C. Sewry

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

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

F. Muntoni, V. Dubowitz, M. Rhodes, 2000, American journal of human genetics.

Congenital muscular dystrophy

F. Muntoni, C. Sewry, 1998, Neurology.

An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.

F. Muntoni, Jacqueline A Taylor, V. Dubowitz, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Expression of laminin subunits in congenital muscular dystrophy

F. Muntoni, V. Dubowitz, C. Sewry, 1995, Neuromuscular Disorders.

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

H. Goebel, N. Romero, W. Stenzel, 2019, Neuromuscular Disorders.

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

F. Muntoni, C. Bönnemann, Haiyan Zhou, 2007, Neuromuscular Disorders.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

F. Muntoni, Haiyan Zhou, P. Stanier, 2006, American journal of human genetics.

Diagnostic approach to the congenital muscular dystrophies

Ching H. Wang, E. Bertini, F. Muntoni, 2014, Neuromuscular Disorders.

Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations

Susan C. Brown, E. Mercuri, F. Muntoni, 2001, Neuropathology and applied neurobiology.

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

F. Muntoni, D. Duboc, H. Worman, 2002, Neuromuscular Disorders.

Sjögren's Syndrome and Other Connective Tissue Disorders [213–222] 213. Sjögren’s Syndrome Activity and Damage Indices Comparison

S. Marie, D. Isenberg, T. Jacques, 2010 .

The muscle-specific marker desmin is expressed in a proportion of human dermal fibroblasts after their exposure to galectin-1

G. E. Jones, D. Watt, C. Sewry, 2002, Neuromuscular Disorders.

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

S. Clément, B. Ilkovski, K. North, 2005, Neuromuscular Disorders.

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers

P. Matthews, I. Craig, C. Sewry, 1995, Neuromuscular Disorders.

DERMATOMYOSITIS, POLYMYOSITIS, AND COXSACKIE-B-VIRUS INFECTION

V. Dubowitz, N. Bowles, C. Sewry, 1987, The Lancet.

The role of Coxsackie B viruses in the pathogenesis of myocarditis, dilated cardiomyopathy and inflammatory muscle disease.

V. Dubowitz, N. Bowles, C. Sewry, 1987, Biochemical Society symposium.

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

F. Muntoni, A. Branzi, A. Ferlini, 1998, American journal of human genetics.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

F. Muntoni, I. Desguerre, H. Topaloglu, 1998, American journal of human genetics.

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

J. Weissenbach, K. Bushby, F. Muntoni, 1997, Journal of medical genetics.

Refinement of the laminin a2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

K. Bushby, F. Muntoni, M. D'alessandro, 2022 .

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

F. Muntoni, C. Sewry, B. Linnane, 2022, Neuromuscular Disorders.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

A. Paetau, K. Pelin, V. Lehtokari, 2019, Neuromuscular Disorders.

Congenital myopathies

F. Muntoni, M. Scoto, A. Manzur, 2015, Neurology.

Approach to the diagnosis of congenital myopathies

Ching H. Wang, J. Dowling, C. Bönnemann, 2014, Neuromuscular Disorders.

Approach to the diagnosis of congenital myopathies q

Ching H. Wang, J. Dowling, C. Bönnemann, 2014 .

Nemaline myopathies.

N. Laing, C. Wallgren‐Pettersson, C. Sewry, 2011, Seminars in pediatric neurology.

Congenital myopathies

F. Muntoni, C. Sewry, C. Jiménez-Mallebrera, 2008, Current opinion in neurology.

Magnetic resonance imaging of muscle in nemaline myopathy

G. Bydder, K. Pelin, J. Allsop, 2004, Neuromuscular Disorders.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

E. Haan, F. Muntoni, N. Laing, 2003, Neuromuscular Disorders.

What's new in neuromuscular disorders? The congenital myopathies.

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

De novo LMNA mutations cause a new form of congenital muscular dystrophy

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Expression of HLA Class I Antigens in Skeletal Muscle Is a Diagnostic Marker in Juvenile Dermatomyositis

F. Muntoni, V. Dubowitz, H. Topaloglu, 1997, Journal of child neurology.

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

S. Al-Sarraj, J. Holton, H. Houlden, 2016, Journal of neuropathology and experimental neurology.

Muscle Disease: Pathology and Genetics

H. Goebel, R. Weller, C. Sewry, 2013 .

A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy

A. MacKenzie, C. Sewry, G. Morris, 2008, Neurology.

Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

E. C. Schirmer, Michael I. Robson, B. Schoser, 2017, Neuromuscular Disorders.

Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

T. Vulliamy, V. Dubowitz, C. Sewry, 1993, American journal of human genetics.

Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain

C. Mcgorrian, C. Sewry, L. Goldfarb, 2012, European Neurology.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

K. Bushby, S. Al-Sarraj, M. Irving, 2011, Neuromuscular Disorders.

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

M. Memmi, D. De Grandis, A. Ferlini, 1998, Journal of medical genetics.

muscular dystrophy (FSHD) withdifferent clinical expression

M. Memmi, A. Ferlini, R. Tupler, 1998 .

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

F. Muntoni, S. Al-Sarraj, Haiyan Zhou, 2010, Neuromuscular Disorders.

Lectin binding in human skeletal muscle: a comparison of 15 different lectins

V. Dubowitz, M. Dunn, C. Sewry, 2005, The Histochemical Journal.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

K. Bushby, F. Muntoni, A. Manzur, 2017, Neuromuscular Disorders.

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 .

Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody

N. Duong, K. Mamchaoui, C. Shanahan, 2016, BMC Cell Biology.

Muscular dystrophies: an update on pathology and diagnosis

C. Sewry, 2010, Acta Neuropathologica.

Myopathy with unique ultrastructural feature in marchinesco‐sjögren syndrome

V. Dubowitz, T. Voit, C. Sewry, 1988, Annals of neurology.

X-inactivation patterns in carriers of X-linked myotubular myopathy

S. Gallati, F. Muntoni, C. Wallgren‐Pettersson, 2003, Neuromuscular Disorders.

Characterisation of dystrophin in carriers of Duchenne muscular dystrophy

V. Dubowitz, A. Clerk, C. Sewry, 1991, Journal of the Neurological Sciences.

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.

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Human Genetics.

Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

A. Blamire, F. Muntoni, P. Styles, 1997, Neuromuscular Disorders.

Phenotypic variability in siblings with type III spinal muscular atrophy

M. Muqit, J. Moss, C. Sewry, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Dysferlin associates with the developing T‐tubule system in rodent and human skeletal muscle

K. Bushby, Hanns Lochmüller, S. Laval, 2010, Muscle & nerve.

Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

M. Roberts, C. Sewry, F. Roncaroli, 2021, Rheumatology.

Monitoring duchenne muscular dystrophy gene therapy with epitope-specific monoclonal antibodies.

C. Sewry, G. Morris, N. Man, 2011, Methods in molecular biology.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

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.

Immunocytochemical localisation of complement components C8 and C9 in human diseased muscle the role of complement in muscle fibre damage

A. Campbell, V. Dubowitz, J. Luzio, 1987, Journal of the Neurological Sciences.

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.

F. Muntoni, A. Manzur, M. Farrugia, 2018, Neuromuscular Disorders.

F. Muntoni, A. Manzur, M. Farrugia, 2018 .

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

F. Muntoni, N. Clarke, D. Herrmann, 2015, Brain : a journal of neurology.

The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related

V. Dubowitz, C. Sewry, J. Taylor, 1997 .

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

X-linked dilated cardiomyopathy and the dystrophin gene

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

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

J. Dowling, A. Beggs, B. Schoser, 2016, Journal of neuropathology and experimental 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.

Absence of Utrophin in Intercalated Discs of Human Cardiac Muscle

C. Sewry, G. Morris, N. thi Man, 2004, The Histochemical Journal.

Electron microscopy of human skeletal muscle: role in diagnosis

C. Sewry, 2002 .

Inherited disorders of the extracellular matrix.

