Search Results - Strom, Tim M.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun (Author) , Tucci, Arianna (Author) , Cipriani, Valentina (Author) , Demidov, German (Author) , Rocca, Clarissa (Author) , Senderek, Jan (Author) , Butryn, Michaela (Author) , Velic, Ana (Author) , Lam, Tanya (Author) , Galanaki, Evangelia (Author) , Cali, Elisa (Author) , Vestito, Letizia (Author) , Maroofian, Reza (Author) , Deininger, Natalie (Author) , Rautenberg, Maren (Author) , Admard, Jakob (Author) , Hahn, Gesa-Astrid (Author) , Bartels, Claudius (Author) , Os, Nienke J. H. van (Author) , Horvath, Rita (Author) , Chinnery, Patrick F. (Author) , Tiet, May Yung (Author) , Hewamadduma, Channa (Author) , Hadjivassiliou, Marios (Author) , Tofaris, George K. (Author) , Wood, Nicholas (Author) , Hayer, Stefanie Nicole (Author) , Bender, Friedemann (Author) , Menden, Benita (Author) , Cordts, Isabell (Author) , Klein, Katrin (Author) , Nguyen, Huu Phuc (Author) , Krauss, Joachim K. (Author) , Blahak, Christian (Author) , Strom, Tim M. (Author) , Sturm, Marc (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Lerche, Holger (Author) , Maček, Boris (Author) , Synofzik, Matthis (Author) , Ossowski, Stephan (Author) , Timmann-Braun, Dagmar (Author) , Wolf, Marc (Author) , Smedley, Damian (Author) , Rieß, Olaf (Author) , Schöls, Ludger (Author) , Houlden, Henry (Author) , Haack, Tobias (Author) , Hengel, Holger (Author) ,

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente (Author) , Gusic, Mirjana (Author) , Kopajtich, Robert (Author) , Mertes, Christian (Author) , Smith, Nicholas H. (Author) , Alston, Charlotte L. (Author) , Ban, Rui (Author) , Beblo, Skadi (Author) , Berutti, Riccardo (Author) , Blessing, Holger (Author) , Ciara, Elzbieta (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Haeberle, Johannes (Author) , Hayflick, Susan J. (Author) , Hempel, Maja (Author) , Itkis, Yulia S. (Author) , Kishita, Yoshihito (Author) , Klopstock, Thomas (Author) , Krylova, Tatiana D. (Author) , Lamperti, Costanza (Author) , Lenz, Dominic (Author) , Makowski, Christine (Author) , Mosegaard, Signe (Author) , Mueller, Michaela F. (Author) , Munoz-Pujol, Gerard (Author) , Nadel, Agnieszka (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Procopio, Elena (Author) , Schwarzmayr, Thomas (Author) , Smet, Joel (Author) , Staufner, Christian (Author) , Stenton, Sarah L. (Author) , Strom, Tim M. (Author) , Terrile, Caterina (Author) , Tort, Frederic (Author) , Van Coster, Rudy (Author) , Vanlander, Arnaud (Author) , Wagner, Matias (Author) , Xu, Manting (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Mayr, Johannes A. (Author) , Piekutowska-Abramczuk, Dorota (Author) , Ribes, Antonia (Author) , Roetig, Agnes (Author) , Taylor, Robert W. (Author) , Wortmann, Saskia B. (Author) , Murayama, Kei (Author) , Meitinger, Thomas (Author) , Gagneur, Julien (Author) , Prokisch, Holger (Author) ,

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,

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SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden by Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Brenner, David (Author) , Volk, Alexander E. (Author) , Borck, Guntram (Author) , Hermann, Andreas (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Danzer, Karin M. (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) , Weyen, Ute (Author) , Regensburger, Martin (Author) , Winkler, Jürgen (Author) , Linker, Ralf (Author) , Winner, Beate (Author) , Hagenacker, Tim (Author) , Koch, Jan Christoph (Author) , Lingor, Paul (Author) , Göricke, Bettina (Author) , Zierz, Stephan (Author) , Jordan, Berit (Author) , Baum, Petra (Author) , Wolf, Joachim (Author) , Winkler, Andrea (Author) , Young, Peter (Author) , Bogdahn, Ulrich (Author) , Prudlo, Johannes (Author) , Kassubek, Jan Rainer (Author) ,

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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification: letter to the editor by Forouhideh, Yalda (Author) , Müller, Kathrin (Author) , Ruf, Wolfgang (Author) , Assi, Muhannad (Author) , Şeker, Tuncay (Author) , Tunca, Ceren (Author) , Knehr, Antje (Author) , Strom, Tim M (Author) , Gorges, Martin (Author) , Schradt, Falk (Author) , Meitinger, Thomas (Author) , Ludolph, Albert C. (Author) , Pinkhardt, Elmar H (Author) , Başak, A Nazlı (Author) , Kassubek, Jan Rainer (Author) , Uttner, Ingo (Author) , Weishaupt, Jochen H. (Author) ,

