Search Results - author:"Wagner, Matias" OR author2:"Wagner, Matias" OR author_corporate:"Wagner, Matias"

Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany by Lenz, Dominic (Author) , Abdulaziz, Muhammad (Author) , Peters, Bianca (Author) , Wagner, Matias (Author) , Schlieben, Lea D. (Author) , Corman, Victor M. (Author) , Baumann, Ulrich (Author) , Bufler, Philip (Author) , Dattner, Tal (Author) , Ganschow, Rainer (Author) , Genzel, Kristin (Author) , Hammann, Nicole Irene (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Henning, Stephan (Author) , Hoerning, André (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kathemann, Simone (Author) , Knoppke, Birgit (Author) , Kohl-Sobania, Martina (Author) , Laass, Martin (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Melter, Michael (Author) , Müller, Hanna (Author) , Pilic, Denisa (Author) , Ries, Markus (Author) , Schiefele, Lisa (Author) , Schwerd, Tobias (Author) , Sturm, Ekkehard (Author) , Wegner, Mechtild (Author) , Urschitz, Michael S. (Author) , Garbade, Sven (Author) , Wenning, Daniel (Author) , Drosten, Christian (Author) , Fichtner, Alexander (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) , Staufner, Christian (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series by Zhu, Gaofeng (Author) , Didry-Barca, Blaise (Author) , Seabra, Luis (Author) , Rice, Gillian I (Author) , Uggenti, Carolina (Author) , Touimy, Moncef (Author) , Rodero, Mathieu P (Author) , Trapero, Rolando Hernandez (Author) , Bondet, Vincent (Author) , Duffy, Darragh (Author) , Gautier, Philippe (Author) , Livingstone, Katie (Author) , Sutherland, Fraser J H (Author) , Lebon, Pierre (Author) , Parisot, Mélanie (Author) , Bole-Feysot, Christine (Author) , Masson, Cécile (Author) , Cagnard, Nicolas (Author) , Nitschké, Patrick (Author) , Anderson, Glenn (Author) , Assmann, Birgit (Author) , Barth, Magalie (Author) , Boespflug-Tanguy, Odile (Author) , D’Arco, Felice (Author) , Dorboz, Imen (Author) , Giese, Thomas (Author) , Hacohen, Yael (Author) , Hancarova, Miroslava (Author) , Husson, Marie (Author) , Lepine, Anne (Author) , Lim, Ming (Author) , Mancardi, Maria Margherita (Author) , Melki, Isabelle (Author) , Neubauer, David (Author) , Sa, Mario (Author) , Sedlacek, Zdenek (Author) , Seitz, Angelika (Author) , Rottman, Mika Shapiro (Author) , Sanquer, Sylvia (Author) , Straussberg, Rachel (Author) , Vlčková, Markéta (Author) , Villéga, Frédéric (Author) , Wagner, Matias (Author) , Zerem, Ayelet (Author) , Marsh, Joseph A (Author) , Frémond, Marie-Louise (Author) , Kaliakatsos, Marios (Author) , Crow, Yanick J (Author) , El-Daher, Marie-Thérèse (Author) , Lepelley, Alice (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Hepatic form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients by Hammann, Nicole Irene (Author) , Staufner, Christian (Author) , Schlieben, Lea Dewi (Author) , Dezsőfi-Gottl, Antal (Author) , Feichtinger, René G. (Author) , Häberle, Johannes (Author) , Junge, Norman (Author) , Konstantopoulou, Vassiliki (Author) , Kopajtich, Robert (Author) , McLin, Valérie (Author) , Rymen, Daisy (Author) , Slavetinsky, Christoph (Author) , Sturm, Ekkehard (Author) , Mayr, Johannes A. (Author) , Wagner, Matias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Hoffmann, Georg F. (Author) , Lenz, Dominic (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke by Brunet, Theresa (Author) , Zott, Benedikt (Author) , Lieftüchter, Victoria (Author) , Lenz, Dominic (Author) , Schmidt, Axel (Author) , Peters, Philipp (Author) , Kopajtich, Robert (Author) , Zaddach, Malin (Author) , Zimmermann, Hanna (Author) , Hüning, Irina (Author) , Ballhausen, Diana (Author) , Staufner, Christian (Author) , Bianzano, Alyssa (Author) , Hughes, Joanne (Author) , Taylor, Robert W. (Author) , McFarland, Robert (Author) , Devlin, Anita (Author) , Mihaljević, Mihaela (Author) , Barišić, Nina (Author) , Rohlfs, Meino (Author) , Wilfling, Sibylle (Author) , Sondheimer, Neal (Author) , Hewson, Stacy (Author) , Marinakis, Nikolaos M. (Author) , Kosma, Konstantina (Author) , Traeger-Synodinos, Joanne (Author) , Elbracht, Miriam (Author) , Begemann, Matthias (Author) , Trepels-Kottek, Sonja (Author) , Hasan, Dimah (Author) , Scala, Marcello (Author) , Capra, Valeria (Author) , Zara, Federico (Author) , van der Ven, Amelie T. (Author) , Driemeyer, Joenna (Author) , Apitz, Christian (Author) , Krämer, Johannes (Author) , Strong, Alanna (Author) , Hakonarson, Hakon (Author) , Watson, Deborah (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Meitinger, Thomas (Author) , Borggraefe, Ingo (Author) , Spiegler, Juliane (Author) , Baric, Ivo (Author) , Paolini, Marco (Author) , Gerstl, Lucia (Author) , Wagner, Matias (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Genetic landscape of pediatric acute liver failure of indeterminate origin by Lenz, Dominic (Author) , Schlieben, Lea D. (Author) , Shimura, Masaru (Author) , Bianzano, Alyssa (Author) , Smirnov, Dmitrii (Author) , Kopajtich, Robert (Author) , Berutti, Riccardo (Author) , Adam, Rüdiger (Author) , Aldrian, Denise (Author) , Baric, Ivo (Author) , Baumann, Ulrich (Author) , Bozbulut, Neslihan E. (Author) , Brugger, Melanie (Author) , Brunet, Theresa (Author) , Bufler, Philip (Author) , Burnytė, Birutė (Author) , Calvo, Pier L. (Author) , Crushell, Ellen (Author) , Dalgiç, Buket (Author) , Das, Anibh M. (Author) , Dezsőfi, Antal (Author) , Distelmaier, Felix (Author) , Fichtner, Alexander (Author) , Freisinger, Peter (Author) , Garbade, Sven (Author) , Gaspar, Harald (Author) , Goujon, Louise (Author) , Hadzic, Nedim (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Hempel, Maja (Author) , Henning, Stephan (Author) , Hoerning, Andre (Author) , Houwen, Roderick (Author) , Hughes, Joanne (Author) , Iorio, Raffaele (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kanavaki, Ino (Author) , Kansu, Aydan (Author) , Kaspar, Sonja (Author) , Kathemann, Simone (Author) , Kelly, Deidre (Author) , Kirsaçlioğlu, Ceyda T. (Author) , Knoppke, Birgit (Author) , Kohl, Martina (Author) , Kölbel, Heike (Author) , Kölker, Stefan (Author) , Konstantopoulou, Vassiliki (Author) , Krylova, Tatiana (Author) , Kuloğlu, Zarife (Author) , Kuster, Alice (Author) , Laass, Martin W. (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Mandel, Hanna (Author) , Mayerhanser, Katharina (Author) , Mayr, Johannes A. (Author) , McKiernan, Patrick (Author) , McClean, Patricia (Author) , McLin, Valerie (Author) , Mention, Karine (Author) , Müller, Hanna (Author) , Pasquier, Laurent (Author) , Pavlov, Martin (Author) , Pechatnikova, Natalia (Author) , Peters, Bianca (Author) , Petković Ramadža, Danijela (Author) , Piekutowska-Abramczuk, Dorota (Author) , Pilic, Denisa (Author) , Rajwal, Sanjay (Author) , Rock, Nathalie (Author) , Roetig, Agnès (Author) , Santer, René (Author) , Schenk, Wilfried (Author) , Semenova, Natalia (Author) , Sokollik, Christiane (Author) , Sturm, Ekkehard (Author) , Taylor, Robert W. (Author) , Tschiedel, Eva (Author) , Urbonas, Vaidotas (Author) , Urreizti, Roser (Author) , Vermehren, Jan (Author) , Vockley, Jerry (Author) , Vogel, Georg-Friedrich (Author) , Wagner, Matias (Author) , van der Woerd, Wendy (Author) , Wortmann, Saskia B. (Author) , Zakharova, Ekaterina (Author) , Hoffmann, Georg F. (Author) , Meitinger, Thomas (Author) , Murayama, Kei (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Baric, Ivo (Author) , Crushell, Ellen (Author) , Vici, Carlo Dionisi (Author) , Distelmaier, Felix (Author) , Feillet, Francois (Author) , Freisinger, Peter (Author) , Hempel, Maja (Author) , Khoreva, Anna L. (Author) , Laass, Martin W. (Author) , Lacassie, Yves (Author) , Lainka, Elke (Author) , Larson-Nath, Catherine (Author) , Li, Zhongdie (Author) , Lipiński, Patryk (Author) , Lurz, Eberhard (Author) , Mégarbané, André (Author) , Nobre, Susana (Author) , Olivieri, Giorgia (Author) , Peters, Bianca (Author) , Prontera, Paolo (Author) , Schlieben, Lea D. (Author) , Seroogy, Christine M. (Author) , Sobacchi, Cristina (Author) , Suzuki, Shigeru (Author) , Tran, Christel (Author) , Vockley, Jerry (Author) , Wang, Jian-She (Author) , Wagner, Matias (Author) , Prokisch, Holger (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia by Skorvanek, Matej (Author) , Rektorova, Irena (Author) , Mandemakers, Wim (Author) , Wagner, Matias (Author) , Steinfeld, Robert (Author) , Orec, Laura (Author) , Han, Vladimir (Author) , Pavelekova, Petra (Author) , Lackova, Alexandra (Author) , Kulcsarova, Kristina (Author) , Ostrozovicova, Miriam (Author) , Gdovinova, Zuzana (Author) , Plecko, Barbara (Author) , Brunet, Theresa (Author) , Berutti, Riccardo (Author) , Kuipers, Demy J. S. (Author) , Boumeester, Valerie (Author) , Havrankova, Petra (Author) , Tijssen, M. A. J. (Author) , Kaiyrzhanov, Rauan (Author) , Rizig, Mie (Author) , Houlden, Henry (Author) , Winkelmann, Juliane (Author) , Bonifati, Vincenzo (Author) , Zech, Michael (Author) , Jech, Robert (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (Author) , Boltshauser, Eugen (Author) , Palmieri, Luigi (Author) , Spenger, Johannes (Author) , Brunner-Krainz, Michaela (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Geis, Tobias (Author) , Gropman, Andrea L. (Author) , Häberle, Johannes (Author) , Hentschel, Julia (Author) , Jeandidier, Bruno (Author) , Karall, Daniela (Author) , Keren, Boris (Author) , Klabunde-Cherwon, Annick (Author) , Konstantopoulou, Vassiliki (Author) , Kottke, Raimund (Author) , Lasorsa, Francesco M. (Author) , Makowski, Christine (Author) , Mignot, Cyril (Author) , O’Gorman Tuura, Ruth (Author) , Porcelli, Vito (Author) , Santer, René (Author) , Sen, Kuntal (Author) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

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) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M. (Author) , VanCoillie, Rachel (Author) , Vansickle, Elizabeth A. (Author) , Carere, Deanna Alexis (Author) , Withrow, Kara (Author) , Torti, Erin (Author) , Juusola, Jane (Author) , Millan, Francisca (Author) , Person, Richard (Author) , Guillen Sacoto, Maria J. (Author) , Si, Yue (Author) , Wentzensen, Ingrid M. (Author) , Pugh, Jada (Author) , Vasileiou, Georgia (Author) , Rieger, Melissa (Author) , Reis, André (Author) , Argilli, Emanuela (Author) , Sherr, Elliott H. (Author) , Aldinger, Kimberly A. (Author) , Dobyns, William B. (Author) , Brunet, Theresa (Author) , Hoefele, Julia (Author) , Wagner, Matias (Author) , Haber, Benjamin (Author) , Kotzaeridou, Urania (Author) , Keren, Boris (Author) , Heron, Delphine (Author) , Mignot, Cyril (Author) , Heide, Solveig (Author) , Courtin, Thomas (Author) , Buratti, Julien (Author) , Murugasen, Serini (Author) , Donald, Kirsten A. (Author) , O’Heir, Emily (Author) , Moody, Shade (Author) , Kim, Katherine H. (Author) , Burton, Barbara K. (Author) , Yoon, Grace (Author) , Campo, Miguel del (Author) , Masser-Frye, Diane (Author) , Kozenko, Mariya (Author) , Parkinson, Christina (Author) , Sell, Susan L. (Author) , Gordon, Patricia L. (Author) , Prokop, Jeremy W. (Author) , Karaa, Amel (Author) , Bupp, Caleb (Author) , Raby, Benjamin A. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

