S. Brown

发表

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

F. Muntoni, M. Kaluarachchi, R. Piercy, 2008, Brain : a journal of neurology.

Evidence of early defects in Cajal–Retzius cell localization during brain development in a mouse model of dystroglycanopathy

S. Brown, H. Booler, V. Pagalday-Vergara, 2017, Neuropathology and applied neurobiology.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy

K. Pelin, F. Muntoni, C. Wallgren‐Pettersson, 2001, Neuromuscular Disorders.

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Susan C. Brown, K. Bushby, F. Muntoni, 2006, Neuromuscular Disorders.

Muscular dystrophies due to defective glycosylation of dystroglycan.

E. Mercuri, F. Muntoni, M. Kinali, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Susan C. Brown, F. Muntoni, H. Topaloglu, 2003, Neurology.

Spermatogenesis associated 22 is required for DNA repair and synapsis of homologous chromosomes in mouse germ cells

E. Hays, S. La Salle, S. Brown, 2017, Andrology.

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.

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.

Enhanced expression of recombinant dystrophin following intramuscular injection of Epstein–Barr virus (EBV)-based mini-chromosome vectors in mdx mice

G. Dickson, D. Wells, P. Strong, 1999, Gene Therapy.

Genetic correction of dystrophin deficiency and skeletal muscle remodeling in adult MDX mouse via transplantation of retroviral producer cells.

A. Fassati, F. Walsh, G. Dickson, 1997, The Journal of clinical investigation.

Artificial antisense RNA regulation of YBR1012 (YBR136w ), an essential gene from Saccharomyces cerevisiae which is important for progression through G1/S

C. Herbert, P. Slonimski, A. Bécam, 1995, Molecular and General Genetics MGG.

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.

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

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

Duchenne muscular dystrophy.

G. Dickson, S. Brown, 1995, Molecular and cell biology of human diseases series.

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.

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.

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.

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.

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

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

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?

D. Wells, J. Hildyard, S. Brown, 2016, PloS one.

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.

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.

Dystrophic phenotype induced in vitro by antibody blockade of muscle alpha-dystroglycan-laminin interaction.

K. Campbell, A. Fassati, L. Popplewell, 1999, Journal of cell science.

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

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

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.

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.