Search Results - Lochmuller, Hanns

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  1. 1
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    Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome by Della Marina, Adela (Author) , Koutsoulidou, Andrie (Author) , Natera-de Benito, Daniel (Author) , Tykocinski, Lars-Oliver (Author) , Tomazou, Marios (Author) , Georgiou, Kristia (Author) , Laner, Andreas (Author) , Kölbel, Heike (Author) , Nascimento, Andres (Author) , Ortez, Carlos (Author) , Abicht, Angela (Author) , Thakur, Basant Kumar (Author) , Lochmüller, Hanns (Author) , Phylactou, Leonidas A. (Author) , Ruck, Tobias (Author) , Schara-Schmidt, Ulrike (Author) , Kale, Dipali (Author) , Hentschel, Andreas (Author) , Roos, Andreas (Author) ,


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  2. 2
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    Clinical effectiveness of newborn screening for spinal muscular atrophy: a nonrandomized controlled trial by Schwartz, Oliver (Author) , Vill, Katharina (Author) , Pfaffenlehner, Michelle (Author) , Behrens, Max (Author) , Weiß, Claudia (Author) , Johannsen, Jessika (Author) , Friese, Johannes (Author) , Hahn, Andreas (Author) , Ziegler, Andreas (Author) , Illsinger, Sabine (Author) , Smitka, Martin (Author) , Moers, Arpad von (Author) , Kölbel, Heike (Author) , Schreiber, Gudrun (Author) , Kaiser, Nadja (Author) , Wilichowski, Ekkehard (Author) , Flotats Bastardas, Marina (Author) , Husain, Ralf (Author) , Baumann, Matthias (Author) , Köhler, Cornelia (Author) , Trollmann, Regina (Author) , Schwerin-Nagel, Annette (Author) , Eisenkölbl, Astrid (Author) , Schimmel, Mareike (Author) , Fleger, Martin (Author) , Kauffmann, Birgit (Author) , Wiegand, Gert (Author) , Baumgartner, Manuela (Author) , Rauschert, Christian (Author) , Cirak, Sebahattin (Author) , Gläser, Dieter (Author) , Bernert, Günther (Author) , Hagenacker, Tim (Author) , Goldbach, Susanne (Author) , Probst-Schendzielorz, Kristina (Author) , Lochmüller, Hanns (Author) , Müller-Felber, Wolfgang (Author) , Schara, Ulrike (Author) , Walter, Maggie C. (Author) , Kirschner, Janbernd (Author) , Pechmann, Astrid (Author) ,


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  3. 3
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    Improvements in walking distance during nusinersen treatment: a prospective 3-year SMArtCARE registry study by Pechmann, Astrid (Author) , Behrens, Max (Author) , Dörnbrack, Katharina (Author) , Tassoni, Adrian (Author) , Wenzel, Franziska (Author) , Stein, Sabine (Author) , Vogt, Sibylle (Author) , Zöller, Daniela (Author) , Bernert, Günther (Author) , Hagenacker, Tim (Author) , Schara-Schmidt, Ulrike (Author) , Walter, Maggie C. (Author) , Steinbach, Meike (Author) , Blaschek, Astrid (Author) , Baumann, Matthias (Author) , Baumgartner, Manuela (Author) , Becker, Benedikt (Author) , Flotats-Bastardas, Marina (Author) , Friese, Johannes (Author) , Günther, Rene (Author) , Hahn, Andreas (Author) , Küpper, Hanna (Author) , Johannsen, Jessika (Author) , Kamm, Christoph (Author) , Koch, Jan Christoph (Author) , Köhler, Cornelia (Author) , Kölbel, Heike (Author) , Kolzter, Kirsten (Author) , von Moers, Arpad (Author) , Nägel, Steffen (Author) , Neuwirth, Christoph (Author) , Petri, Susanne (Author) , Rödiger, Annekathrin (Author) , Schimmel, Mareike (Author) , Schrank, Bertold (Author) , Schreiber, Gudrun (Author) , Smitka, Martin (Author) , Stadler, Christian (Author) , Steiner, Elisabeth (Author) , Stögmann, Eva (Author) , Trollmann, Regina (Author) , Türk, Matthias (Author) , Weiler, Markus (Author) , Stoltenburg, Corinna (Author) , Willichowsky, Ekkehard (Author) , Zeller, Daniel (Author) , Ziegler, Andreas (Author) , Lochmüller, Hanns (Author) , Kirschner, Janbernd (Author) ,


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  4. 4
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    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,


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  5. 5
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    RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases by Lochmüller, Hanns (Author) , Badowska, Dorota M. (Author) , Thompson, Rachel (Author) , Knoers, Nine V. (Author) , Aartsma-Rus, Annemieke (Author) , Gut, Ivo (Author) , Wood, Libby (Author) , Harmuth, Tina (Author) , Durudas, Andre (Author) , Graessner, Holm (Author) , Schaefer, Franz (Author) , Rieß, Olaf (Author) ,


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  6. 6
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    GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice by Issop, Yasmin (Author) , Hathazi, Denisa (Author) , Khan, Muzamil Majid (Author) , Rudolf, Rüdiger (Author) , Weis, Joachim (Author) , Spendiff, Sally (Author) , Slater, Clarke R. (Author) , Roos, Andreas (Author) , Lochmüller, Hanns (Author) ,


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  7. 7
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    The risk of re-identification versus the need to identify individuals in rare disease research by Hansson, Mats G (Author) , Lochmüller, Hanns (Author) , Riess, Olaf (Author) , Schaefer, Franz (Author) , Orth, Michael (Author) , Rubinstein, Yaffa (Author) , Molster, Caron (Author) , Dawkins, Hugh (Author) , Taruscio, Domenica (Author) , Posada, Manuel (Author) , Woods, Simon (Author) ,


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  8. 8
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    Intolerance to β-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy by Bauer, Ralf (Author) , Blain, Alison (Author) , Greally, Elizabeth (Author) , Bushby, Kate (Author) , Lochmüller, Hanns (Author) , Laval, Steve (Author) , Straub, Volker (Author) , MacGowan, Guy A. (Author) ,


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  9. 9
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    Attenuation of adverse cardiac effects in prednisolone-treated δ-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism by Bauer, Ralf (Author) , Blain, Alison (Author) , Greally, Elizabeth (Author) , Lochmüller, Hanns (Author) , Bushby, Kate (Author) , MacGowan, Guy A. (Author) , Straub, Volker (Author) ,


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