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JAMA Neurology|November 13, 2013
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skippingKaren Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, et al.Neuromuscular Disorders : NMD|November 18, 2005
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2ISilvia Torelli, Susan C Brown, Martin Brockington, et al.Biomolecules|May 28, 2025
<i>MECP2</i> mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA MappingMartina Mietto, Silvia Montanari, Maria Sofia Falzarano, et al.Annals of Neurology|April 1, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri, Martin Brockington, Volker Straub, et al.Scientific Reports|June 1, 2018
Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migrationAnna Urciuolo, Luca Urbani, Silvia Perin, et al.Journal of Cachexia, Sarcopenia and Muscle|January 27, 2022
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophyMary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, et al.Acta Neuropathologica Communications|January 7, 2021
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophyDominic Scaglioni, Francesco Catapano, Matthew Ellis, et al.Brain Pathology (Zurich, Switzerland)|August 12, 2008
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, et al.Neuropathology and Applied Neurobiology|October 14, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brainPinki Munot, Nadine McCrea, Silvia Torelli, et al.Elife|September 25, 2020
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycanAmeya S Walimbe, Hidehiko Okuma, Soumya Joseph, et al.Pageof 6