Anti-HMGCR Myopathy

por Mohassel, Payam, Mammen, Andrew L.
Publicado 2018

Attribution of original contribution in large datasets in the era of multi‐omic studies

por Mohassel, Payam, Guadagnin, Eleonora, Bönnemann, Carsten G.
Publicado 2022

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

por Colasanto, Mary P., Eyal, Shai, Mohassel, Payam, Bamshad, Michael, Bonnemann, Carsten G., Zelzer, Elazar, Moon, Anne M., Kardon, Gabrielle
Publicado 2016

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

por Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas
Publicado 2022

Hypoglycemia in patients with congenital muscle disease

por Hayes, Leslie H., Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E., Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D., Foley, A. Reghan, Bönnemann, Carsten G.
Publicado 2020

Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling

por Pham, Hai T., Kram, Vardit, Dar, Qurratul-Ain, Komori, Taishi, Ji, Youngmi, Mohassel, Payam, Rooney, Jachinta, Li, Li, Kilts, Tina M., Bonnemann, Carsten, Lamande, Shireen, Young, Marian F.
Publicado 2020

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

por Lone, Museer A., Aaltonen, Mari J., Zidell, Aliza, Pedro, Helio F., Morales Saute, Jonas A., Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G., Shoubridge, Eric A., Hornemann, Thorsten
Publicado 2022

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

por Guadagnin, Eleonora, Mohassel, Payam, Johnson, Kory R., Yang, Lin, Santi, Mariarita, Uapinyoying, Prech, Dastgir, Jahannaz, Hu, Ying, Dillmann, Allissa, Cookson, Mark R., Foley, A. Reghan, Bönnemann, Carsten G.
Publicado 2021

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

por Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.
Publicado 2017

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

por Mohassel, Payam, Landon-Cardinal, Océane, Foley, A. Reghan, Donkervoort, Sandra, Pak, Katherine S., Wahl, Colleen, Shebert, Robert T., Harper, Amy, Fequiere, Pierre, Meriggioli, Matthew, Toro, Camilo, Drachman, Daniel, Allenbach, Yves, Benveniste, Olivier, Béhin, Anthony, Eymard, Bruno, Lafôret, Pascal, Stojkovic, Tanya, Mammen, Andrew L., Bönnemann, Carsten G.
Publicado 2018

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

por Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Publicado 2023

Dominant collagen XII mutations cause a distal myopathy

por Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Publicado 2019

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

por Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D., Dunn, Teresa M., Bönnemann, Carsten G., Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria
Publicado 2022

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

por Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.
Publicado 2017

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

por Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul
Publicado 2022

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

por Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.
Publicado 2018