S. Torelli

Susan C. Brown, F. Muntoni, C. Sewry, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Immunocompetent cell markers in human fetal astrocytes and neurons in culture

D. Cocchia, S. Torelli, V. Sogos, 1992, Journal of neuroscience research.

Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle

Susan C. Brown, F. Muntoni, Q. Lu, 2003, Neuromuscular Disorders.

IMMUNOCOMPETENT-LIKE CELLS IN HUMAN FETAL BRAIN CULTURES

S. Torelli, V. Sogos, M. Ennas, 1990 .

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

F. Muntoni, V. Sardone, E. Ricci, 2021, Journal of neuropathology and experimental neurology.

OP-JNEN210096 1..11

F. Muntoni, V. Sardone, E. Ricci, 2021 .

Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle

F. Muntoni, A. Ferlini, C. Sewry, 1999, Neuromuscular Disorders.

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

V. Ricotti, K. Bushby, F. Muntoni, 2014, JAMA neurology.

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

F. Muntoni, C. Sewry, S. Torelli, 2004, Neuropathology and applied neurobiology.

Acetylcholine‐induced production of platelet‐activating factor by human fetal brain cells in culture

F. Bussolino, S. Torelli, V. Sogos, 1990, Journal of neuroscience research.

CONGENITAL MUSCULAR DYSTROPHIES P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

F. Muntoni, I. Nishino, W. Liang, 2020, Neuromuscular Disorders.

Basic fibroblast growth factor in neuronal cultures of human fetal brain

P. Dell’Era, M. Presta, S. Torelli, 1990, Journal of neuroscience research.

Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype

M. Main, V. Ricotti, F. Muntoni, 2021, medRxiv.

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Francesco Muntoni, Alessandra Ferlini, F. Muntoni, 2003, The Lancet Neurology.

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

F. Muntoni, V. Sardone, C. Sewry, 2018, PloS one.

Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy

Susan C. Brown, F. Muntoni, Y. Shapira, 2006, Annals of neurology.

Human fetal brain cultures: a model to study neural proliferation, differentiation and immunocompetence.

D. Cocchia, S. Torelli, V. Sogos, 1991, Advances in experimental medicine and biology.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Susan C. Brown, F. Muntoni, C. Sewry, 2008, Archives of neurology.

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

S. Bicciato, M. Falzarano, H. Osman, 2021, Frontiers in Physiology.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

J. Bourke, K. Bushby, F. Muntoni, 2011, The Lancet.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

D. MacArthur, M. Hurles, A. Hoischen, 2013, American journal of human genetics.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

F. Muntoni, D. Stemple, S. Çırak, 2011, Neuromuscular Disorders.

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan

F. Muntoni, H. Topaloglu, G. Kale, 2003, Neuromuscular Disorders.

Syncoilin upregulation in muscle of patients with neuromuscular disease

Francesco Muntoni, Susan C. Brown, F. Muntoni, 2005, Muscle & nerve.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Susan C. Brown, E. Mercuri, K. Bushby, 2007, Brain : a journal of neurology.

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

F. Muntoni, C. Sewry, S. Torelli, 2012, Neuromuscular Disorders.

Muscarinic receptor subclasses in retinal cultures: Effect of corticosterone

S. Torelli, V. Sogos, F. Gremo, 1989, Journal of neuroscience research.

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.

F. Muntoni, K. Anthony, V. Arechavala-Gomeza, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.

Susan C. Brown, F. Muntoni, D. Wells, 2011, Current opinion in neurology.

Clinical phenotype in patients with mutations in the fukutin-related protein (FKRP) gene

Martin Brockington, Francesco Muntoni, Sc Brown, 2002 .

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

M. Main, V. Ricotti, F. Muntoni, 2022, Journal of cachexia, sarcopenia and muscle.

Dystroglycan expression during muscle development

Francesco Muntoni, Sc Brown, Lucy Feng, 2002 .

Dystrophin quantification

F. Muntoni, K. Flanigan, K. Anthony, 2014, Neurology.

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

Liping Yu, J. Dixon, F. Muntoni, 2020, eLife.

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

Liping Yu, J. Dixon, F. Muntoni, 2020, bioRxiv.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

F. Muntoni, N. Sebire, E. Bliss, 2016, Molecular genetics and metabolism reports.

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies

F. Muntoni, P. Schneiderat, M. Walter, 2013, PloS one.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

M. Hurles, C. Walsh, F. Muntoni, 2013, American journal of human genetics.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

M. Hurles, F. Muntoni, K. Campbell, 2013, Brain : a journal of neurology.

Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan

M. Hurles, C. Walsh, F. Muntoni, 2013 .

Evaluation of the effect of a transient up-regulation of LARGE in the mouse m.tibialis anterior

Martin Brockington, Francesco Muntoni, Sc Brown, 2006 .

How much dystrophin to avoid muscular dystrophy

Francesco Muntoni, Luciano Merlini, Alessandra Ferlini, 2007 .

Cellular localisation of wild type and mutated FKRP

Martin Brockington, Francesco Muntoni, Sc Brown, 2004 .

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

K. Bushby, F. Muntoni, Hanns Lochmüller, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Susan C. Brown, C. Ponting, E. Mercuri, 2001, American journal of human genetics.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Susan C. Brown, J. Burgunder, K. Bushby, 2001, Human molecular genetics.

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.

Martin Brockington, Francesco Muntoni, Susan C. Brown, 2005, Human molecular genetics.

Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

Susan C. Brown, F. Muntoni, D. Wells, 2010, PloS one.

Defective glycosylation in congenital muscular dystrophies

Susan C. Brown, F. Muntoni, S. Torelli, 2004, Current opinion in neurology.

In situ hybridization of FKRP mRNA during mouse development

Martin Brockington, Francesco Muntoni, Sc Brown, 2004 .

Human astroglial but not microglial cells synthesize α2 in vitroin vitro

S. Torelli, L. Fumagalli, C. Fabrizi, 1992, The Italian Journal of Neurological Sciences.

Chapter 31 Immunopathology and molecular genetics of dystrophinopathies

Susan C. Brown, F. Muntoni, C. Sewry, 2004 .

Alternative splicing of dystrophin exon 4 in normal human muscle

F. Muntoni, S. Torelli, 1996, Human Genetics.

Dystrophin immunoreactivity in normal and duchenne human fetal neurons in culture

F. Muntoni, A. Clerk, S. Torelli, 1992, Journal of neuroscience research.

Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

Susan C. Brown, K. Bushby, F. Muntoni, 2004 .

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.

F. Muntoni, D. Wells, S. Torelli, 2005, Experimental cell research.

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

Susan C. Brown, F. Muntoni, N. Romero, 2005, Neuromuscular Disorders.

Irradiation dependent inflammatory response may enhance satellite cell engraftment

S. Torelli, J. Morgan, B. Doreste, 2020, Scientific Reports.

Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration

K. Patel, S. Eaton, P. de Coppi, 2018, Scientific Reports.

Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study

F. Muntoni, J. Six, L. Palma, 1997, Acta Neuropathologica.

Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.

F. Muntoni, J. Six, G. Guazzi, 1997, Acta neuropathologica.

MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications

S. Torelli, J. Morgan, R. Rossi, 2023, Frontiers in Physiology.

Antigen processing and presenting cells in neuroimmunological network activation and maintenance

S. Torelli, F. Buttarelli, F. Gremo, 1992 .

Heterogeneity of muscarinic cholinergic receptors in the developing human fetal brain: regional distribution and characterization.

S. Torelli, M. Mulas, F. Gremo, 1987, Early human development.

A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan

Fengtang Yang, F. Muntoni, D. Stemple, 2019, EMBO reports.

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

F. Muntoni, F. Catapano, C. Sewry, 2020, Acta Neuropathologica Communications.

Spontaneous Expression of Ia Antigen (HLA-DR) in Cultured Cells of Human Fetal Brain at Different Stages of Gestation

S. Torelli, V. Sogos, M. Ennas, 1990 .

HUMAN FETAL AND TRANSFORMED GLIAL-CELLS ARE SUSCEPTIBLE TO HTLV-I INFECTION

D. Cocchia, S. Torelli, V. Sogos, 1990 .

A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

W. Heywood, S. Torelli, C. Al-Khalili Szigyarto, 2023, International journal of molecular sciences.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

K. Bushby, F. Muntoni, K. Anthony, 2011, Lancet.

Irradiation dependent inflammatory response may enhance satellite cell engraftment

S. Torelli, J. Morgan, B. Doreste, 2020, Scientific Reports.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

D. MacArthur, M. Hurles, A. Hoischen, 2013, American journal of human genetics.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

V. Arechavala-Gomeza, S. Çırak, M. Guglieri, 2011, The Lancet.