Lista de obras - Sue Brown - Dominio Público Uruguay

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

artículo científico publicado en 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).

artículo científico publicado en 2003

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.

artículo científico publicado en 2002

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

article

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

Accessibility of T-tubule vacuoles to extracellular dextran and DNA: mechanism and potential application of vacuolation

artículo científico publicado en 1998

Altered primary and secondary myogenesis in the myostatin-null mouse

artículo científico publicado en 2010

Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes

artículo científico publicado en 2014

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and [...]

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 2004

Congenital muscular dystrophy: molecular and cellular aspects.

artículo científico publicado en 2005

Defective glycosylation in congenital muscular dystrophies

artículo científico publicado en 2004

Defective glycosylation in muscular dystrophy

artículo científico publicado en 2002

Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse.

artículo científico publicado en 2012

Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy

artículo científico publicado en 2015

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11–13 November 2011, Naarden, The Netherlands ⬇️

artículo científico publicado el 19 de marzo de 2012

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

scholarly article by Marcella Neri et al published December 2007 in Neuromuscular Disorders

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

artículo científico publicado en 2001

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

artículo científico publicado en 1999

Enhanced expression of the P2X4 receptor in Duchenne muscular dystrophy correlates with macrophage invasion

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

artículo científico publicado en 2006

Fukutin-related protein alters the deposition of laminin in the eye and brain

artículo científico publicado en 2011

Functional requirements for fukutin-related protein in the Golgi apparatus

scientific journal article

Glycosylation eases muscular dystrophy

artículo científico publicado en 2004

International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA

artículo científico publicado en 2008

Investigating the pathology of Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2000

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

artículo científico publicado en 2007

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

scientific article published on 01 January 2002

Muscle development genes: their relevance in neuromuscular disorders

artículo científico publicado en 2002

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

article

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

artículo científico

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

artículo científico publicado en 2003

Occipito-temporal polymicrogyria and subclinical muscular dystrophy

artículo científico publicado en 2003

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

artículo científico publicado en 2003

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

artículo científico publicado en 2004

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies

artículo científico

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA

artículo científico publicado en 2012

Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA.

artículo científico publicado en 2011

Skeletal muscle involvement in infantile systemic hyalinosis

article

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

scientific article published on 01 August 2001

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

scientific journal article

Sun, Surf and Science

scientific article published on 15 February 2012

Syncoilin upregulation in muscle of patients with neuromuscular disease

artículo científico publicado en 2005

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

scientific article published on 01 March 2001

The cardiac expression of striated muscle LIM protein 1 (SLIM1) is restricted to the outflow tract of the developing heart

artículo científico publicado en 1999

The dystrophin-glycoprotein complex in brain development and disease.

artículo científico

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

article

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

artículo científico publicado en 2013

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA

scientific article published on 03 March 2014

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

artículo científico publicado en 2016

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

artículo científico publicado en 2005

Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

artículo científico publicado en 1997

Lista de obras de Sue Brown

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

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).

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.

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

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

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

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

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

Accessibility of T-tubule vacuoles to extracellular dextran and DNA: mechanism and potential application of vacuolation

Altered primary and secondary myogenesis in the myostatin-null mouse

Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and [...]

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

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

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

Congenital muscular dystrophy: molecular and cellular aspects.

Defective glycosylation in congenital muscular dystrophies

Defective glycosylation in muscular dystrophy

Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse.

Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy

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

Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11–13 November 2011, Naarden, The Netherlands ⬇️

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

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

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

Enhanced expression of the P2X4 receptor in Duchenne muscular dystrophy correlates with macrophage invasion

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

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

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Fukutin-related protein alters the deposition of laminin in the eye and brain

Functional requirements for fukutin-related protein in the Golgi apparatus

Glycosylation eases muscular dystrophy

International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA

Investigating the pathology of Emery-Dreifuss muscular dystrophy

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

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

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

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

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

Muscle development genes: their relevance in neuromuscular disorders

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

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

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

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

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Occipito-temporal polymicrogyria and subclinical muscular dystrophy

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

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

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

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

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

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

Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA

Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA.

Skeletal muscle involvement in infantile systemic hyalinosis

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

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

Sun, Surf and Science

Syncoilin upregulation in muscle of patients with neuromuscular disease

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

The cardiac expression of striated muscle LIM protein 1 (SLIM1) is restricted to the outflow tract of the developing heart

The dystrophin-glycoprotein complex in brain development and disease.

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA

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

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy