Torthaí cuardaigh - Mohassel, Payam

Anti-HMGCR Myopathy de réir Mohassel, Payam, Mammen, Andrew L.

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Attribution of original contribution in large datasets in the era of multi‐omic studies de réir Mohassel, Payam, Guadagnin, Eleonora, Bönnemann, Carsten G.

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Anterior spinal artery syndrome presenting as cervical myelopathy in a patient with subclavian steal syndrome de réir Mohassel, Payam, Wesselingh, Robb, Katz, Zinozy, McArthur, Justin, Gailloud, Philippe

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Expression of the Dermatomyositis Autoantigen TIF1γ in Regenerating Muscle de réir Mohassel, Payam, Rosen, Paul, Casciola-Rosen, Livia, Pak, Katherine, Mammen, Andrew L.

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Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3 de réir Colasanto, Mary P., Eyal, Shai, Mohassel, Payam, Bamshad, Michael, Bonnemann, Carsten G., Zelzer, Elazar, Moon, Anne M., Kardon, Gabrielle

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New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1 de réir Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas

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Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement de réir Hotchkiss, Leslie, Donkervoort, Sandra, Leach, Meganne, Mohassel, Payam, Bharucha-Goebel, Diana X., Bradley, Nathaniel, Nguyen, David, Hu, Ying, Gurgel-Giannetti, Juliana, Bönnemann, Carsten G.

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Hypoglycemia in patients with congenital muscle disease de réir 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.

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

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Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies de réir 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.

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation de réir Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

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

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Genetic regulatory variation in populations informs transcriptome analysis in rare disease de réir Mohammadi, Pejman, Castel, Stephane E., Cummings, Beryl B., Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A. Reghan, Wheeler, Heather E., Kyung Im, Hae, Bonnemann, Carsten G., MacArthur, Daniel G., Lappalainen, Tuuli

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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia de réir Berko, Esther R, Cho, Megan T, Eng, Christine, Shao, Yunru, Sweetser, David A, Waxler, Jessica, Robin, Nathaniel H, Brewer, Fallon, Donkervoort, Sandra, Mohassel, Payam, Bönnemann, Carsten G, Bialer, Martin, Moore, Christine, Wolfe, Lynne A, Tifft, Cynthia J, Shen, Yufeng, Retterer, Kyle, Millan, Francisca, Chung, Wendy K

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Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods de réir Donkervoort, Sandra, Chan, Sophelia H.S., Hayes, Leslie H., Bradley, Nathaniel, Nguyen, David, Leach, Meganne E., Mohassel, Payam, Hu, Ying, Thangarajh, Mathula, Bharucha-Goebel, Diana, Kan, Amanda, Ho, Ronnie S.L., Reyes, Christine A., Nance, Jessica, Moore, Steven A., Foley, A. Reghan, Bönnemann, Carsten G.

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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy de réir 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.

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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye de réir Zou, Yaqun, Donkervoort, Sandra, Salo, Antti M., Foley, A. Reghan, Barnes, Aileen M., Hu, Ying, Makareeva, Elena, Leach, Meganne E., Mohassel, Payam, Dastgir, Jahannaz, Deardorff, Matthew A., Cohn, Ronald D., DiNonno, Wendy O., Malfait, Fransiska, Lek, Monkol, Leikin, Sergey, Marini, Joan C., Myllyharju, Johanna, Bönnemann, Carsten G.

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Dominant collagen XII mutations cause a distal myopathy de réir 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.

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Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants de réir Mohassel, Payam, Chang, Ning, Inoue, Kaoru, Delaney, Angela, Hu, Ying, Donkervoort, Sandra, Saade, Dimah, Billioux, B. Jeanne, Meader, Brooke, Volochayev, Rita, Konersman, Chamindra G., Kaindl, Angela M., Cho, Chie-Hee, Russell, Bianca, Rodriguez, Adrian, Foster, K. Wade, Foley, A. Reghan, Moore, Steven A., Jones, Peter L., Bonnemann, Carsten G., Jones, Takako, Shaw, Natalie D.

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Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium de réir van de Locht, Martijn, Donkervoort, Sandra, de Winter, Josine M., Conijn, Stefan, Begthel, Leon, Kusters, Benno, Mohassel, Payam, Hu, Ying, Medne, Livija, Quinn, Colin, Moore, Steven A., Foley, A. Reghan, Seo, Gwimoon, Hwee, Darren T., Malik, Fady I., Irving, Thomas, Ma, Weikang, Granzier, Henk L., Kamsteeg, Erik-Jan, Immadisetty, Kalyan, Kekenes-Huskey, Peter, Pinto, José R., Voermans, Nicol, Bönnemann, Carsten G., Ottenheijm, Coen A.C.

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