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Hot-spot KIF5A mutations cause familial ALS by Brenner, David (Author) , Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Meyer, Thomas (Author) , Großkreutz, Julian (Author) , Weydt, Patrick (Author) , Ruf, Wolfgang (Author) , Neuwirth, Christoph (Author) , Weber, Markus (Author) , Pinto, Susana (Author) , Claeys, Kristl G. (Author) , Schrank, Berthold (Author) , Jordan, Berit (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Hübers, Annemarie (Author) , Zeller, Daniel (Author) , Kubisch, Christian (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klopstock, Thomas (Author) , de Carvalho, Mamede (Author) , Sperfeld, Anne (Author) , Borck, Guntram (Author) , Volk, Alexander E. (Author) , Dorst, Johannes (Author) , Weis, Joachim (Author) , Otto, Markus (Author) , Schuster, Joachim (Author) , Del Tredici, Kelly (Author) , Braak, Heiko (Author) , Danzer, Karin M. (Author) , Freischmidt, Axel (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) ,

Comprehensive analysis of the mutation spectrum in 301 German ALS families by Müller, Kathrin (Author) , Brenner, David (Author) , Weydt, Patrick (Author) , Meyer, Thomas (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Großkreutz, Julian (Author) , Schuster, Joachim (Author) , Volk, Alexander E. (Author) , Borck, Guntram (Author) , Kubisch, Christian (Author) , Klopstock, Thomas (Author) , Zeller, Daniel (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klebe, Stephan (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Weis, Joachim (Author) , Claeys, Kristl G. (Author) , Schrank, Berthold (Author) , Sperfeld, Anne-Dorte (Author) , Hübers, Annemarie (Author) , Otto, Markus (Author) , Dorst, Johannes (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Andersen, Peter M. (Author) , Ludolph, Albert C. (Author) , Weishaupt, Jochen H. (Author) ,

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Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation by Weik, Anja Kathrin (Author) , Rohrschneider, Klaus (Author) , Strom, Tim M. (Author) , Glöckle, Nicola (Author) , Kohl, Susanne (Author) , Wissinger, Bernd (Author) , Weisschuh, Nicole (Author) ,

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The first Scube3 mutant mouse line with pleiotropic phenotypic alterations by Fuchs, Helmut (Author) , Sabrautzki, Sibylle (Author) , Przemeck, Gerhard K. H. (Author) , Leuchtenberger, Stefanie (Author) , Lorenz-Depiereux, Bettina (Author) , Becker, Lore (Author) , Rathkolb, Birgit (Author) , Horsch, Marion (Author) , Garrett, Lillian (Author) , Östereicher, Manuela A. (Author) , Hans, Wolfgang (Author) , Abe, Koichiro (Author) , Sagawa, Nobuho (Author) , Rozman, Jan (Author) , Vargas-Panesso, Ingrid L. (Author) , Sandholzer, Michael (Author) , Lisse, Thomas S. (Author) , Adler, Thure (Author) , Aguilar-Pimentel, Juan Antonio (Author) , Calzada-Wack, Julia (Author) , Ehrhard, Nicole (Author) , Elvert, Ralf (Author) , Gau, Christine (Author) , Hölter-Koch, Sabine (Author) , Micklich, Katja (Author) , Moreth, Kristin (Author) , Prehn, Cornelia (Author) , Puk, Oliver (Author) , Racz, Ildiko (Author) , Stoeger, Claudia (Author) , Vernaleken, Alexandra (Author) , Michel, Dian (Author) , Diener, Susanne (Author) , Wieland, Thomas (Author) , Adamski, Jerzy (Author) , Bekeredjian, Raffi (Author) , Busch, Dirk H. (Author) , Favor, John (Author) , Graw, Jochen (Author) , Klingenspor, Martin (Author) , Lengger, Christoph (Author) , Maier, Holger (Author) , Neff, Frauke (Author) , Ollert, Markus (Author) , Stoeger, Tobias (Author) , Yildirim, Ali Önder (Author) , Strom, Tim M. (Author) , Zimmer, Andreas (Author) , Wolf, Eckhard (Author) , Wurst, Wolfgang (Author) , Klopstock, Thomas (Author) , Beckers, Johannes (Author) , Gailus-Durner, Valerie (Author) , Angelis, Martin Hrabé de (Author) ,

