Search filters

List of works by Arthur Burghes

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

scientific article published on 3 October 2005

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

scientific article published on August 1, 1992

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

scientific article published on November 15, 1994

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

scientific article

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

scientific article

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

scientific article published on 01 August 1993

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

scientific article published in May 1994

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

scientific article

A positive modifier of spinal muscular atrophy in the SMN2 gene

scientific article

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

scientific article published in September 2005

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

scientific article published on December 20, 2011

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

scientific article

Absence of gemin5 from SMN complexes in nuclear Cajal bodies

scientific article

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.

scientific article

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

article

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy ⬇️

scientific article published on May 1, 2013

Antisense oligonucleotides and spinal muscular atrophy: skipping along.

scientific article

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

scientific article

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

scientific article published on 30 March 2023

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

scientific article published on 21 January 2016

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

scientific article published on 01 February 1997

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

scientific article published on 25 February 2014

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

scientific article published on 30 December 2013

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

scientific article

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

scientific article published on 01 February 1997

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

scientific article published on 01 November 2005

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

scientific article

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

scientific article

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

scientific article published on January 2014

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

scientific article published on 25 September 2015

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

scientific article published on 01 May 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 ⬇️

scientific article published on March 1, 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.

scientific article published on 28 March 2011

Genetics. The land between Mendelian and multifactorial inheritance

scientific article published on 01 September 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

scientific article

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

scientific article published on 01 November 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

scientific article published in Journal of Biological Chemistry

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

scientific article

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

scientific article

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

scientific article

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy ⬇️

scientific article published on April 22, 2013

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

scientific article

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

scientific article

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

scientific article published on July 1983

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

scientific article published on September 2003

Linkage mapping of the spinal muscular atrophy gene

scientific article published on 01 March 1994

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

scientific article

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.

scientific article published in January 1995

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

scientific article

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

scientific article published on 01 September 1997

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

scientific article published on 23 March 2018

Natural history of infantile-onset spinal muscular atrophy.

scientific article published on 17 November 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

scientific article

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.

scientific article

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

scientific article (publication date: May 2001)

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

scientific article published on January 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

scientific article published on 2 July 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.

scientific article

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

scientific article published on 02 October 2007

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.

scientific article published on April 1995

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

scientific article

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

scientific article published on 20 March 2013

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

scientific article published on January 2017

SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

scientific article

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

scientific article

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

scientific article

SMN oligomerization defect correlates with spinal muscular atrophy severity

scientific article published on 01 May 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

scientific article published in November 2017

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

scientific article

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

scientific article published in October 2006

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

scientific article published on 19 January 2008

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

scientific article

Temporal requirement for high SMN expression in SMA mice

scientific article

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

scientific article

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

scientific article published on 01 February 2008

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

scientific article

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

scientific article published on 05 August 2014

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

scientific article published on 27 December 2015

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

scientific article published on September 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 ⬇️

scientific article published on August 1, 1997

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

scientific article

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

scientific article published on November 1994

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

scientific article published on 01 January 2001

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

scientific article published on November 2003

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

scientific article published on 22 November 2016

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

scientific article published on July 1, 1997

Paulina is supported by:

About Paulina

Help