Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Authors: Ridout, Deborah, Muntoni, Francesco, Manzur, Adnan., Quinlivan, Rosaline, Baranello, Giovanni, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, Milev, Evelin, Wolfe, Adrian, O'Reilly, Emer, Straub, Volker, Guglieri, Michela, Bettolo, Chiara, Muni-Lofra, Robert, James, Meredith, Sodhi, Jassi, Willis, Tracey, Wright, Elizabeth, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Spinty, Stefan, Madhu, Rajesh, Karuvattil, Rajesh, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Vanegas, Maria, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma., Warner, Sinead, Reading, Emily, Benson, Lucy., Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Atherton, Mark, Durso, Sarah, White, Kay, Hinde, Neil, Skone, Kate, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, TeWaterNaude, Johann, Davis, Hayley, Thompson, Laura, Majumdar, Anirban, Murugan, Archana, Lynch, Mollie, Milton, Emily, Guarino, Iolanda, Tomlinson, Richard, Jarvis, Heather, Berry, Jane, Wills, Lucy, Frimpong-Ansah, Claire, Watson, Jackie, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Horrocks, Iain, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Sedehizadeh, Saam, Williamson, Sarah, Fenty, Paula, Degoede, Christian, Parkes, Amy, Illingworth, Marjorie, Bhangu, Neeraj, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Greenfield, Kathryn, Tomos, Heledd, Gates, Sarah, Tirupathi, Sandya, Shah, Ayaz, O'Donoghue, Dara, McVeigh, Janine, McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Stephen, Elma, Tewnion, Jane, Ramdas, Sithara, Sa, Mario, Servais, Laurent, Lilien, Charlotte, Ramjattan, Hayley, Taylor, Francesca, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Rubino-Nacht, Daniela, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Amthor, Helge, Deconinck, Nicolas, de Groot, Imelda, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Nascimento Osorio, Andrés, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M, Fischer, Dirk ^*

Source: In The Lancet Neurology October 2023 22(10):890-899

Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

Authors: Mayhew, Anna G, Moat, Dionne, McDermott, Michael P., Eagle, Michelle, Griggs, Robert C., King, Wendy M., James, Meredith K., Muni-Lofra, Robert, Shillington, Alison, Gregson, Sarah, Pallant, Lindsey, Skura, Christy, Staudt, Loretta A., Eichinger, Katy, McMurchie, Heather, Rabb, Rosanna, Di Marco, Marina, Brown, Sarah, Zanin, Riccardo, Arnoldi, Maria Teresa, McIntyre, Melissa, Wilson, Amelia, Alfano, Lindsay N., Lowes, Linda P., Blomgren, Colleen, Milev, Evelin, Iodice, Mario, Pasternak, Amy, Chiu, Angela, Lehnert, Ilka, Claus, Nicole, Dieruf, Kathy A., Rolle, Enrica, Nicorici, Alina, Andres, Barbara, Hobbiebrunken, Elke, Roetmann, Gerda, Kern, Victoria, Civitello, Matthew, Vogt, Sibylle, Hayes, Melissa J., Scholtes, Cheryl, Lacroix, Catherine, Gunn, Tara, Warner, Sinead, Newman, Jennifer, Barp, Andrea, Kundrat, Katherine, Kovelman, Staci, Powers, Penny J., Guglieri, Michela

Source: NEUROMUSCULAR DISORDERS. 32(6):460-467

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165297008.0x000001&indx=1&recIds=ETOCvdc_100165297008.0x000001

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

Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.

Authors: Rodriguez-Torres, Rafael, Kanner, Cara H, Gay, Emma L, Uher, David, Corbeil, Thomas, Coratti, Giorgia, Dunaway Young, Sally, Rohwer, Annemarie, Muni Lofra, Robert, McDermott, Michael P, De Vivo, Darryl C, Wall, Melanie M, Glynn, Nancy W, Montes, Jacqueline

Source: Journal of Neuromuscular Diseases; Jan2025, Vol. 12 Issue 1, p45-56, 12p

Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation

Authors: Wolfe, Amy, Scoto, Mariacristina, Milev, Evelin, Muni Lofra, Robert, Abbott, Lianne, Wake, Ruth, Rohwer, Annemarie, Main, Marion, Baranello, Giovanni, Mayhew, Anna, Marini‐Bettolo, Chiara, Muntoni, Francesco