F. Muntoni, C. Sewry, Francesco Muntoni, 1999, Current opinion in neurology.

Historical aspects of muscle research in the Dubowitz Neuromuscular Centre: the Hammersmith days

C. Sewry, 2021, Neuromuscular Disorders.

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

V. Dubowitz, C. Sewry, K. Morten, 1994, Human molecular genetics.

Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy

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

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

D. Birchall, K. Bushby, F. Muntoni, 2013, Neuromuscular Disorders.

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

K. Bushby, F. Muntoni, C. Bönnemann, 2004, Neuromuscular Disorders.

A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours

K. Davies, J. Ehmsen, C. Sewry, 2005, Neuromuscular Disorders.

Expression of utrophin (dystrophin–related protein) during regeneration and maturation of skeletal muscle in canine X–linked muscular dystrophy

V. Dubowitz, B. Cooper, C. Sewry, 1994, Neuropathology and applied neurobiology.

Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related

F. Muntoni, V. Dubowitz, C. Sewry, 1997, Neuromuscular Disorders.

Characterisation of dystrophin in fetuses at risk for Duchenne muscular dystrophy

V. Dubowitz, A. Clerk, C. Sewry, 1992, Journal of the Neurological Sciences.

Complement-Mediated Plasma-Membrane Damage: Effects on Cell Physiology, Prospects of Cell Recovery and Implications for Disease Mechanisms

A. Campbell, J. Luzio, C. Sewry, 1987 .

The muscular dystrophies

T. Partridge, C. Sewry, 2020, Gene Therapy.

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Margaret A. Johnson, E. Mercuri, K. Bushby, 2001, Neuromuscular Disorders.

Prenatal diagnosis in congenital muscular dystrophy

F. Muntoni, B. Brambati, C. Angelini, 1995, The Lancet.

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

F. Muntoni, S. Manilal, C. Sewry, 1997, Neuromuscular Disorders.

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001)

C. Clark, E. Mercuri, K. Bushby, 2018 .

Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects

F. Muntoni, C. Sewry, E. Clement, 2021, Neuromuscular Disorders.

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

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

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

Susan C. Brown, E. Bertini, E. Mercuri, 2000, Neuromuscular Disorders.

Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development

D. Furling, C. Sewry, E. McNally, 2010, Developmental dynamics : an official publication of the American Association of Anatomists.

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

F. Muntoni, Haiyan Zhou, H. Jungbluth, 2010, Neuromuscular Disorders.

Muscle MRI findings in a three-generation family affected by Bethlem myopathy.

Susan C. Brown, J. Allsop, E. Mercuri, 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Expression of laminin subunits in human fetal skeletal muscle

M. Chevallay, C. Sewry, F. Tomé, 1995, The Histochemical Journal.

Expression of laminin subunits in human fetal skeletal muscle

M. Chevallay, C. Sewry, F. Tomé, 2004, The Histochemical Journal.

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Neuromuscular Disorders.

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

F. Muntoni, M. D'alessandro, V. Dubowitz, 1996, The Lancet.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

F. Muntoni, C. Sewry, S. Treves, 2003, Human molecular genetics.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

F. Baas, E. Mercuri, F. Muntoni, 2019 .

Central core disease: clinical, pathological, and genetic features

N. Laing, R. Quinlivan, C. Sewry, 2003, Archives of disease in childhood.

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy.

S. Manilal, C. Sewry, D. Love, 1999, Human molecular genetics.

Cytochemical studies of lectin binding by diseased human muscle

V. Dubowitz, M. Dunn, C. Sewry, 1982, Journal of the Neurological Sciences.

Altered binding of Ricinus communis I lectin by muscle membranes in Duchenne muscular dystrophy

V. Dubowitz, M. Dunn, C. Sewry, 1984, Journal of the Neurological Sciences.

Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.

E. Mercuri, F. Muntoni, V. Dubowitz, 1995, Neuropediatrics.

Binding of Ricinus communis I lectin to the muscle cell plasma membrane in diseased muscle

V. Dubowitz, M. Dunn, C. Sewry, 1984, Journal of the Neurological Sciences.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

F. Muntoni, K. Flanigan, S. Chin, 2009, Brain : a journal of neurology.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

J. Golden, F. Muntoni, K. Flanigan, 2008, The Journal of clinical investigation.

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)

F. Muntoni, J. Holton, M. Hanna, 2015, Neuromuscular Disorders.

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

N. Wood, D. Healy, M. Davis, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Nemaline myopathies: a current view

C. Wallgren‐Pettersson, C. Sewry, J. Laitila, 2019, Journal of Muscle Research and Cell Motility.

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

F. Muntoni, M. Scoto, A. Manzur, 2013, Neuromuscular Disorders.

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

K. Davies, G. Ravenscroft, N. Laing, 2011, PloS one.

The Procedure of Muscle Biopsy

Caroline Sewry, V. Dubowitz, C. Sewry, 2020, Muscle Biopsy.

Paraffin wax embedded muscle is suitable for the diagnosis of muscular dystrophy

C. Sewry, 2002, Journal of Clinical Pathology.

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

F. Muntoni, S. Clément, N. Romero, 2007, Annals of neurology.

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.

Congenital muscular dystrophies.

Susan C. Brown, E. Mercuri, F. Muntoni, 2002, Seminars in pediatric neurology.

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.

Muscle Biopsy: A Practical Approach

V. Dubowitz, C. Sewry, A. Oldfors, 2020 .

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene

Susan C. Brown, K. Pelin, E. Mercuri, 2001, Neuromuscular Disorders.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

K. Pelin, F. Muntoni, R. Sutphen, 1999, Nature Genetics.

M. Main, F. Muntoni, A. Manzur, 2014, Neuromuscular Disorders.

Consensus Statement on Standard of Care for Congenital Myopathies

Ching H. Wang, E. Bertini, M. Schroth, 2012, Journal of child neurology.

A chemical chaperone improves muscle function in mice with a RyR1 mutation

Amy D. Hanna, Corey L. Reynolds, E. Sahin, 2017, Nature Communications.

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

M. Swash, F. Muntoni, Haiyan Zhou, 2009, Neuromuscular Disorders.

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Susan C. Brown, E. Bertini, M. Swash, 2007, Brain : a journal of neurology.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

M. Swash, G. Bydder, F. Muntoni, 2005, Neurology.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

G. Bydder, J. Allsop, E. Mercuri, 2004, Neuromuscular Disorders.

The spectrum of pathology in central core disease

T. Helliwell, N. Laing, R. Quinlivan, 2002, Neuromuscular Disorders.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.

S. Clément, B. Ilkovski, K. North, 2005, Neuromuscular disorders : NMD.

Electron Microscopy in Skeletal Muscle Pathology

C. Sewry, E. Curtis, 2013 .

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

K. Pelin, K. Bushby, F. Muntoni, 2006, Human mutation.

Abnormalities in α-, β- and γ-sarcoglycan in patients with limb-girdle muscular dystrophy

K. Bushby, V. Dubowitz, C. Sewry, 1996, Neuromuscular Disorders.

Demyelinating Peripheral Neuropathy in Merosin-Deficient Congenital Muscular Dystrophy

F. Muntoni, V. Dubowitz, C. Sewry, 1995, Journal of child neurology.

Immunocytochemical analysis of human muscular dystrophy

C. Sewry, 2000, Microscopy research and technique.

Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression

F. Muntoni, V. Arechavala-Gomeza, M. Kinali, 2009, Neuropathology and applied neurobiology.

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.

K. Bushby, V. Dubowitz, C. Sewry, 1996, Neuromuscular disorders : NMD.

Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review

F. Muntoni, A. Manzur, C. Sewry, 2019, Neuromuscular Disorders.

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

F. Muntoni, A. Aloysius, F. Muntoni, 2008, Journal of Neuroimmunology.

Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome

L. Brueton, C. Sewry, P. Cox, 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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.

