TRIM32 regulates skeletal muscle stem cell differentiation and is necessary for normal adult muscle regeneration
Nicklas, Sarah, Otto, Anthony, Wu, Xiaoli, Miller, Pamela, Stelzer, Sandra, Wen, Yefei, Kuang, Shihuan, Wrogemann, Klaus, Patel, Ketan, Ding, Hao, Schwamborn, Jens C
Published in PloS one (27.01.2012)
Published in PloS one (27.01.2012)
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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome
Armistead, Joy, Khatkar, Sunita, Meyer, Britta, Mark, Brian L., Patel, Nehal, Coghlan, Gail, Lamont, Ryan E., Liu, Shuangbo, Wiechert, Jill, Cattini, Peter A., Koetter, Peter, Wrogemann, Klaus, Greenberg, Cheryl R., Entian, Karl-Dieter, Zelinski, Teresa, Triggs-Raine, Barbara
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Journal Article
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
Poppe, Maja, Bourke, John, Eagle, Michelle, Frosk, Patrick, Wrogemann, Klaus, Greenberg, Cheryl, Muntoni, Francesco, Voit, Thomas, Straub, Volker, Hilton-Jones, David, Shirodaria, Cheerag, Bushby, Kate
Published in Annals of neurology (01.11.2004)
Published in Annals of neurology (01.11.2004)
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Journal Article
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Published in The HUGO journal (01.12.2009)
Published in The HUGO journal (01.12.2009)
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
NAJMABADI, Hossein, HAO HU, ZECHA, Agnes, MOHSENI, Marzieh, PUTTMANN, Lucia, LEYLA NOURI VAHID, JENSEN, Corinna, LIA ABBASI MOHEB, BIENEK, Melanie, LARTI, Farzaneh, MUELLER, Ines, WEISSMANN, Robert, GARSHASBI, Masoud, DARVISH, Hossein, WROGEMANN, Klaus, HADAVI, Valeh, LIPKOWITZ, Bettina, ESMAEELI-NIEH, Sahar, WIECZOREK, Dagmar, KARIMINEJAD, Roxana, SAGHAR GHASEMI FIROUZABADI, COHEN, Monika, FATTAHI, Zohreh, ZEMOJTEL, Tomasz, ROST, Imma, MOJAHEDI, Faezeh, HERTZBERG, Christoph, DEHGHAN, Atefeh, RAJAB, Anna, MOHAMMAD JAVAD SOLTANI BANAVANDI, HOFFER, Julia, FALAH, Masoumeh, MUSANTE, Luciana, KALSCHEUER, Vera, SEYEDEH SEDIGHEH ABEDINI, ULLMANN, Reinhard, WALTER KUSS, Andreas, TZSCHACH, Andreas, KAHRIZI, Kimia, ROPERS, H. Hilger, WEI CHEN, HOSSEINI, Masoumeh, BEHJATI, Farkhondeh, HAAS, Stefan, JAMALI, Payman
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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Journal Article
The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations
Frosk, Patrick, Greenberg, Cheryl R., Tennese, Alysa A.P., Lamont, Ryan, Nylen, Edward, Hirst, Cheryl, Frappier, Danielle, Roslin, Nicole M., Zaik, Michaela, Bushby, Kate, Straub, Volker, Zatz, Mayana, de Paula, Flavia, Morgan, Kenneth, Fujiwara, T. Mary, Wrogemann, Klaus
Published in Human mutation (01.01.2005)
Published in Human mutation (01.01.2005)
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The Interaction of Piasy with Trim32, an E3-Ubiquitin Ligase Mutated in Limb-girdle Muscular Dystrophy Type 2H, Promotes Piasy Degradation and Regulates UVB-induced Keratinocyte Apoptosis through NFκB
Albor, Amador, El-Hizawi, Sally, Horn, Elizabeth J., Laederich, Melanie, Frosk, Patrick, Wrogemann, Klaus, Kulesz-Martin, Molly
Published in The Journal of biological chemistry (01.09.2006)
Published in The Journal of biological chemistry (01.09.2006)
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Journal Article
Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene
Frosk, Patrick, Weiler, Tracey, Nylen, Edward, Sudha, Thangirala, Greenberg, Cheryl R., Morgan, Kenneth, Fujiwara, T. Mary, Wrogemann, Klaus
Published in American journal of human genetics (01.03.2002)
Published in American journal of human genetics (01.03.2002)
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Journal Article
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H
Schoser, Benedikt G. H., Frosk, Patrick, Engel, Andrew G., Klutzny, Ursula, Lochmüller, Hanns, Wrogemann, Klaus
Published in Annals of neurology (01.04.2005)
Published in Annals of neurology (01.04.2005)
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Journal Article
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H
Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Hagen, Maja von der, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J, Schoser, Benedikt
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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Journal Article
Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability
Strobl‐Wildemann, Gertrud, Kalscheuer, Vera M., Hu, Hao, Wrogemann, Klaus, Ropers, Hans‐Hilger, Tzschach, Andreas
Published in American journal of medical genetics. Part A (01.12.2011)
Published in American journal of medical genetics. Part A (01.12.2011)
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Journal Article
Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)
Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus
Published in Human molecular genetics (01.05.1999)
Published in Human molecular genetics (01.05.1999)
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Journal Article
The Interaction of Piasy with Trim32, an E3-Ubiquitin Ligase Mutated in Limb-girdle Muscular Dystrophy Type 2H, Promotes Piasy Degradation and Regulates UVB-induced Keratinocyte Apoptosis through NFκB
Amador Albor, Sally El-Hizawi, Elizabeth J. Horn, Melanie Laederich, Patrick Frosk, Klaus Wrogemann, Molly Kulesz-Martin
Published in The Journal of biological chemistry (01.09.2006)
Published in The Journal of biological chemistry (01.09.2006)
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Journal Article
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB
Albor, Amador, El-Hizawi, Sally, Horn, Elizabeth J, Laederich, Melanie, Frosk, Patrick, Wrogemann, Klaus, Kulesz-Martin, Molly
Published in The Journal of biological chemistry (01.09.2006)
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Published in The Journal of biological chemistry (01.09.2006)
Journal Article
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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Journal Article
A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus
Weiler, Tracey, Greenberg, Cheryl R., Zelinski, Teresa, Nylen, Edward, Coghlan, Gail, Crumley, M. Joyce, Fujiwara, T. Mary, Morgan, Kenneth, Wrogemann, Klaus
Published in American journal of human genetics (01.07.1998)
Published in American journal of human genetics (01.07.1998)
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