Source: Muscle & nerve. 64(5):545-551

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134634243.0x000001&indx=1&recIds=ETOCvdc_100134634243.0x000001

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Authors: Jacobs, Marni B., James, Meredith 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

Source: Annals of neurology. 89(5):967-978

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120328561.0x000001&indx=1&recIds=ETOCvdc_100120328561.0x000001

Gain and loss of abilities in type II SMA: A 12-month natural history study

Authors: Coratti, Giorgia, Lucibello, Simona, Pera, Maria C, Duong, Tina, Muni Lofra, Robert, Civitello, Matthew, D'Amico, Adele, Goemans, Nathalie, Darras, Basil T, Bruno, Claudio, Sansone, Valeria A, Day, John, Nascimento Osorio, Andres, Muntoni, Francesco, Montes, Jaccqueline, Sframeli, Maria, Finkel, Richard, Mercuri, Eugenio

Source: In Neuromuscular Disorders September 2020 30(9):765-771

Clinical Variability in Spinal Muscular Atrophy Type III

Authors: Coratti, Giorgia, Messina, Sonia, Lucibello, Simona, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Bovis, Francesca, Exposito Escudero, Jessica, Mazzone, Elena Stacy, Mayhew, Anna, Glanzman, Allan M., Young, Sally Dunaway, Salazar, Rachel, Duong, Tina, Muni Lofra, Robert, De Sanctis, Roberto, Carnicella, Sara, Milev, Evelin, Civitello, Matthew, Pane, Marika, Scoto, Mariacristina, Bettolo, Chiara Marini, Antonaci, Laura, Frongia, Annalia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, Van Den Hauwe, Marleen, Albamonte, Emilio, Goemans, Nathalie, Darras, Basil T., Bertini, Enrico, Sansone, Valeria, Day, John, Nascimento Osorio, Andres, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio

Source: Annals of neurology. 88(6):1109-1117

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114006316.0x000001&indx=1&recIds=ETOCvdc_100114006316.0x000001

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Authors: Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Sframeli, Maria

Source: European Journal of Neurology; Aug2024, Vol. 31 Issue 8, p1-10, 10p

Subject Terms: SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Authors: Segarra-Casas, Alba, Yépez, Vicente A., Demidov, German, Laurie, Steven, Esteve-Codina, Anna, Gagneur, Julien, Parkhurst, Yolande, Muni-Lofra, Robert, Harris, Elizabeth, Marini-Bettolo, Chiara, Straub, Volker, Töpf, Ana

Source: International Journal of Molecular Sciences; Jul2024, Vol. 25 Issue 14, p7793, 12p

Subject Terms: DUCHENNE muscular dystrophy, WHOLE genome sequencing, GENE expression, BECKER muscular dystrophy, TRANSCRIPTOMES

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies

Authors: James, Meredith K, Alfano, Lindsay N, Muni-Lofra, Robert, Reash, Natalie F, Sodhi, Jassi, Iammarino, Megan A, Moat, Dionne, Shannon, Kianna, McCallum, Michelle, Richardson, Mark, Eagle, Michelle, Straub, Volker, Marini-Bettolo, Chiara, Lowes, Linda P, Mayhew, Anna G

Source: Physical therapy. 102(10)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164794728.0x000001&indx=1&recIds=ETOCvdc_100164794728.0x000001

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Authors: Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 3, p665-677, 13p

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

Authors: Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, De Vivo, Darryl C.

Source: Pediatric physical therapy. 30(3):209-215

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176356479.0x000001&indx=1&recIds=ETOCvdc_100176356479.0x000001

Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.

Authors: Muni-Lofra, Robert, Juanola-Mayos, Eduard, Schiava, Marianela, Moat, Dionne, Elseed, Maha, Michel-Sodhi, Jassi, Harris, Elizabeth, McCallum, Michelle, Moore, Ursula, Richardson, Mark, Trainor, Christina, Wong, Karen, Malinova, Monika, Bolano-Diaz, Carla, Keogh, Michael John, Ghimenton, Elisabetta, Verdu-Diaz, Jose, Mayhew, Anna, Guglieri, Michela, Straub, Volker

Source: Neurology: Genetics; Aug2023, Vol. 9 Issue 4, p1-11, 11p

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.

