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Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant

Marroquin, Nicolai ; Stranz, Sebastian ; Müller, Kathrin ; Wieland, Thomas ; Ruf, Wolfgang P ; Brockmann, Sarah J ; Danzer, Karin M ; Borck, Guntram ; Hübers, Annemarie ; Weydt, Patrick ; Meitinger, Thomas ; Strom, Tim - Matthias ; Rosenbohm, Angela ; Ludolph, Albert C ; Weishaupt, Jochen H

Brain, 2016, Vol. 139(2), pp.e8-e8 [Rivista Peer Reviewed]

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Hartig, Monika b ; Iuso, Arcangela ; Haack, Tobias ; Kmiec, Tomasz ; Jurkiewicz, Elzbieta ; Heim, Katharina ; Roeber, Sigrun ; Tarabin, Victoria ; Dusi, Sabrina ; Krajewska-Walasek, Malgorzata ; Jozwiak, Sergiusz ; Hempel, Maja ; Winkelmann, Juliane ; Elstner, Matthias ; Oexle, Konrad ; Klopstock, Thomas ; Mueller-Felber, Wolfgang ; Gasser, Thomas ; Trenkwalder, Claudia

The American Journal of Human Genetics, 2011, Vol.89(4), pp.543-550 [Rivista Peer Reviewed]

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RANTES/CCL5 and Risk for Coronary Events: Results from the MONICA/KORA Augsburg Case-Cohort, Athero-Express and CARDIoGRAM Studies (RANTES/CCL5 and Incident Coronary Events)

Herder, Christian ; Peeters, Wouter ; Illig, Thomas ; Baumert, Jens ; de Kleijn, Dominique P. V ; Moll, Frans L ; Poschen, Ulrike ; Klopp, Norman ; Müller-Nurasyid, Martina ; Roden, Michael ; Preuss, Michael ; Karakas, Mahir ; Meisinger, Christa ; Thorand, Barbara ; Pasterkamp, Gerard ; Koenig, Wolfgang

PLoS ONE, 2011, Vol.6(12), p.e25734 [Rivista Peer Reviewed]

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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Vill, Katharina ; Müller‐Felber, Wolfgang ; Alhaddad, Bader ; Strom, Tim M. ; Teusch, Veronika ; Weigand, Heike ; Blaschek, Astrid ; Meitinger, Thomas ; Haack, Tobias B.

Movement Disorders, May 2017, Vol.32(5), pp.797-799 [Rivista Peer Reviewed]

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Hot-spot KIF5A mutations cause familial ALS

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

Brain, 2018, Vol. 141(3), pp.688-697 [Rivista Peer Reviewed]

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Axel Freischmidt ; Thomas Wieland ; Benjamin Richter ; Wolfgang Ruf ; Veronique Schaeffer ; Kathrin Müller ; Nicolai Marroquin ; Frida Nordin ; Annemarie Hübers ; Patrick Weydt ; Susana Pinto ; Rayomond Press ; Stéphanie Millecamps ; Nicolas Molko ; Emilien Bernard ; Claude Desnuelle ; Marie-Hélène Soriani ; Johannes Dorst ; Elisabeth Graf ; Ulrika Nordström ; Marisa S Feiler ; Stefan Putz ; Tobias M Boeckers ; Thomas Meyer ; Andrea S Winkler ; Juliane Winkelman ; Mamede De Carvalho ; Dietmar R Thal ; Markus Otto ; Thomas Brännström ; Alexander E Volk ; Petri Kursula ; Karin M Danzer ; Peter Lichtner ; Ivan Dikic ; Thomas Meitinger ; Albert C Ludolph ; Tim M Strom ; Peter M Andersen ; Jochen H Weishaupt

Nature Neuroscience, 2015 [Rivista Peer Reviewed]

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Analyzing Illumina Gene Expression Microarray Data from Different Tissues: Methodological Aspects of Data Analysis in the MetaXpress Consortium (Methodological Aspects of Gene Expression Analysis)

Schurmann, Claudia ; Heim, Katharina ; Schillert, Arne ; Blankenberg, Stefan ; Carstensen, Maren ; Dörr, Marcus ; Endlich, Karlhans ; Felix, Stephan B ; Gieger, Christian ; Grallert, Harald ; Herder, Christian ; Hoffmann, Wolfgang ; Homuth, Georg ; Illig, Thomas ; Kruppa, Jochen ; Meitinger, Thomas ; Müller, Christian ; Nauck, Matthias ; Peters, Annette ; Rettig, Rainer ; Roden, Michael ; Strauch, Konstantin ; Völker, Uwe ; Völzke, Henry ; Wahl, Simone ; Wallaschofski, Henri ; Wild, Philipp S ; Zeller, Tanja ; Teumer, Alexander ; Prokisch, Holger ; Ziegler, Andreas ; Shomron, Noam (Editor)

2012, Vol.7(12), p.e50938 [Rivista Peer Reviewed]

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Kremer, Laura S ; Danhauser, Katharina ; Herebian, Diran ; Petkovic Ramadža, Danijela ; Piekutowska-Abramczuk, Dorota ; Seibt, Annette ; Müller-Felber, Wolfgang ; Haack, Tobias B ; Płoski, Rafał ; Lohmeier, Klaus ; Schneider, Dominik ; Klee, Dirk ; Rokicki, Dariusz ; Mayatepek, Ertan ; Strom, Tim M ; Meitinger, Thomas

The American Journal of Human Genetics, 06 October 2016, Vol.99(4), pp.894-902 [Rivista Peer Reviewed]

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Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

Schulte, Eva C ; Kousi, Maria ; Tan, Perciliz L ; Tilch, Erik ; Knauf, Franziska ; Lichtner, Peter ; Trenkwalder, Claudia ; Högl, Birgit ; Frauscher, Birgit ; Berger, Klaus ; Fietze, Ingo ; Hornyak, Magdolna ; Oertel, Wolfgang H ; Bachmann, Cornelius G ; Zimprich, Alexander ; Peters, Annette ; Gieger, Christian ; Meitinger, Thomas ; Müller-Myhsok

American journal of human genetics, 03 July 2014, Vol.95(1), pp.85-95 [Rivista Peer Reviewed]

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Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

Schulte, Eva C ; Schramm, Katharina ; Schurmann, Claudia ; Lichtner, Peter ; Herder, Christian ; Roden, Michael ; Gieger, Christian ; Peters, Annette ; Trenkwalder, Claudia ; Högl, Birgit ; Frauscher, Birgit ; Berger, Klaus ; Fietze, Ingo ; Gross, Nadine ; Stiasny-Kolster, Karin ; Oertel, Wolfgang ; Bachmann, Cornelius G ; Paulus, Walter ; Zimprich

PloS one, 2014, Vol.9(5), pp.e98092 [Rivista Peer Reviewed]

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da questo autore/creatore:

  1. Meitinger, Thomas
  2. Gieger, Christian
  3. Peters, Annette
  4. Strauch, Konstantin
  5. Müller-Nurasyid, Martina

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