M. Brockington

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

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular–eye–brain loci: report of three siblings

F. Muntoni, F. Lubieniecki, A. Taratuto, 2001, Neuromuscular Disorders.

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.

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

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

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

A. Harding, M. Sweeney, M. Hanna, 1995, Brain : a journal of neurology.

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

J. Cooper, A. Schapira, A. Harding, 1995, Biochimica et biophysica acta.

Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy

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

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.

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.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

F. Muntoni, H. Brunner, W. Dobyns, 2004, Journal of Medical Genetics.

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.

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.

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

A. Harding, M. Sweeney, M. Brockington, 1993, Brain : a journal of neurology.

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.

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

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

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

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.

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

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

Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA

C. Woodward, O. Smith, M. Brockington, 1995, British journal of haematology.

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

Martin Brockington, Francesco Muntoni, Sc Brown, 2002 .

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

A. Harding, M. Sweeney, M. Brockington, 1991, The Lancet.

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

Martin Brockington, Francesco Muntoni, Sc Brown, 2006 .

FKRP mutation in a patient with Walker-Warburg syndrome

C Longman, Dbv de Bernabe, Martin Brockington, 2003 .

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.

Cellular localisation of wild type and mutated FKRP

Martin Brockington, Francesco Muntoni, Sc Brown, 2004 .

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.

Glycosylation eases muscular dystrophy

Susan C. Brown, F. Muntoni, M. Brockington, 2004, Nature Medicine.

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 .

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.

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

J. Allsop, E. Mercuri, F. Muntoni, 2004, Archives of neurology.

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

A. Harding, M. Davis, M. Sweeney, 1992, American journal of human genetics.

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

R. Houlston, F. Muntoni, L. Sagi, 2005, Human Genetics.

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

F. Scaravilli, A. Harding, M. Brockington, 1995, Journal of the Neurological Sciences.

A tandem duplication in the D–loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

A. Harding, M. Sweeney, M. Brockington, 1993, Nature Genetics.

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

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

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

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

Merosin-positive congenital muscular dystrophy: a large inbred family.

F. Muntoni, A. Pizzi, K. Bushby, 1999, Neuropediatrics.

The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies.

F. Muntoni, M. Brockington, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

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