Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy von Compton, Alison G., Albrecht, Douglas E., Seto, Jane T., Cooper, Sandra T., Ilkovski, Biljana, Jones, Kristi J., Challis, Daniel, Mowat, David, Ranscht, Barbara, Bahlo, Melanie, Froehner, Stanley C., North, Kathryn N.

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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone von Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.

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Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy von Moore, Ursula, Jacobs, Marni, Fernandez-Torron, Roberto, LLauger Rossello, Jaume, Smith, Fiona E, James, Meredith, Mayhew, Anna, Rufibach, Laura, Carlier, Pierre G, Blamire, Andrew M, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker, Diaz-Manera, Jordi

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Navigating an Uninformative Genomic Test Result: A Practical Guide von St Clair, Laura, Wong, Claire, Elliot, Christopher, Jones, Kristi J, Shah, Margit, Josephi-Taylor, Sarah, Sandaradura, Sarah, Adès, Lesley, Smith, Janine, Sachdev, Rani, Ma, Alan

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New and developing therapies in spinal muscular atrophy von Kariyawasam, Didu, Carey, Kate A., Jones, Kristi J., Farrar, Michelle A.

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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency von Gallon, Richard, Phelps, Rachel, Hayes, Christine, Brugieres, Laurence, Guerrini-Rousseau, Léa, Colas, Chrystelle, Muleris, Martine, Ryan, Neil A.J., Evans, D. Gareth, Grice, Hannah, Jessop, Emily, Kunzemann-Martinez, Annabel, Marshall, Lilla, Schamschula, Esther, Oberhuber, Klaus, Azizi, Amedeo A., Baris Feldman, Hagit, Beilken, Andreas, Brauer, Nina, Brozou, Triantafyllia, Dahan, Karin, Demirsoy, Ugur, Florkin, Benoît, Foulkes, William, Januszkiewicz-Lewandowska, Danuta, Jones, Kristi J., Kratz, Christian P., Lobitz, Stephan, Meade, Julia, Nathrath, Michaela, Pander, Hans-Jürgen, Perne, Claudia, Ragab, Iman, Ripperger, Tim, Rosenbaum, Thorsten, Rueda, Daniel, Sarosiek, Tomasz, Sehested, Astrid, Spier, Isabel, Suerink, Manon, Zimmermann, Stefanie-Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Wimmer, Katharina, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant von Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., Cooper, Sandra T.

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Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis von Gonzalez, Tina, McLean, Alison, Fleming, Jane, Morris, Katrina, Pacque, Melissa, Forwood, Caitlin, Wong, Claire, Siow, Sue-Faye, Barter, Sarah, Jones, Kristi J, Drummond, Katharine, Berman, Yemima

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Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants von Jones, Hannah F, Bryen, Samantha J, Waddell, Leigh B, Bournazos, Adam, Davis, Mark, Farrar, Michelle A, McLean, Catriona A, Mowat, David R, Sampaio, Hugo, Woodcock, Ian R, Ryan, Monique M, Jones, Kristi J, Cooper, Sandra T

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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine von Ma, Alan, Newing, Timothy P, O'Shea, Rosie, Gokoolparsadh, Akira, Murdoch, Emma, Hayward, Janette, Shannon, Gillian, Kevin, Lucy, Bennetts, Bruce, Ho, Gladys, Smith, Janine, Shah, Margit, Jones, Kristi J, Josephi‐Taylor, Sarah, Sandaradura, Sarah A, Adès, Lesley, Jamieson, Robyn, Rankin, Nicole M

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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale von Jacobs, Marni B., James, Meredoith K., Lowes, Linda P., Alfano, Lindsay N., Eagle, Michelle, Muni Lofra, Robert, Moore, Ursula, Feng, Jia, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa‐Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sanchez‐Aguilera Práxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Guglieri, Michela, Hogrel, Jean‐Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Díaz‐Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Mayhew, Anna G., Straub, Volker

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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain von Righetti, Sarah, Allcock, Richard J.N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B.P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.

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L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial von Vasiljevski, Emily R., Burns, Joshua, Bray, Paula, Donlevy, Gabrielle, Mudge, Anita J., Jones, Kristi J., Summers, Matthew A., Biggin, Andrew, Munns, Craig F., McKay, Marnee J., Baldwin, Jennifer N., Little, David G., Schindeler, Aaron

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A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre von Wong, Wui-Kwan, Bryen, Samantha J, Bournazos, Adam, Yasa, Joe, Lemckert, Frances, Bommireddipall, Shobhana, Waddell, Leigh B, Menezes, Manoj P, Webster, Richard, Davis, Mark, Liang, Christina, Cooper, Sandra T, Jones, Kristi J

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Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease von Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Straub, Volker

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Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern von Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M., Carlier, Pierre G., Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Díaz-Manera, Jordi

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Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study von Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker

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Spinal muscular atrophy: A modifiable disease emerges von Fitzgerald, Dominic A., Abel, Francois, Jones, Kristi J., Farrar, Michelle A.

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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders von Ji, Charli, Kariyawasam, Didu S., Sampaio, Hugo, Lorentzos, Michelle, Jones, Kristi J., Farrar, Michelle A.

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Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy von Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K., Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G., Mori-Yoshimura, Madoka, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Diaz-Manera, Jordi, Straub, Volker

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