, Carmen, Burchardi, Nicole, Bauer, Sebastian, Klein, Karl Martin, Weber, Yvonne, Lerche, Holger, Evers, Stefan, Kovac, Stjepana, Hallmeyer-Elgner, Susanne, Winkler, Götz, Springub, Joachim, Niedhammer, Mathias, Roth, Erhard, Eisensehr, Ilonka, Berrouschot, Jörg, Arnold, Stephan, Schröder, Michael, Beige, Anja, Oertel, Wolfgang H, Strzelczyk, Adam, Haag, Anja, Reif, Philipp S, and Hamer, Hajo M
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- 2012
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191. Paroxysmal exercise-induced dyskinesia of the hands
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Clark, Camilla N., Weber, Yvonne W., Lerche, Holger, and Warner, Thomas T.
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- 2012
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192. PRRT2 Mutations are the major cause of benign familial infantile seizures
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Schubert, Julian, Paravidino, Roberta, Becker, Felicitas, Berger, Andrea, Bebek, Nerses, Bianchi, Amedeo, Brockmann, Knut, Capovilla, Giuseppe, Dalla Bernardina, Bernardo, Fukuyama, Yukio, Hoffmann, Georg F., Jurkat-Rott, Karin, Anttonen, Anna-Kaisa, Kurlemann, Gerhard, Lehesjoki, Anna-Elina, Lehmann-Horn, Frank, Mastrangelo, Massimo, Mause, Ulrike, Müller, Stephan, Neubauer, Bernd, Püst, Burkhard, Rating, Dietz, Robbiano, Angela, Ruf, Susanne, Schroeder, Christopher, Seidel, Andreas, Specchio, Nicola, Stephani, Ulrich, Striano, Pasquale, Teichler, Jens, Turkdogan, Dilsad, Vigevano, Federico, Viri, Maurizio, Bauer, Peter, Zara, Federico, Lerche, Holger, and Weber, Yvonne G.
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- 2012
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193. Hereditary Channelopathies in Neurology
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Jurkat-Rott, Karin, primary, Lerche, Holger, additional, Weber, Yvonne, additional, and Lehmann-Horn, Frank, additional
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- 2010
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194. Subthreshold changes of voltage-dependent activation of the K V7.2 channel in neonatal epilepsy
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Hunter, Jessica, Maljevic, Snezana, Shankar, Anupama, Siegel, Anne, Weissman, Barbara, Holt, Philip, Olson, Larry, Lerche, Holger, and Escayg, Andrew
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- 2006
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195. Episodic Ataxia Type 1 and Type 2
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Inai, Kei, primary, Leung, Alexander K. C., additional, Uitto, Jouni, additional, Diller, Gerhard-Paul, additional, Gatzoulis, Michael A., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Digilio, M. Cristina, additional, Marino, Bruno, additional, Dallapiccola, Bruno, additional, Koch, Christian A., additional, Vincent, Angela, additional, Bhargava, Ravi, additional, Leonard, Norma, additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Westermann, Dirk, additional, Tschöpe, Carsten, additional, Watson, Timothy, additional, Lip, Gregory Y. H., additional, Pfeffer, Klaus, additional, MacKenzie, Colin R., additional, Däubener, Walter, additional, Sauve, Reginald S., additional, Wong, Andrew L., additional, O’Sullivan, Leonard, additional, Beissert, Stefan, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Schröder, Rolf, additional, Unterberger, Iris, additional, Köhling, Rüdiger, additional, Lerche, Holger, additional, Picard, Fabienne, additional, Hahn, Andreas, additional, Neubauer, Bernd A., additional, Marini, Carla, additional, Guerrini, Renzo, additional, Zara, Frederico, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, Beck, Heinz, additional, Elger, Christian, additional, Graves, Tracey D., additional, Hanna, Michael G., additional, Heppt, Werner J., additional, Weber, Rainer, additional, Lisch, Walter, additional, Janecke, Andreas, additional, Seitz, Berthold, additional, Sunderkötter, Cord, additional, Megahed, Mosaad, additional, Hassan, Akmal, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Jeffcoate, William, additional, Schmitt, Marcus, additional, Frieling, Thomas, additional, Mann, Nirmal S., additional, Luconi, Michaela, additional, Rochira, Vincenzo, additional, Mineri, Rossana, additional, Tiranti, Valeria, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sobie, Eric A., additional, and Ramay, Hena R., additional
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- 2009
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196. GDM
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Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
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- 2009
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197. Genetic Hemochromatosis
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Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
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- 2009
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198. Glycogen Synthase Deficiency
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Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
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- 2009
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199. Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy
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Inai, Kei, primary, Leung, Alexander K. C., additional, Uitto, Jouni, additional, Diller, Gerhard-Paul, additional, Gatzoulis, Michael A., additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Digilio, M. Cristina, additional, Marino, Bruno, additional, Dallapiccola, Bruno, additional, Koch, Christian A., additional, Vincent, Angela, additional, Bhargava, Ravi, additional, Leonard, Norma, additional, Ma, Siobhan D., additional, Ma, Patrick T. S., additional, Westermann, Dirk, additional, Tschöpe, Carsten, additional, Watson, Timothy, additional, Lip, Gregory Y. H., additional, Pfeffer, Klaus, additional, MacKenzie, Colin R., additional, Däubener, Walter, additional, Sauve, Reginald S., additional, Wong, Andrew L., additional, O’Sullivan, Leonard, additional, Beissert, Stefan, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Schröder, Rolf, additional, Unterberger, Iris, additional, Köhling, Rüdiger, additional, Lerche, Holger, additional, Picard, Fabienne, additional, Hahn, Andreas, additional, Neubauer, Bernd A., additional, Marini, Carla, additional, Guerrini, Renzo, additional, Zara, Frederico, additional, Cendes, Fernando, additional, Lopes-Cendes, Iscia, additional, Beck, Heinz, additional, Elger, Christian, additional, Graves, Tracey D., additional, Hanna, Michael G., additional, Heppt, Werner J., additional, Weber, Rainer, additional, Lisch, Walter, additional, Janecke, Andreas, additional, Seitz, Berthold, additional, Sunderkötter, Cord, additional, Megahed, Mosaad, additional, Hassan, Akmal, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Jeffcoate, William, additional, Schmitt, Marcus, additional, Frieling, Thomas, additional, Mann, Nirmal S., additional, Luconi, Michaela, additional, Rochira, Vincenzo, additional, Mineri, Rossana, additional, Tiranti, Valeria, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Sobie, Eric A., additional, and Ramay, Hena R., additional
- Published
- 2009
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200. Graft-Versus-Host Disease
- Author
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Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
- Published
- 2009
- Full Text
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