Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Authors: De Winter, Jonathan ^{1, 2, 3}, Van de Vondel, Liedewei ^{1, 2}, Ermanoska, Biljana ^{1, 2}, Monticelli, Alice ^{1, 2}, Isapof, Arnaud ⁴, Cohen, Enzo ⁵, Stojkovic, Tanya ^{5, 6}, Hackman, Peter ⁷, Johari, Mridul ^{7, 8}, Palmio, Johanna ⁹, Waldrop, Megan A. ^{10, 11}, Meyer, Alayne P. ^{10, 12}, Nicolau, Stefan ^{10, 13}, Flanigan, Kevin M. ^{10, 11}, Töpf, Ana ¹⁴, Diaz-Manera, Jordi ¹⁴, Straub, Volker ¹⁴, Longman, Cheryl ¹⁵, McWilliam, Catherine A. ¹⁵, Orbach, Rotem ¹⁶, Verma, Sumit ¹⁷, Laine, Regina ¹⁸, Donkervoort, Sandra ¹⁶, Bonnemann, Carsten G. ¹⁶, Rebelo, Adriana ¹⁹, Züchner, Stephan ¹⁹, Grider, Tiffany ²⁰, Shy, Michael E. ²⁰, Maystadt, Isabelle ^{21, 22}, Demurger, Florence ²³, Cairns, Anita ²⁴, Beecroft, Sarah ²⁵, Folland, Chiara ⁸, De Ridder, Willem ^{1, 2, 3}, Ravenscroft, Gina ⁸, Bonne, Gisèle ⁵, Udd, Bjarne ^{7, 9}, Baets, Jonathan ^{1, 2, 3, ∗}

Source: In Genetics in Medicine February 2025

Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy

Authors: Schiava, Marianela ^{a, b}, Bourke, John P ^{a, b}, Díaz-Manera, Jordi ^{a, b}, Johnson, Anna ^b, Elseed, Maha A ^{a, b}, Tasca, Giorgio ^{a, b}, Kadhim, Kadhim ^b, Straub, Volker ^{a, b}, Bettolo, Chiara Marini ^{a, b}, Guglieri, Michela ^{a, b, ⁎}

Source: In Neuromuscular Disorders January 2025 46

Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials

Authors: Díaz-Manera, Jordi ^{a, ⁎}, Hughes, Derralynn ^b, Erdem-Özdamar, Sevim ^c, Tard, Céline ^d, Béhin, Anthony ^e, Bouhour, Françoise ^f, Davison, James ^{g, m}, Hahn, Si Houn ^h, Haack, Kristina An ⁱ, Huynh-Ba, Olivier ⁱ, Periquet, Magali ^{j, 1}, Tammireddy, Swathi ^k, Thibault, Nathan ^k, Zhou, Tianyue ^k, van der Ploeg, Ans T. ^l

Source: In Molecular Genetics and Metabolism December 2024 143(4)

Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy

Authors: Schiava, Marianela, Lofra, Robert Muni, Bourke, John P., James, Meredith K., Díaz-Manera, Jordi, Elseed, Maha A., Michel-Sodhi, Jassi, Moat, Dionne, Mccallum, Michelle, Mayhew, Anna, Ghimenton, Elisabetta, Díaz, Carla Florencia Bolaño, Malinova, Monika, Wong, Karen, Richardson, Mark, Tasca, Giorgio, Grover, Emma, Robinson, Emma-Jayne, Tanner, Stephanie, Eglon, Gail, Behar, Laura, Eagle, Michelle, Turner, Catherine, Verdú-Díaz, José, Heslop, Emma, Straub, Volker, Bettolo, Chiara Marini, Guglieri, Michela

Source: In Neuromuscular Disorders August 2024 41:8-19

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial

Authors: Tawil, Rabi ^*, Wagner, Kathryn R ^*, Hamel, Johanna I, Leung, Doris G, Statland, Jeffrey M, Wang, Leo H, Genge, Angela, Sacconi, Sabrina, Lochmüller, Hanns, Reyes-Leiva, David, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Muelas, Nuria, Vilchez, Juan J, Pestronk, Alan, Gibson, Summer, Goyal, Namita A, Hayward, Lawrence J, Johnson, Nicholas, LoRusso, Samantha, Freimer, Miriam, Shieh, Perry B, Subramony, S H, van Engelen, Baziel, Kools, Joost, Leinhard, Olof Dahlqvist, Widholm, Per, Morabito, Christopher, Moxham, Christopher M, Cadavid, Diego, Mellion, Michelle L, Odueyungbo, Adefowope, Tracewell, William G, Accorsi, Anthony, Ronco, Lucienne, Gould, Robert J, Shoskes, Jennifer, Rojas, Luis Alejandro, Jiang, John G ^*

Source: In The Lancet Neurology May 2024 23(5):477-486

Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases

Authors: Bolano-Diaz, Carla, Verdú-Díaz, José, Gonzalez-Chamorro, Alejandro, Fitzsimmons, Sam, Veeranki, Gopi, Straub, Volker, Diaz-Manera, Jordi

