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Author/Creator Torelli, Silvia

1. A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan. (30th September 2019)

Authors:
Kim, Jihee; Lana, Beatrice; Torelli, Silvia; Ryan, David; Catapano, Francesco; Ala, Pierpaolo; Luft, Christin; Stevens, Elizabeth; Konstantinidis, Evangelos; Louzada, Sandra; Fu, Beiyuan; Paredes‐Redondo, Amaia; Chan, AW Edith; Yang, Fengtang; Stemple, Derek L; Liu, Pentao; Ketteler, Robin; Selwo...
Journal:
EMBO reports
Issue:
Volume 20:Number 11(2019)
Page Start:
n/a
Record Type:
Journal Article
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2. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Issue 10 (8th September 2021)

Authors:
Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M; Leturcq, France; Yaou, Rabah Ben; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; B...
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 80:Issue 10(2021)
Page Start:
955
Record Type:
Journal Article
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3. Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Issue 2 (26th January 2022)

Authors:
Chesshyre, Mary; Ridout, Deborah; Hashimoto, Yasumasa; Ookubo, Yoko; Torelli, Silvia; Maresh, Kate; Ricotti, Valeria; Abbott, Lianne; Gupta, Vandana Ayyar; Main, Marion; Ferrari, Giulia; Kowala, Anna; Lin, Yung‐Yao; Tedesco, Francesco Saverio; Scoto, Mariacristina; Baranello, Giovanni; Manzur, Ad...
Journal:
Journal of cachexia, sarcopenia and muscle
Issue:
Volume 13:Issue 2(2022)
Page Start:
1360
Record Type:
Journal Article
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4. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Issue 7 (3rd February 2018)

Authors:
Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S; Parto...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89:Issue 7(2018)
Page Start:
762
Record Type:
Journal Article
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5. TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain. (11th November 2021)

Authors:
Munot, Pinki; McCrea, Nadine; Torelli, Silvia; Manzur, Adnan; Sewry, Caroline; Chambers, Darren; Feng, Lucy; Ala, Pierpaolo; Zaharieva, Irina; Ragge, Nicola; Roper, Helen; Marton, Tamas; Cox, Phil; Milev, Miroslav P.; Liang, Wen‐Chen; Maruyama, Shinsuke; Nishino, Ichizo; Sacher, Michael; Phadke, ...
Journal:
Neuropathology & applied neurobiology
Issue:
Volume 48:Number 2(2022)
Page Start:
n/a
Record Type:
Journal Article
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