Lista de obras - A Burghes - Dominio Público Uruguay

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

artículo científico publicado en 2005

A HindIII/BglII dystrophin gene polymorphism in the African-American population

artículo científico publicado el 1 de agosto de 1992

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region ⬇️

artículo científico publicado el 15 de noviembre de 1994

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease

artículo científico publicado en 2010

A large animal model of spinal muscular atrophy and correction of phenotype

artículo científico publicado en 2015

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

artículo científico publicado en 1993

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

artículo científico publicado en 1994

A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy

artículo científico publicado en 2006

A positive modifier of spinal muscular atrophy in the SMN2 gene

artículo científico publicado en 2009

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

artículo científico publicado en 2005

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse ⬇️

artículo científico publicado el 20 de diciembre de 2011

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

artículo científico publicado en 2003

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

artículo científico publicado en 2007

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

scientific article published on 01 August 1995

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

artículo científico publicado en 1996

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

article

Antisense oligonucleotides and spinal muscular atrophy: skipping along.

artículo científico publicado en 2010

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

artículo científico publicado en 2011

Base editing rescue of spinal muscular atrophy in cells and in mice

artículo científico publicado en 2023

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

artículo científico publicado en 2016

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

artículo científico publicado en 1997

Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy.

artículo científico publicado en 2014

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

artículo científico publicado en 2013

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

artículo científico publicado en 2005

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

scientific article published on 01 May 1991

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

artículo científico publicado en 1997

Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

artículo científico publicado en 2005

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

artículo científico publicado en 2010

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

artículo científico publicado en 2009

Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.

artículo científico publicado en 2014

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles.

artículo científico publicado en 2015

Erythrocyte ghost Na+,K+-adenosine triphosphatase in Duchenne muscular dystrophy

artículo científico publicado en 1980

Erythrocyte membrane (Ca/+ + Mg/+)-activated adenosine triphosphatase in Duchenne muscular dystrophy

scientific article published on 01 February 1981

Erythrocyte-ghost Ca2+-stimulated Mg2+-dependent adenosine triphosphatase in Duchenne muscular dystrophy ⬇️

artículo científico publicado el 1 de marzo de 1982

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis

scientific article published on 01 January 1993

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene.

artículo científico publicado en 2011

Genetics. The land between Mendelian and multifactorial inheritance

artículo científico publicado en 2001

Identification and characterization of RPTP rho, a novel RPTP mu/kappa-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous system

artículo científico publicado en 1998

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

artículo científico publicado en 1992

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

scientific article published on 01 July 1994

Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron () gene

artículo científico publicado en 2018

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

artículo científico publicado en 1997

Identification of survival motor neuron as a transcriptional activator-binding protein.

artículo científico publicado en 1999

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

scientific article published on 01 March 1993

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin

artículo científico publicado en 1994

Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates

artículo científico publicado en 2014

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

artículo científico publicado en 1998

Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.

artículo científico publicado en 1983

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

artículo científico publicado en 2003

Linkage mapping of the spinal muscular atrophy gene

artículo científico publicado en 1994

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.

artículo científico publicado en 2015

Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene

scientific article published on 01 January 1989

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

artículo científico publicado en 1995

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

artículo científico publicado en 2002

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

artículo científico publicado en 1997

Muscle strength and size are associated with motor unit connectivity in aged mice.

artículo científico publicado en 2018

Natural history of infantile-onset spinal muscular atrophy.

artículo científico publicado en 2017

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

scientific article published on 01 January 1996

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

artículo científico publicado en 2016

Novel receptor protein tyrosine phosphatase (RPTPrho) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex.

artículo científico publicado en 1998

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

artículo científico publicado en 2001

Other forms of survival motor neuron protein and spinal muscular atrophy: an opinion.

artículo científico publicado en 2008

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis

scientific article published on 01 October 1991

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

artículo científico publicado en 2015

Polyacrylamide-gel-electrophoretic analysis of cultured skin fibroblasts from patients with Duchenne muscular dystrophy

scientific article published on 01 February 1981

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

artículo científico publicado en 2016

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

artículo científico

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

article

Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.

artículo científico publicado en 1995

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

artículo científico publicado en 2007

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

artículo científico publicado en 2013

SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.

artículo científico publicado en 2017

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

artículo científico publicado en 2015

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.

artículo científico publicado en 2015

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.

artículo científico publicado en 2015

SMN oligomerization defect correlates with spinal muscular atrophy severity

artículo científico publicado en 1998

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

scientific article published on 09 February 2005

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

artículo científico publicado en 2017

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

artículo científico publicado en 2009

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

artículo científico publicado en 2006

Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.

artículo científico publicado en 2008

Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders

artículo científico publicado en 2011

Temporal requirement for high SMN expression in SMA mice

artículo científico publicado en 2011

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

artículo científico publicado en 1988

The SMN binding protein Gemin2 is not involved in motor axon outgrowth

artículo científico publicado en 2008

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.

artículo científico publicado en 2014

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

artículo científico publicado en 2014

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy

artículo científico publicado en 2015

The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.

artículo científico publicado en 1993

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization

scientific article published on 01 September 2000

The survival motor neuron protein in spinal muscular atrophy ⬇️

artículo científico publicado el 1 de agosto de 1997

The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.

artículo científico publicado en 2012

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

artículo científico publicado en 1994

Use of western immunoblot for evaluation of myocardial dystrophin, alpha-sarcoglycan, and beta-dystroglycan in dogs with idiopathic dilated cardiomyopathy

artículo científico publicado en 2001

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

artículo científico publicado en 2003

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

artículo científico publicado en 2016

When Is a Deletion Not a Deletion? When It Is Converted ⬇️

artículo científico publicado el 1 de julio de 1997

Lista de obras de A Burghes

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

A HindIII/BglII dystrophin gene polymorphism in the African-American population

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region ⬇️

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease

A large animal model of spinal muscular atrophy and correction of phenotype

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy

A positive modifier of spinal muscular atrophy in the SMN2 gene

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

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse ⬇️

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

Antisense oligonucleotides and spinal muscular atrophy: skipping along.

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

Base editing rescue of spinal muscular atrophy in cells and in mice

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy.

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles.

Erythrocyte ghost Na+,K+-adenosine triphosphatase in Duchenne muscular dystrophy

Erythrocyte membrane (Ca/+ + Mg/+)-activated adenosine triphosphatase in Duchenne muscular dystrophy

Erythrocyte-ghost Ca2+-stimulated Mg2+-dependent adenosine triphosphatase in Duchenne muscular dystrophy ⬇️

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene.

Genetics. The land between Mendelian and multifactorial inheritance

Identification and characterization of RPTP rho, a novel RPTP mu/kappa-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous system

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron () gene

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

Identification of survival motor neuron as a transcriptional activator-binding protein.

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin

Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

Linkage mapping of the spinal muscular atrophy gene

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.

Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Muscle strength and size are associated with motor unit connectivity in aged mice.

Natural history of infantile-onset spinal muscular atrophy.

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

Novel receptor protein tyrosine phosphatase (RPTPrho) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex.

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

Other forms of survival motor neuron protein and spinal muscular atrophy: an opinion.

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

Polyacrylamide-gel-electrophoretic analysis of cultured skin fibroblasts from patients with Duchenne muscular dystrophy

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

SMN Blood Levels in a Porcine Model of Spinal Muscular Atrophy.

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.

SMN oligomerization defect correlates with spinal muscular atrophy severity

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?