Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

by Della Marina, Adela, Wibbeler, Eva, Abicht, Angela, Kölbel, Heike, Lochmüller, Hanns, Roos, Andreas, Schara, Ulrike
Published in Frontiers in human neuroscience

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

by Núñez-Carpintero, Iker, Rigau, Maria, Bosio, Mattia, O'Connor, Emily, Spendiff, Sally, Azuma, Yoshiteru, Topf, Ana, Thompson, Rachel, 't Hoen, Peter A C, Chamova, Teodora, Tournev, Ivailo, Guergueltcheva, Velina, Laurie, Steven, Beltran, Sergi, Capella-Gutiérrez, Salvador, Cirillo, Davide, Lochmüller, Hanns, Valencia, Alfonso
Published in Nature communications

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

by Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns
Published in Journal of neurology

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

by De Palma, Sara, Capitanio, Daniele, Vasso, Michele, Braghetta, Paola, Scotton, Chiara, Bonaldo, Paolo, Lochmüller, Hanns, Muntoni, Francesco, Ferlini, Alessandra, Gelfi, Cecilia
Published in Journal of proteome research

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

by van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Published in Brain (London, England : 1878)

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Published in European journal of human genetics : EJHG

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

by Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita
Published in Brain (London, England : 1878)

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

by Kakouri, Andrea C., Koutalianos, Demetris, Koutsoulidou, Andrie, Oulas, Anastasis, Tomazou, Marios, Nikolenko, Nikoletta, Turner, Chris, Roos, Andreas, Lusakowska, Anna, Janiszewska, Katarzyna, Papadimas, George K., Papadopoulos, Constantinos, Kararizou, Evangelia, Papanicolaou, Eleni Zamba, Gorman, Grainne, Lochmüller, Hanns, Spyrou, George M., Phylactou, Leonidas A.
Published in RNA biology

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

by Van Haute, Lindsey, O'Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S, Ziegler, Alban, Thorburn, David R, Stroud, David A, Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, Horvath, Rita
Published in Nature communications

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

by Boczonadi, Veronika, Meyer, Kathrin, Gonczarowska-Jorge, Humberto, Griffin, Helen, Roos, Andreas, Bartsakoulia, Marina, Bansagi, Boglarka, Ricci, Giulia, Palinkas, Fanni, Zahedi, René P, Bruni, Francesco, Kaspar, Brian, Lochmüller, Hanns, Boycott, Kym M, Müller, Juliane S, Horvath, Rita
Published in Human molecular genetics

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C

by Cipriani, Silvia, Phan, Vietxuan, Médard, Jean-Jacques, Horvath, Rita, Lochmüller, Hanns, Chrast, Roman, Roos, Andreas, Spendiff, Sally
Published in International journal of molecular sciences

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

by Evangelista, Teresinha, Weihl, Conrad C., Kimonis, Virginia, Lochmüller, Hanns, Clemen, Christoph, Deshaies, Ray, Evangelista, Teresinha, Eymard, Bruno, Greensmith, Linda, Hilton-Jones, David, Kimonis, Virginia, Kley, Rudy, Lochmüller, Hanns, Meyer, Hemmo, Mozaffar, Tahseen, Noguchi, Satoru, Ralston, Stuart, Ridha, Basil, Udd, Bjarne, Weihl, Conrad, Brumhard, Matthias, Brumhard, Sarah
Published in Neuromuscular disorders : NMD

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

by Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Published in Orphanet journal of rare diseases

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

by Wood, Libby, Cordts, Isabell, Atalaia, Antonio, Marini-Bettolo, Chiara, Maddison, Paul, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Hammans, Simon, Straub, Volker, Petty, Richard, Orrell, Richard, Monckton, Darren G., Nikolenko, Nikoletta, Jimenez-Moreno, Aura Cecilia, Thompson, Rachel, Hilton-Jones, David, Turner, Chris, Lochmüller, Hanns
Published in Journal of neurology

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

by Phan, Vietxuan, Cox, Dan, Cipriani, Silvia, Spendiff, Sally, Buchkremer, Stephan, O'Connor, Emily, Horvath, Rita, Goebel, Hans Hilmar, Hathazi, Denisa, Lochmüller, Hanns, Straka, Tatjana, Rudolf, Rüdiger, Weis, Joachim, Roos, Andreas
Published in Neurobiology of disease

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

by Unger, Andreas, Beckendorf, Lisa, Böhme, Pierre, Kley, Rudolf, von Frieling-Salewsky, Marion, Lochmüller, Hanns, Schröder, Rolf, Fürst, Dieter O, Vorgerd, Matthias, Linke, Wolfgang A
Published in Acta neuropathologica communications

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

by Shields, Mallory C, Bowers, Matthew R, Fulcer, McKenzie M, Bollig, Madelyn K, Rock, Patrick J, Sutton, Bryan R, Vrailas-Mortimer, Alysia D, Lochmüller, Hanns, Whittaker, Roger G, Horvath, Rita, Reist, Noreen E
Published in PloS one

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

by Signorelli, Mirko, Ayoglu, Burcu, Johansson, Camilla, Lochmüller, Hanns, Straub, Volker, Muntoni, Francesco, Niks, Erik, Tsonaka, Roula, Persson, Anja, Aartsma‐Rus, Annemieke, Nilsson, Peter, Al‐Khalili Szigyarto, Cristina, Spitali, Pietro
Published in Journal of cachexia, sarcopenia and muscle

Therapeutic Strategies in Congenital Myasthenic Syndromes

by Schara, Ulrike, Lochmüller, Hanns
Published in Neurotherapeutics

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

by Chiu, Yen-Hui, Hornsey, Mark A., Klinge, Lars, Jørgensen, Louise H., Laval, Steven H., Charlton, Richard, Barresi, Rita, Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Published in Human molecular genetics