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

F. Muntoni, S. Manilal, F. Leturcq, 1998, Human molecular genetics.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Joshua S. Clayton, K. Pelin, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

C. Sewry, Steven B Marston, M. Mirza, 2004, Neuromuscular Disorders.

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

Caroline A. Sewry, C. Sewry, R. Roberts, 2001, Human Genetics.

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

T. Jacques, Amanda J Murphy, N. Dlamini, 2013, Neuromuscular Disorders.

Definition of pathological changes seen in muscle biopsies

Caroline A. Sewry, V. Dubowitz, C. Sewry, 2007 .

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.

S. Manilal, C. Sewry, G. Morris, 1996, Human molecular genetics.

The Distribution of Emerin and Lamins in X-Linked Emery-Dreifuss Muscular Dystrophy

S. Manilal, C. Sewry, I. Holt, 2002 .

Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

F. Muntoni, Jacqueline A Taylor, V. Dubowitz, 1998, Neuromuscular Disorders.

Myoblasts fail to stimulate T cells but induce tolerance.

R. Lechler, D. Watt, C. Sewry, 1994, International immunology.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Susan C. Brown, E. Mercuri, F. Muntoni, 2006, Brain : a journal of neurology.

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

C. Sewry, J. Brook, Laura E. Machuca-Tzili, 2006, Human Genetics.

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

S. Shirran, C. Shanahan, C. Sewry, 2019, Scientific Reports.

Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms

N. Duong, C. Shanahan, C. Sewry, 2014, PloS one.

Inclusion body myositis MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008

M. G. Hanna, J. Holton, M. Hanna, 2010, Neuromuscular Disorders.

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.

Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study

Susan C. Brown, E. Mercuri, F. Muntoni, 2002, Neurology.

Central core disease: new findings in an old disease.

F. Muntoni, C. Sewry, Francesco Muntoni, 2003, Brain : a journal of neurology.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Susan C. Brown, G. Bydder, E. Mercuri, 2002, Neurology.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

J. Holton, B. Küsters, N. Voermans, 2019, Journal of Neurology.

The role of immunocytochemistry in congenital myopathies

C. Sewry, Caroline Sewry, 1998, Neuromuscular Disorders.

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

E. Mercuri, F. Muntoni, C. Wallgren‐Pettersson, 2003, Neuromuscular Disorders.

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1?

F. Muntoni, Jacqueline A Taylor, V. Dubowitz, 1997, Neuromuscular Disorders.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Histochemical and immunocytochemical studies in neuromuscular diseases

C. Sewry, 1994 .

Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

F. Muntoni, C. Sewry, A. Foley, 2014, Neuromuscular Disorders.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

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

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

Congenital muscular dystrophy: molecular and cellular aspects

Susan C. Brown, F. Muntoni, C. Sewry, 2005, Cellular and Molecular Life Sciences CMLS.

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

J. Allsop, E. Mercuri, F. Muntoni, 2003, Neuromuscular Disorders.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

F. Muntoni, N. Clarke, Michael A. Gonzalez, 2015, Brain : a journal of neurology.

Double lamin-emerin and lamin-desmin trouble

Francesco Muntoni, Sc Brown, Pascale Richard, 2005 .

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

E. Bertini, M. Simpson, H. Goebel, 2012, Nature Genetics.

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

B. Tseng, Ching H. Wang, E. Bertini, 2010, Journal of child neurology.

Primary or secondary laminin-alpha 2 deficiency?

Francesco Muntoni, Sc Brown, Caroline A. Sewry, 2004 .

RYR1 gene genotype-phenotype and functional correlative studies in central core disease and multi-minicore disease

Francesco Muntoni, H Zhou, S Treves, 2005 .

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.

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

Martin Brockington, Francesco Muntoni, Sc Brown, 2002 .

Minicore myopathy in children: a clinical and histopathological study of 19 cases

E. Mercuri, K. Bushby, F. Muntoni, 2000, Neuromuscular Disorders.

Dystroglycan expression during muscle development

Francesco Muntoni, Sc Brown, Lucy Feng, 2002 .