A reverse genetics and genomics approach to gene paralog function and disease: myokymia and the juxtaparanode by Marafi, Dana (Author) , Kozar, Nina (Author) , Duan, Ruizhi (Author) , Bradley, Stephen (Author) , Yokochi, Kenji (Author) , Al Mutairi, Fuad (Author) , Saadi, Nebal Waill (Author) , Whalen, Sandra (Author) , Brunet, Theresa (Author) , Kotzaeridou, Urania (Author) , Choukair, Daniela (Author) , Keren, Boris (Author) , Nava, Caroline (Author) , Kato, Mitsuhiro (Author) , Arai, Hiroshi (Author) , Froukh, Tawfiq (Author) , Faqeih, Eissa Ali (Author) , AlAsmari, Ali M. (Author) , Saleh, Mohammed M. (Author) , Pinto e Vairo, Filippo (Author) , Pichurin, Pavel N. (Author) , Klee, Eric W. (Author) , Schmitz, Christopher T. (Author) , Grochowski, Christopher M. (Author) , Mitani, Tadahiro (Author) , Herman, Isabella (Author) , Calame, Daniel G. (Author) , Fatih, Jawid M. (Author) , Du, Haowei (Author) , Coban-Akdemir, Zeynep (Author) , Pehlivan, Davut (Author) , Jhangiani, Shalini N. (Author) , Gibbs, Richard A. (Author) , Miyatake, Satoko (Author) , Matsumoto, Naomichi (Author) , Wagstaff, Laura J. (Author) , Posey, Jennifer E. (Author) , Lupski, James R. (Author) , Meijer, Dies (Author) , Wagner, Matias (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder by Brugger, Melanie (Author) , Brunet, Theresa (Author) , Wagner, Matias (Author) , Orec, Laura (Author) , Schwaibold, Eva (Author) , Boy, Nikolas (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy by Itai, Toshiyuki (Author) , Hamanaka, Kohei (Author) , Sasaki, Kazunori (Author) , Wagner, Matias (Author) , Kotzaeridou, Urania (Author) , Brösse, Ines (Author) , Ries, Markus (Author) , Kobayashi, Yu (Author) , Tohyama, Jun (Author) , Kato, Mitsuhiro (Author) , Ong, Winnie P. (Author) , Chew, Hui B. (Author) , Rethanavelu, Kavitha (Author) , Ranza, Emmanuelle (Author) , Blanc, Xavier (Author) , Uchiyama, Yuri (Author) , Tsuchida, Naomi (Author) , Fujita, Atsushi (Author) , Azuma, Yoshiteru (Author) , Koshimizu, Eriko (Author) , Mizuguchi, Takeshi (Author) , Takata, Atsushi (Author) , Miyake, Noriko (Author) , Takahashi, Hidehisa (Author) , Miyagi, Etsuko (Author) , Tsurusaki, Yoshinori (Author) , Doi, Hiroshi (Author) , Taguri, Masataka (Author) , Antonarakis, Stylianos E. (Author) , Nakashima, Mitsuko (Author) , Saitsu, Hirotomo (Author) , Miyatake, Satoko (Author) , Matsumoto, Naomichi (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

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) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Early-onset phenotype of bi-allelic GRN mutations by Neuray, Caroline (Author) , Sultan, Tipu (Author) , Alvi, Javeira Raza (Author) , Franca, Marcondes C, Jr (Author) , Assmann, Birgit (Author) , Wagner, Matias (Author) , Canafoglia, Laura (Author) , Franceschetti, Silvana (Author) , Rossi, Giacomina (Author) , Santana, Isabel (Author) , Macario, Maria C (Author) , Almeida, Maria R (Author) , Kamate, Mahesh (Author) , Parikh, Sumit (Author) , Elloumi, Houda Zghal (Author) , Murphy, David (Author) , Efthymiou, Stephanie (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) ,

• Verlag, lizenzpflichtig, Volltext

Biotinidase deficiency: a treatable cause of hereditary spastic paraparesis by Radelfahr, Florentine (Author) , Riedhammer, Korbinian M. (Author) , Keidel, Leonie F. (Author) , Gramer, Gwendolyn (Author) , Meitinger, Thomas (Author) , Klopstock, Thomas (Author) , Wagner, Matias (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants by Lenz, Dominic (Author) , Stahl, Mirjam (Author) , Seidl, Elias (Author) , Schöndorf, Dominik (Author) , Brennenstuhl, Heiko (Author) , Gesenhues, Florian (Author) , Heinzmann, Tina Maria (Author) , Longerich, Thomas (Author) , Mendes, Marisa I. (Author) , Prokisch, Holger (Author) , Salomons, Gajja S. (Author) , Schön, Carola (Author) , Smith, Desirée E. C. (Author) , Sommerburg, Olaf (Author) , Wagner, Matias (Author) , Westhoff, Jens (Author) , Reiter, Karl (Author) , Staufner, Christian (Author) , Griese, Matthias (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review by Kotzaeridou, Urania (Author) , Young-Baird, Sara K. (Author) , Suckow, Vanessa (Author) , Thornburg, Alexis G. (Author) , Wagner, Matias (Author) , Harting, Inga (Author) , Christ, Stine (Author) , Strom, Tim (Author) , Dever, Thomas E. (Author) , Kalscheuer, Vera M. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext