Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
Jungbluth, Heinz, Treves, Susan, Zorzato, Francesco, Sarkozy, Anna, Ochala, Julien, Sewry, Caroline, Phadke, Rahul, Gautel, Mathias, Muntoni, Francesco
Published in Nature reviews. Neurology (01.03.2018)
Published in Nature reviews. Neurology (01.03.2018)
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Qualitative Ultrasound in Acute Critical Illness Muscle Wasting
Puthucheary, Zudin A, Phadke, Rahul, Rawal, Jaikitry, McPhail, Mark J W, Sidhu, Paul S, Rowlerson, Anthea, Moxham, John, Harridge, Stephen, Hart, Nicholas, Montgomery, Hugh E
Published in Critical care medicine (01.08.2015)
Published in Critical care medicine (01.08.2015)
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.09.2017)
Published in Neuromuscular disorders : NMD (01.09.2017)
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Journal Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
FOLEY, A. Reghan, MENEZES, Manoj P, HUGHES, Imelda, MCCULLAGH, B. Gary, JUNGBLUTH, Heinz, LIM, Ming J, LIN, Jean-Pierre, MEGARBANE, Andre, ANDONI URTIZBEREA, J, SHAH, Ayaz H, ANTONY, Jayne, WEBSTER, Richard, PANDRAUD, Amelie, BROOMFIELD, Alexander, NG, Joanne, MATHEW, Ann A, O'BYRNE, James J, FORMAN, Eva, SCOTO, Mariacristina, PRASAD, Manish, O'BRIEN, Katherine, OLPIN, Simon, OPPENHEIM, Marcus, GONZALEZ, Michael A, HARGREAVES, Iain, LAND, John M, WANG, Min X, CARPENTER, Kevin, HORVATH, Rita, STRAUB, Volker, LEK, Monkol, GOLD, Wendy, FARRELL, Michael O, BRANDNER, Sebastian, AL-ODAIB, Ahmad, PHADKE, Rahul, MATSUBARA, Kazuo, McCGARVEY, Michael L, SCHERER, Steven S, BAXTER, Peter S, KING, Mary D, CLAYTON, Peter, RAHMAN, Shamima, REILLY, Mary M, OUVRIER, Robert A, ABRAMS, Alexander J, CHRISTODOULOU, John, ZÜCHNER, Stephan, MUNTONI, Francesco, HOULDEN, Henry, SUGANO, Kumiko, YONEZAWA, Atsushi, MANZUR, Adnan Y, BURNS, Joshua
Published in Brain (London, England : 1878) (01.01.2014)
Published in Brain (London, England : 1878) (01.01.2014)
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A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples
Sardone, Valentina, Ellis, Matthew, Torelli, Silvia, Feng, Lucy, Chambers, Darren, Eastwood, Deborah, Sewry, Caroline, Phadke, Rahul, Morgan, Jennifer E, Muntoni, Francesco
Published in PloS one (26.03.2018)
Published in PloS one (26.03.2018)
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Journal Article
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy
Scaglioni, Dominic, Catapano, Francesco, Ellis, Matthew, Torelli, Silvia, Chambers, Darren, Feng, Lucy, Beck, Matthew, Sewry, Caroline, Monforte, Mauro, Harriman, Shawn, Koenig, Erica, Malhotra, Jyoti, Popplewell, Linda, Guglieri, Michela, Straub, Volker, Mercuri, Eugenio, Servais, Laurent, Phadke, Rahul, Morgan, Jennifer, Muntoni, Francesco
Published in Acta neuropathologica communications (06.01.2021)
Published in Acta neuropathologica communications (06.01.2021)
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Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
Chan, Sophelia H.S, Foley, A. Reghan, Phadke, Rahul, Mathew, Ann Agnes, Pitt, Matthew, Sewry, Caroline, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
Scaglioni, Dominic, Ellis, Matthew, Catapano, Francesco, Torelli, Silvia, Chambers, Darren, Feng, Lucy, Sewry, Caroline, Morgan, Jennifer, Muntoni, Francesco, Phadke, Rahul
Published in Acta neuropathologica communications (17.04.2020)
Published in Acta neuropathologica communications (17.04.2020)
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Journal Article
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy
Di Foggia, Valentina, Zhang, Xinyu, Licastro, Danilo, Gerli, Mattia F M, Phadke, Rahul, Muntoni, Francesco, Mourikis, Philippos, Tajbakhsh, Shahragim, Ellis, Matthew, Greaves, Laura C, Taylor, Robert W, Cossu, Giulio, Robson, Lesley G, Marino, Silvia
Published in The Journal of experimental medicine (15.12.2014)
Published in The Journal of experimental medicine (15.12.2014)
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Journal Article
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice
Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J
Published in Journal of the American Heart Association (06.12.2022)
Published in Journal of the American Heart Association (06.12.2022)
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Journal Article
BAG3 mutations: another cause of giant axonal neuropathy
Jaffer, Fatima, Murphy, Sinéad M., Scoto, Mariacristina, Healy, Estelle, Rossor, Alexander M., Brandner, Sebastian, Phadke, Rahul, Selcen, Duygu, Jungbluth, Heinz, Muntoni, Francesco, Reilly, Mary M.