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Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies by Auer-Grumbach, Michaela (Author) , Toegel, Stefan (Author) , Schabhüttl, Maria (Author) , Weinmann, Daniela (Author) , Chiari, Catharina (Author) , Bennett, David L. H. (Author) , Beetz, Christian (Author) , Klein, Dennis (Author) , Andersen, Peter M. (Author) , Böhme, Ilka (Author) , Fink-Puches, Regina (Author) , Gonzalez, Michael (Author) , Harms, Matthew B. (Author) , Motley, William (Author) , Reilly, Mary M. (Author) , Renner, Wilfried (Author) , Rudnik-Schöneborn, Sabine (Author) , Schlotter-Weigel, Beate (Author) , Themistocleous, Andreas C. (Author) , Weishaupt, Jochen H. (Author) , Ludolph, Albert C. (Author) , Wieland, Thomas (Author) , Tao, Feifei (Author) , Abreu, Lisa (Author) , Windhager, Reinhard (Author) , Zitzelsberger, Manuela (Author) , Strom, Tim M. (Author) , Walther, Thomas (Author) , Scherer, Steven S. (Author) , Züchner, Stephan (Author) , Martini, Rudolf (Author) , Senderek, Jan (Author) ,

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NEK1 mutations in familial amyotrophic lateral sclerosis: letter to the editor by Brenner, David (Author) , Müller, Kathrin (Author) , Wieland, Thomas (Author) , Weydt, Patrick (Author) , Böhm, Sarah (Author) , Lulé, Dorothée (Author) , Hübers, Annemarie (Author) , Neuwirth, Christoph (Author) , Weber, Markus (Author) , Borck, Guntram (Author) , Wahlqvist, Magnus (Author) , Danzer, Karin M. (Author) , Volk, Alexander E. (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Otto, Markus (Author) , Kassubek, Jan (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) ,

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Transcriptional regulator PRDM12 is essential for human pain perception by Chen, Ya-Chun (Author) , Auer-Grumbach, Michaela (Author) , Matsukawa, Shinya (Author) , Zitzelsberger, Manuela (Author) , Themistocleous, Andreas C. (Author) , Strom, Tim M. (Author) , Samara, Chrysanthi (Author) , Moore, Adrian W. (Author) , Cho, Lily Ting-Yin (Author) , Young, Gareth T. (Author) , Weiss, Caecilia (Author) , Schabhüttl, Maria (Author) , Stucka, Rolf (Author) , Schmid, Annina B. (Author) , Parman, Yesim (Author) , Graul-Neumann, Luitgard (Author) , Heinritz, Wolfram (Author) , Passarge, Eberhard (Author) , Watson, Rosemarie M. (Author) , Hertz, Jens Michael (Author) , Moog, Ute (Author) , Baumgartner, Manuela (Author) , Valente, Enza Maria (Author) , Pereira, Diego (Author) , Restrepo, Carlos M. (Author) , Katona, Istvan (Author) , Dusl, Marina (Author) , Stendel, Claudia (Author) , Wieland, Thomas (Author) , Stafford, Fay (Author) , Reimann, Frank (Author) , von Au, Katja (Author) , Finke, Christian (Author) , Willems, Patrick J. (Author) , Nahorski, Michael S. (Author) , Shaikh, Samiha S. (Author) , Carvalho, Ofélia P. (Author) , Nicholas, Adeline K. (Author) , Karbani, Gulshan (Author) , McAleer, Maeve A. (Author) , Cilio, Maria Roberta (Author) , McHugh, John C. (Author) , Murphy, Sinead M. (Author) , Irvine, Alan D. (Author) , Jensen, Uffe Birk (Author) , Windhager, Reinhard (Author) , Weis, Joachim (Author) , Bergmann, Carsten (Author) , Rautenstrauss, Bernd (Author) , Baets, Jonathan (Author) , De Jonghe, Peter (Author) , Reilly, Mary M. (Author) , Kropatsch, Regina (Author) , Kurth, Ingo (Author) , Chrast, Roman (Author) , Michiue, Tatsuo (Author) , Bennett, David L. H. (Author) , Woods, C. Geoffrey (Author) , Senderek, Jan (Author) ,