Source: In Neuromuscular Disorders January 2024 34:54-60

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Authors: Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi

Source: In Neuromuscular Disorders January 2024 34:1-8

Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases

Authors: Moore, Ursula, Emmons, Sarah Shira, Rufibach, Laura, Straub, V, Diaz-Manera, Jordi, Guglieri, Michela

Source: NEUROMUSCULAR DISORDERS. 33(3):241-249

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185019595.0x000001&indx=1&recIds=ETOCvdc_100185019595.0x000001

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Authors: Roy, Bhaskar, Peck, Allison, Evangelista, Teresinha, Pfeffer, Gerald, Wang, Leo, Diaz‐Manera, Jordi, Korb, Manisha, Wicklund, Matthew P., Milone, Margherita, Freimer, Miriam, Kushlaf, Hani, Villar‐Quiles, Rocio‐Nur, Stojkovic, Tanya, Needham, Merrilee, Palmio, Johanna, Lloyd, Thomas E., Keung, Benison, Mozaffar, Tahseen, Weihl, Conrad Chris, Kimonis, Virginia

Source: Annals of clinical and translational neurology. 10(5):686-695

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182608533.0x000001&indx=1&recIds=ETOCvdc_100182608533.0x000001

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

Authors: 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

Source: NEUROMUSCULAR DISORDERS. 33(2):199-207

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181219545.0x000001&indx=1&recIds=ETOCvdc_100181219545.0x000001

265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

Authors: Monforte, Mauro, Attarian, Shahram, Vissing, John, Diaz-Manera, Jordi, Tasca, Giorgio

Source: NEUROMUSCULAR DISORDERS. 33(1):65-75

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181261191.0x000001&indx=1&recIds=ETOCvdc_100181261191.0x000001

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Authors: Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M., Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M., Rojas-García, Ricard, Díaz-Manera, Jordi

Source: In Neuromuscular Disorders October 2023 33(10):744-753

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

Authors: 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

Source: In Neuromuscular Disorders April 2023 33(4):349-357

Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey

Authors: Díaz-Manera, Jordi, Urtizberea, J. Andoni, Schey, Carina, Kole, Anna, von Gallwitz, Philipp, Whiting, Amy, Foerster, Douglas, Zozulya-Weidenfeller, Alla

Source: In Neuromuscular Disorders February 2023 33(2):208-217

Water T2 could predict functional decline in patients with dysferlinopathy

Authors: Moore, Ursula, Caldas de Almeida Araújo, Ericky, Reyngoudt, Harmen, Gordish‐Dressman, Heather, Smith, Fiona E., Wilson, Ian, James, Meredith, Mayhew, Anna, Rufibach, Laura, 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, Blamire, Andrew M., Straub, Volker, Carlier, Pierre G., Diaz‐Manera, Jordi

Source: Journal of cachexia, sarcopenia and muscle. 13(6):2888-2897

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175783275.0x000001&indx=1&recIds=ETOCvdc_100175783275.0x000001

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Authors: Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus

Source: Annals of neurology. 92(5):793-806

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163103887.0x000001&indx=1&recIds=ETOCvdc_100163103887.0x000001

Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Authors: 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

Source: Muscle & nerve. 65(5):531-540

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154595912.0x000001&indx=1&recIds=ETOCvdc_100154595912.0x000001

BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients

Authors: Carrasco-Rozas, Ana, Fernández-Simón, Esther, Suárez-Calvet, Xavier, Piñol-Jurado, Patricia, Alonso-Pérez, Jorge, de Luna, Noemí, Schoser, Benedikt, Meinke, Peter, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Paradas, Carmen, Rivas, Eloy, Illa, Isabel, Olivé, Montse, Gallardo, Eduard, Díaz-Manera, Jordi

Source: In The American Journal of Pathology August 2022 192(8):1151-1166

Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al.

Authors: Kruijshaar, Michelle E., House, Tiffany, Schoser, Benedikt, Laforêt, Pascal, Theunissen, Maudy T. M., Wenninger, Stephan, Hundsberger, Thomas, Diaz-Manera, Jordi, van der Ploeg, Ans T., van der Beek, Nadine A. M. E.

Source: Orphanet Journal of Rare Diseases; 2/14/2025, Vol. 20 Issue 1, p1-4, 4p

Subject Terms: RARE diseases, PATIENT advocacy, ACQUISITION of data, GLYCOGEN storage disease type II, DATA management, STRATEGIC alliances (Business), EMPIRICAL research

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using ²³Na‐MRI in Dysferlinopathy and Healthy Controls.

Authors: Neal, Mary A., Bolano‐Diaz, Carla F., Richardson, Mark, Michell‐Sodhi, Jassi, Muni‐Lofra, Robert, James, Meredith K., Hollingsworth, Kieren G., Hilsden, Heather, Wilson, Ian, Blamire, Andrew M., Straub, Volker, Thelwall, Peter E., Diaz‐Manera, Jordi

Source: Journal of Cachexia, Sarcopenia & Muscle; Feb2025, Vol. 16 Issue 1, p1-13, 13p