Confusing muscle pathology in a child with distal weakness

Joanna Poulton, Francesco Muntoni, Caroline A. Sewry, 2015 .

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

K. Pelin, C. Wallgren‐Pettersson, C. Sewry, 2018, Scientific Reports.

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

C. Sewry, T. Willis, A. Oldfors, 2016, Journal of Neurology.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

B. Engelen, F. Muntoni, N. Voermans, 2013, Journal of Neurology.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Dystrophin quantification

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

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.

L. Mestroni, F. Muntoni, C. Cianchetti, 1995, The Journal of clinical investigation.

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 .

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

Christophe Ampe, C. Ampe, L. Hao, 2005, Experimental cell research.

Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.

L. Mestroni, F. Muntoni, G. Sinagra, 2000, Circulation.

How much dystrophin to avoid muscular dystrophy

Francesco Muntoni, Luciano Merlini, Alessandra Ferlini, 2007 .

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)

F. Muntoni, N. Romero, H. Bokhoven, 2003, Neuromuscular Disorders.

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.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

I. Nonaka, Y. Hayashi, I. Nishino, 2011, American journal of human genetics.

M. Main, M. Pane, E. Mercuri, 2011, Neuromuscular Disorders.

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

J. Bourke, E. Mercuri, K. Bushby, 2004, Archives of neurology.

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.

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

G. Bydder, F. Muntoni, F. Cowan, 1999, Neuromuscular Disorders.

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Neuromuscular Disorders.

Zebra body myopathy resolved

Francesco Muntoni, Janice L. Holton, David Dick, 2009 .

D.P.4.10 Muscleblind-like proteins: Similarities and differences in normal and myotonic dystrophy muscle

G. Butler-Browne, V. Jacquemin, D. Furling, 2008, Neuromuscular Disorders.

Comprar Muscle Biopsy: A Practical Approach, 4th Edition | Caroline A. Sewry | 9780702043406 | Saunders

Caroline A. Sewry, V. Dubowitz, C. Sewry, 2013 .

The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking

D. Vaux, E. C. Schirmer, C. Sewry, 2005, Journal of Molecular Histology.

Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy

F. Muntoni, E. Bertini, H. Jungbluth, 2005 .

Chapter 31 Immunopathology and molecular genetics of dystrophinopathies

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

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

David Hilton-Jones, Janice L Holton, Caroline Sewry, 2014, BMJ Open.

The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss

F. Muntoni, C. Sewry, M. Greener, 2002, European Journal of Human Genetics.

Characterisation of dystrophin during development of human skeletal muscle.

A. Clerk, C. Sewry, P. Strong, 1992, Development.

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

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

Exon-specific dystrophin antibodies for studies of Duchenne muscular dystrophy

C. Sewry, G. Morris, N. Man, 2010 .

Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies

G. Pall, C. Sewry, Keith J. Johnson, 2005, Journal of cellular biochemistry.

K. Davies, V. Dubowitz, A. Clerk, 1993, The Histochemical Journal.

K. Davies, V. Dubowitz, A. Clerk, 2004, The Histochemical Journal.

Pergamon EXPRESSION OF DYSTROPHIN-ASSOCIATED GLYCOPROTEINS AND UTROPHIN IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY

C. Sewry, M. K., M. K., 2004 .

Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin.

V. Dubowitz, C. Sewry, G. Morris, 1995, American journal of medical genetics.

Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy

K. Campbell, V. Dubowitz, K. Matsumura, 1994, Neuromuscular Disorders.

Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two South Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy

K. Campbell, V. Dubowitz, K. Matsumura, 1994, Neuromuscular Disorders.

Experimental regeneration in canine muscular dystrophy—1. Immunocytochemical evaluation of dystrophin and β-spectrin expression

V. Dubowitz, B. Cooper, C. Sewry, 1992, Neuromuscular Disorders.

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients

Susan C. Brown, J. Hewitt, C. Sewry, 2015, Neuromuscular Disorders.

Dystrophin abnormalities in polymyositis and dermatomyositis

T. Vyse, V. Dubowitz, A. Clerk, 1991, Neuromuscular Disorders.

Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?

E. Mercuri, K. Bushby, F. Muntoni, 1999, Muscle & nerve.

Lectin blotting of human muscle Identification of a high molecular weight glycoprotein which is absent or altered in Duchenne muscular dystrophy

V. Dubowitz, M. Dunn, C. Sewry, 1985, Journal of the Neurological Sciences.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

A. Forrest, F. Muntoni, G. Ravenscroft, 2018, Human molecular genetics.

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

C. de Toma, K. Campbell, Y. Sunada, 1997, Journal of medical genetics.

Maternal Contamination at Fetal Muscle Biopsy

N. Fisk, S. Holder, C. Sewry, 2000, Fetal Diagnosis and Therapy.

Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy

V. Dubowitz, C. Sewry, S. Robb, 1997, Developmental medicine and child neurology.

Experimental regeneration in canine muscular dystrophy—2. Expression of myosin heavy chain isoforms

V. Dubowitz, B. Cooper, C. Sewry, 1994, Neuromuscular Disorders.

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.

Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

F. Muntoni, M. D'alessandro, V. Dubowitz, 1998, Neuromuscular Disorders.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance

F. Muntoni, V. Dubowitz, A. Manzur, 1998, Neuromuscular Disorders.

High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy

D. Dubowitz, J. Tyszka, R. Moats, 2000, Neuromuscular Disorders.

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

G. Gyapay, F. Muntoni, V. Dubowitz, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Ion channel disorders

V. Dubowitz, C. Sewry, 2002, Journal of the Neurological Sciences.

Selected disorders of carbohydrate metabolism

R. Beynon, R. Quinlivan, C. Sewry, 2001 .

McArdle disease: a clinical review

M. Rose, C. Bruno, J. Vissing, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?

G. Brown, C. Sewry, K. Morten, 1995, Journal of Inherited Metabolic Disease.

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.

A. Roberts, R. Quinlivan, C. Sewry, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Notechis scutatus venom increases the yield of proliferating muscle cells from biopsies of normal and dystrophic canine muscle—A possible source for myoblast transfer studies

V. Dubowitz, B. Cooper, C. Sewry, 1993, Neuromuscular Disorders.

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.

F. Muntoni, C. Sewry, C. Longman, 2004, Pediatric neurology.

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

K. Pelin, F. Muntoni, V. Lehtokari, 2015, Journal of neuromuscular diseases.

Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

F. Muntoni, M. D'alessandro, V. Dubowitz, 1999, Human Genetics.

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

Influenza A and rhabdomyolysis.

C. Sewry, W. Foulkes, J. Rees, 1990, The Journal of infection.

Rhabdomyolysis after intramuscular iron-dextran in malabsorption.

C. Sewry, W. Foulkes, H. Hodgson, 1991, Annals of the rheumatic diseases.

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

G. Brown, M. Zeviani, F. Muntoni, 2011, Journal of Medical Genetics.

Hypoparathyroidism presenting as myopathy with raised creatine kinase.

C. Sewry, R. Butler, M. Davie, 2001, Rheumatology.

Immunolocalization of complement component C9 on necrotic and non-necrotic muscle fibres in myositis using monoclonal antibodies: a primary role of complement in autoimmune cell damage.

K. Siddle, A. Campbell, J. Luzio, 1984, Immunology.

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

Robert W. Taylor, K. Bushby, I. Horrocks, 2013, Acta Neuropathologica.

International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials.

S. Marie, B. Harding, B. Banwell, 2007, Arthritis and rheumatism.

Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

C. Sewry, E. Said, D. Soler, 2012, American journal of medical genetics. Part A.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

G. Bydder, F. Muntoni, S. Counsell, 2001, Neuromuscular Disorders.

Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy

G. Bydder, E. Mercuri, F. Muntoni, 2001, Neuromuscular Disorders.

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status

G. Bydder, E. Mercuri, F. Muntoni, 1999, Neuromuscular Disorders.

Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.