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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias (Author) , Jackson, Christopher B. (Author) , Murayama, Kei (Author) , Kremer, Laura S. (Author) , Schaller, André (Author) , Kotzaeridou, Urania (Author) , Vries, Maaike C. de (Author) , Schottmann, Gudrun (Author) , Santra, Saikat (Author) , Büchner, Boriana (Author) , Wieland, Thomas (Author) , Graf, Elisabeth (Author) , Freisinger, Peter (Author) , Eggimann, Sandra (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Kohda, Masakazu (Author) , Kishita, Yoshihito (Author) , Tokuzawa, Yoshimi (Author) , Sauer, Sascha (Author) , Memari, Yasin (Author) , Kolb‐Kokocinski, Anja (Author) , Durbin, Richard (Author) , Hasselmann, Oswald (Author) , Cremer, Kirsten (Author) , Albrecht, Beate (Author) , Wieczorek, Dagmar (Author) , Engels, Hartmut (Author) , Hahn, Dagmar (Author) , Zink, Alexander M. (Author) , Alston, Charlotte L. (Author) , Taylor, Robert W. (Author) , Rodenburg, Richard J. (Author) , Trollmann, Regina (Author) , Sperl, Wolfgang (Author) , Strom, Tim M. (Author) , Hoffmann, Georg F. (Author) , Mayr, Johannes A. (Author) , Meitinger, Thomas (Author) , Bolognini, Ramona (Author) , Schuelke, Markus (Author) , Nuoffer, Jean-Marc (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Klopstock, Thomas (Author) ,

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia by Freischmidt, Axel (Author) , Wieland, Thomas (Author) , Richter, Benjamin (Author) , Ruf, Wolfgang (Author) , Schaeffer, Veronique (Author) , Müller, Kathrin (Author) , Marroquin, Nicolai (Author) , Nordin, Frida (Author) , Hübers, Annemarie (Author) , Weydt, Patrick (Author) , Pinto, Susana (Author) , Press, Rayomond (Author) , Millecamps, Stéphanie (Author) , Molko, Nicolas (Author) , Bernard, Emilien (Author) , Desnuelle, Claude (Author) , Soriani, Marie-Hélène (Author) , Dorst, Johannes (Author) , Graf, Elisabeth (Author) , Nordström, Ulrika (Author) , Feiler, Marisa S. (Author) , Putz, Stefan (Author) , Böckers, Tobias M. (Author) , Meyer, Thomas (Author) , Winkler, Andrea S. (Author) , Winkelman, Juliane (Author) , de Carvalho, Mamede (Author) , Thal, Dietmar R. (Author) , Otto, Markus (Author) , Brännström, Thomas (Author) , Volk, Alexander E. (Author) , Kursula, Petri (Author) , Danzer, Karin M. (Author) , Lichtner, Peter (Author) , Dikic, Ivan (Author) , Meitinger, Thomas (Author) , Ludolph, Albert C. (Author) , Strom, Tim M. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) ,

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Mutations in RAB28, encoding a farnesylated small GTPase: are associated with autosomal-recessive cone-rod dystrophy by Roosing, Susanne (Author) , Rohrschneider, Klaus (Author) , Beryozkin, Avigail (Author) , Sharon, Dror (Author) , Weisschuh, Nicole (Author) , Staller, Jennifer (Author) , Kohl, Susanne (Author) , Zelinger, Lina (Author) , Peters, Theo A. (Author) , Neveling, Kornelia (Author) , Strom, Tim M. (Author) , van den Born, L. Ingeborgh (Author) , Hoyng, Carel B. (Author) , Klaver, Caroline C. W. (Author) , Roepman, Ronald (Author) , Wissinger, Bernd (Author) , Banin, Eyal (Author) , Cremers, Frans P. M. (Author) , den Hollander, Anneke I. (Author) ,

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Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies by Meder, Benjamin (Author) , Haas, Jan (Author) , Keller, Andreas (Author) , Heid, Christiane (Author) , Just, Steffen (Author) , Borries, Anne (Author) , Boisguérin, Valesca (Author) , Scharfenberger-Schmeer, Maren (Author) , Stähler, Peer (Author) , Beier, Markus (Author) , Weichenhan, Dieter (Author) , Strom, Tim M. (Author) , Pfeufer, Arne (Author) , Korn, Bernhard (Author) , Katus, Hugo (Author) , Rottbauer, Wolfgang (Author) ,

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits by Horn, Denise (Author) , Kapeller, Johannes (Author) , Rivera-Brugués, Núria (Author) , Moog, Ute (Author) , Lorenz-Depiereux, Bettina (Author) , Eck, Sebastian (Author) , Hempel, Maja (Author) , Wagenstaller, Janine (Author) , Gawthrope, Alex (Author) , Monaco, Anthony P. (Author) , Bonin, Michael (Author) , Riess, Olaf (Author) , Wohlleber, Eva (Author) , Illig, Thomas (Author) , Bezzina, Connie R. (Author) , Franke, Andre (Author) , Spranger, Stephanie (Author) , Villavicencio-Lorini, Pablo (Author) , Seifert, Wenke (Author) , Rosenfeld, Jochen (Author) , Klopocki, Eva (Author) , Rappold, Gudrun (Author) , Strom, Tim M. (Author) ,

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