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openAccessNew_Motor_Scale.pdf.jpgmay-2021Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleJacobs, Marni; James, Meredith K.; Lowes, Linda Pax; Alfano, Lindsay; 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; Sánchez-Aguilera Praxedes, 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Díaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Mayhew, Anna G.; Straub, Volkerartículo
openAccessStatus-Dysferlinopathy.pdf.jpg10-mar-2022Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachMayhew, Anna G.; James, Meredith K.; Moore, Ursula; Sutherland, Helen; Jacobs, Marni; Feng, Jia; Lowes, Linda Pax; Alfano, Lindsay; Muni Lofra, Robert; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Gordish, Heather; Hilsden, Heather; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Díaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Straub, Volkerartículo
openAccessdysferlinopathy.pdf.jpgmay-2022Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyMoore, Ursula; Fernández-Torrón, Roberto; Jacobs, Marni; Gordish, Heather; Díaz-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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Bourke, John; Straub, Volkerartículo
openAccessExpanding_ND_2023_OA.pdf.jpgabr-2023Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI patternLlansó, Laura; Moore, Ursula; Bolano-Diaz, Carla; James, Meredith K.; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Straub, Volker; Díaz-Manera, Jordiartículo
openAccessMiyoshi_myopathy.pdf.jpgabr-2021Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same diseaseMoore, Ursula; Gordish, Heather; Díaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Guglieri, Michela; Fernández-Torrón, 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Straub, Volkerartículo
openAccessfeb-2023Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathyMoore, 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 CSIC ORCID; Stojkovic, Tanya; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Diaz-Manera, Jordi; Straub, Volker; The Jain COS Consortiumartículo
openAccess10-mar-2022Table_1_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docxMayhew, Anna G.; James, Meredith K.; Moore, Ursula; Sutherland, Helen; Jacobs, Marni; Feng, Jia; Lowes, Linda Pax; Alfano, Lindsay; Muni Lofra, Robert; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Gordish, Heather; Hilsden, Heather; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Díaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Straub, Volkerdataset
openAccess10-mar-2022Table_2_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docxMayhew, Anna G.; James, Meredith K.; Moore, Ursula; Sutherland, Helen; Jacobs, Marni; Feng, Jia; Lowes, Linda Pax; Alfano, Lindsay; Muni Lofra, Robert; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Gordish, Heather; Hilsden, Heather; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Díaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Straub, Volkerdataset
openAccessWater T2_Moore_PV.pdf.jpgdic-2022Water T2 could predict functional decline in patients with dysferlinopathyMoore, Ursula; Caldas de Almeida Araújo, Ericky; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith K.; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G.; Díaz-Manera, Jordiartículo