E. Mercuri, F. Muntoni, S. Anker, 1998, Pediatric neurology.

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.

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

E. Mercuri, F. Muntoni, F. Cowan, 1996, Neuromuscular Disorders.

Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Neuropediatrics.

Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.

G. Bydder, F. Muntoni, F. Cowan, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY

Dubowitz, E. Mercuri, F. Muntoni, 1995 .

Immunological Reagents and Amplification Systems

C. Sewry, Q. Lu, 2001 .

Activity of creatine kinase in sera from healthy women, carriers of Duchenne muscular dystrophy and cord blood, determined by the "European" recommended method with NAC-EDTA activation.

V. Dubowitz, C. Sewry, D. Moss, 1981, Clinica chimica acta; international journal of clinical chemistry.

An unusual case of hyperekplexia.

E. Mercuri, F. Muntoni, A. Manzur, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

F. Muntoni, T. Jacques, M. Scoto, 2013, European Journal of Human Genetics.

Lobulated fibers in neuromuscular diseases

V. Dubowitz, C. Sewry, M. Guerard, 1985, Journal of the Neurological Sciences.

Binding of Ricinus communis I lectin to developing dystrophic muscle in human fetus

V. Dubowitz, M. Dunn, T. Voit, 1988, Journal of the Neurological Sciences.

G.P.117 Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV)

J. Holton, R. Haller, J. Vissing, 2015, Neuromuscular Disorders.

The structure and function of complement component C8 investigated with monoclonal antibodies

A. Campbell, J. Luzio, C. Sewry, 1987 .

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease

S. Marie, T. Jacques, B. Banwell, 2013, Annals of the rheumatic diseases.

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

E. Mercuri, F. Muntoni, M. Kinali, 2004, Neuromuscular Disorders.

Metabolic myopathies I: Glycogenoses

V. Dubowitz, C. Sewry, 2007 .

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

F. Muntoni, E. Özer, S. Çırak, 2011, Neuromuscular Disorders.

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

E. Mercuri, F. Muntoni, S. Counsell, 2000, Neuropediatrics.

G.P.12.08 Zebra body myopathy resolved

F. Muntoni, T. Jacques, J. Holton, 2009, Neuromuscular Disorders.

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Susan C. Brown, E. Mercuri, K. Bushby, 2004, Neuropediatrics.

Molecular Genetics of Emery–Dreifuss Muscular Dystrophy

C. Sewry, G. Morris, M. Wehnert, 2010 .

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

Susan C. Brown, E. Mercuri, F. Muntoni, 2005, Muscle & nerve.

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

E. Mercuri, F. Muntoni, E. Bertini, 2007, Neuromuscular Disorders.

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.

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

F. Muntoni, Jacqueline A Palace, A. Manzur, 2013, Neuromuscular Disorders.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, F. Muntoni, P. Nihoyannopoulos, 2009, The Lancet. Neurology.

Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expression

F. Muntoni, Jacqueline A Taylor, V. Dubowitz, 1998, Neurology.

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

F. Muntoni, V. Dubowitz, S. Manilal, 1997, Neuromuscular Disorders.

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.

Diaphragmatic spinal muscular atrophy with bulbar weakness.

E. Mercuri, F. Muntoni, V. Dubowitz, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Recessive MYH7-related myopathy in two families

G. Ravenscroft, C. Ottenheijm, N. Laing, 2019, Neuromuscular Disorders.

Nemaline myopathies.

N. Laing, C. Wallgren‐Pettersson, C. Sewry, 2011, Seminars in pediatric neurology.

Common Data Elements for Muscle Biopsy Reporting.

H. Goebel, Ke Yan, Y. Hayashi, 2016, Archives of pathology & laboratory medicine.

Nemaline myopathy : current concepts

France, Australia, Finland., 2022 .

Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes.

E. Mercuri, F. Muntoni, S. Henderson, 1995, Neuropediatrics.