Published in Journal of the peripheral nervous system (01.06.2012)
Published in Journal of the peripheral nervous system (01.06.2012)
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Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging
De Goede, Christian, FRCPCH FRCP Edin, Oh, Teik, FRCR, Joseph, Jacob, FRCPath, Muntoni, Francesco, MD, Sewry, Caroline, PhD, FRCPath, Phadke, Rahul, MD, FRCPath
Published in Pediatric neurology (01.01.2016)
Published in Pediatric neurology (01.01.2016)
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Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
Piras, Giuseppa, Montiel-Equihua, Claudia, Chan, Yee-Ka Agnes, Wantuch, Slawomir, Stuckey, Daniel, Burke, Derek, Prunty, Helen, Phadke, Rahul, Chambers, Darren, Partida-Gaytan, Armando, Leon-Rico, Diego, Panchal, Neelam, Whitmore, Kathryn, Calero, Miguel, Benedetti, Sara, Santilli, Giorgia, Thrasher, Adrian J., Gaspar, H. Bobby
Published in Molecular therapy. Methods & clinical development (11.09.2020)
Published in Molecular therapy. Methods & clinical development (11.09.2020)
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Journal Article
GGPS1‐associated muscular dystrophy with and without hearing loss
Kaiyrzhanov, Rauan, Perry, Luke, Rocca, Clarissa, Zaki, Maha S., Hosny, Heba, Araujo Martins Moreno, Cristiane, Phadke, Rahul, Zaharieva, Irina, Camelo Gontijo, Clara, Beetz, Christian, Pini, Veronica, Movahedinia, Mojtaba, Zanoteli, Edmar, DiTroia, Stephanie, Vuillaumier‐Barrot, Sandrine, Isapof, Arnaud, Mehrjardi, Mohammad Yahya Vahidi, Ghasemi, Nasrin, Sarkozy, Anna, Muntoni, Francesco, Whalen, Sandra, Vona, Barbara, Houlden, Henry, Maroofian, Reza
Published in Annals of clinical and translational neurology (01.09.2022)
Published in Annals of clinical and translational neurology (01.09.2022)
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Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies
Stevens, Elizabeth, Torelli, Silvia, Feng, Lucy, Phadke, Rahul, Walter, Maggie C, Schneiderat, Peter, Eddaoudi, Ayad, Sewry, Caroline A, Muntoni, Francesco
Published in PloS one (22.07.2013)
Published in PloS one (22.07.2013)
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Ageing contributes to phenotype transition in a mouse model of periodic paralysis
Suetterlin, Karen J., Tan, S. Veronica, Mannikko, Roope, Phadke, Rahul, Orford, Michael, Eaton, Simon, Sayer, Avan A., Grounds, Miranda D., Matthews, Emma, Greensmith, Linda, Hanna, Michael G.
Published in JCSM rapid communications (01.07.2021)
Published in JCSM rapid communications (01.07.2021)
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Strawberries on the Brain—Intracranial Capillary Hemangioma: Two Case Reports and Systematic Literature Review in Children and Adults
Mirza, Bilal, Shi, William Y, Phadke, Rahul, Holton, Janice L, Turner, Chris, Plant, Gordon T, Brew, Stefan, Kitchen, Neil, Zrinzo, Ludvic
Published in World neurosurgery (01.12.2013)
Published in World neurosurgery (01.12.2013)
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Journal Article
Zellweger syndrome and secondary mitochondrial myopathy
Salpietro, Vincenzo, Phadke, Rahul, Saggar, Anand, Hargreaves, Iain P., Yates, Robert, Fokoloros, Christos, Mankad, Kshitij, Hertecant, Jozef, Ruggieri, Martino, McCormick, David, Kinali, Maria
Published in European journal of pediatrics (01.04.2015)
Published in European journal of pediatrics (01.04.2015)
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