Authors: Rodriguez-Torres, Rafael S., Uher, David, Gay, Emma L., Coratti, Giorgia, Dunaway Young, Sally, Rohwer, Annemarie, Muni Lofra, Robert, De Vivo, Darryl C., Hirano, Michio, Glynn, Nancy W., Montes, Jacqueline

Source: Journal of Clinical Medicine; May2023, Vol. 12 Issue 10, p3458, 18p

Subject Terms: SPINAL muscular atrophy, FATIGUE (Physiology)

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.

Authors: Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M.

Source: Journal of Clinical Medicine; Mar2023, Vol. 12 Issue 5, p1920, 19p

Subject Terms: SPINAL muscular atrophy, PEDIATRICS, AGE groups

254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022

Authors: Attarian, Shahram, Bartels, Bart, Gorni, Ksenija, Goemans, Nathalie, Gusset, Nicole, Hodgkinson, Victoria, Hagenacker, Tim, Kirschner, Janbernd, Klein, Andrea, Kostera-Pruszczyk, Anna, Lochmüller, Hanns, Marini-Bettolo, Chiara, Mercuri, Eugenio, Muni-Lofra, Robert, Ouillade, Laetitia, Quinlivan, Rosaline, Papadopoulos, Constantinos, Prigent, Hélène, Salort-Campana, Emmanuelle, Sansone, Valeria A, Smit, Rivka, Smeriglio, Piera, Thiele, Simone, Tichler, Ben, Van den Bergh, Peter, Vazquez-Costa, Juan F, Vissing, John, Walter, Maggie C., Laforêt, Pascal, van der Pol, W. Ludo, Pegoraro, Elena

Source: In Neuromuscular Disorders June 2023 33(6):511-522

266th ENMC International Workshop: Remote delivery of clinical care and validation of remote clinical outcome assessments in neuromuscular disorders: A response to COVID-19 and proactive planning for the future. Hoofddorp, The Netherlands, 1–3 April 2022

Authors: Coats, Julie, Corderí, José, Costello, Annette, Eagle, Michelle, Elseed, Maha, Gaeta, Alessandra, Gordish-Dressman, Heather, Davies, Elin Haf, Human, Anri, Knudsen, Lone, Leffler, Mindy, Levy, Jennifer, Lilien, Charlotte, Mancini, Maria, Mayhew, Anna, McGrattan, Katlyn, Muni-Lofra, Robert, Peck, Allison, Peck, Nathan, Prada, Valeria, Pylarinou, Hara, Rose, Kristy, Werlauff, Ulla, Alfano, Lindsay N., James, Meredith K., Ramdharry, Gita M., Lowes, Linda P.

Source: In Neuromuscular Disorders April 2023 33(4):339-348

Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK.

Authors: Muni-Lofra, Robert, Murphy, Lindsay B., Adcock, Kate, Farrugia, Maria E., Irwin, Joseph, Lilleker, James B., McConville, John, Merrison, Andria, Parton, Matt, Ryburn, Liz, Scoto, Mariacristina, Marini-Bettolo, Chiara, Mayhew, Anna

Source: Frontiers in Neurology; 5/30/2022, Vol. 13, p1-14, 14p

Subject Terms: SPINAL muscular atrophy, MUSCULAR atrophy, CARE of people, MUSCLE weakness, MEDICAL registries, NEUROLOGISTS

Geographic Terms: UNITED Kingdom

Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area.

Authors: Wood, Claire L., Hollingsworth, Kieren G., Hughes, Eric, Punniyakodi, Sadhanandham, Muni-Lofra, Robert, Mayhew, Anna, Mitchell, Rod T., Guglieri, Michela, Cheetham, Timothy D., Straub, Volker

Source: European Journal of Endocrinology; 2021, Vol. 184 Issue 1, p67-79, 13p

Subject Terms: SURFACE area, MUSCLES, DUCHENNE muscular dystrophy, BONE density, LUMBAR vertebrae