List of works - Steven A Moore

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B.

scientific article published on 22 November 2016

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

scientific article published in March 2018

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency

scientific article published on 21 April 2018

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

scientific article published on 11 January 2014

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

scientific article published on 26 December 2019

A quantitative comparison of motor and sensory conduction velocities in short- and long-term streptozotocin- and alloxan-diabetic rats

scientific article published on 01 October 1980

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

scientific article published on 02 March 2019

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

scientific article published on 01 April 2019

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

scientific article published on 08 June 2018

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

scientific article

Acute and chronic exposure of mouse cerebral microvessel endothelial cells to increased concentrations of glucose and galactose: Effect on myo-inositol metabolism, PGE2 synthesis, and transport activity ⬇️

scientific article published on April 1, 1991

Astrocyte-derived lipoxygenase product evokes endothelium-dependent relaxation of the basilar artery

scientific article published on 01 June 1994

Astrocytes in the rat nucleus tractus solitarii are critical for cardiovascular reflex control.

scientific article published on November 2013

Astrocytes, not neurons, produce docosahexaenoic acid (22:6 omega-3) and arachidonic acid (20:4 omega-6)

scientific article published on 01 February 1991

Ataluren treatment of patients with nonsense mutation dystrophinopathy

scientific article

Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.

scientific article published on 7 September 2017

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

scientific article published on October 2005

Brain expression of inducible cyclooxygenase 2 messenger RNA in rats undergoing cardiopulmonary bypass.

scientific article published in December 2001

Brain microvessels produce 12-hydroxyeicosatetraenoic acid

scientific article published on 01 August 1989

Brain uptake and utilization of fatty acids: applications to peroxisomal biogenesis diseases.

scientific article

Brain uptake and utilization of fatty acids: recommendations for future research.

scientific article published in April 2001

CaMKII determines mitochondrial stress responses in heart

scientific journal article

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

scientific article

Carotid-cavernous sinus thrombosis caused by Aspergillus fumigatus: magnetic resonance imaging with pathologic correlation--a case report.

scientific article published in August 1990

Cerebral microvascular smooth muscle in tissue culture.

scientific article published on June 1984

Cervical epidural hematoma secondary to an extradural vascular malformation in an infant: case report

scientific article published on 01 March 1995

Child Neurology: LAMA2 muscular dystrophy without contractures.

scientific article published in May 2017

Chymopapain-induced reduction of proinflammatory phospholipase A2 activity and amelioration of neuropathic behavioral changes in an in vivo model of acute sciatica.

scientific article

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

scientific article published in November 2016

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G

article

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

scientific article published on September 2008

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

scientific article

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

scientific article published on 30 June 2020

CpG DNA induces cyclooxygenase-2 expression and prostaglandin production.

scientific article

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

scientific article published on 2 March 2017

Degenerative neuropathy in insulin-treated diabetic rats

scientific article published on 01 September 1983

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

scientific article

Demonstration of adenosine receptors on mouse cerebral smooth muscle membranes.

scientific article published on July 1984

Diagnostic approach to the congenital muscular dystrophies

scientific article

Differential Metabolism of Hydroxyeicosatetraenoic Acid Isomers by Mouse Cerebromicrovascular Endothelium ⬇️

scientific article published on January 1, 1992

Differential activation of catalase expression and activity by PPAR agonists: implications for astrocyte protection in anti-glioma therapy.

scientific article published on 26 January 2013

Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

scientific article published in September 2002

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

scientific article (publication date: 2000)

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

scientific article (publication date: 20 August 1999)

Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.

scientific article published on October 2010

Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.

scientific article published in January 2017

Dysferlin-deficient muscular dystrophy features amyloidosis.

scientific article

Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.

scientific article

Dystrophinopathy muscle biopsies in the genetic testing era: One center's data

scientific article

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

scientific article

Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes

scientific article

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

scientific article

Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.

scientific article published on December 2010

Excretion of urinary volatile metabolites in response to alloxan induced diabetes of short duration in rats

scientific article published on 01 March 1982

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

scientific article published on 28 February 2019

Expression and vascular effects of cyclooxygenase-2 in brain.

scientific article published in December 1998

Expression of monocyte chemoattractant protein (MCP-1) and nitric oxide synthase-2 following cerebral trauma.

scientific article

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

scientific article published on 01 May 2000

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

scientific article published on 27 August 2015

Ganglioglioma: 13 years of experience

scientific article published on August 1, 1992

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

scientific article

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins

scientific article published on 6 September 2013

Glycogen accumulation in tibial nerves of experimentally diabetic and aging control rats

scientific article published on 01 November 1981

Hughlings Jackson and the role of the entorhinal cortex in temporal lobe epilepsy: from patient A to Doctor Z.

scientific article published on 30 August 2006

Hydroxyeicosatetraenoic acids (HETEs).

scientific article published on January 1988

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

scientific article published on 3 January 2013

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

scientific article

Identification of a functional peroxisome proliferator-activated receptor response element in the rat catalase promoter.

scientific article published in December 2002

Il-10 is a central regulator of cyclooxygenase-2 expression and prostaglandin production.

scientific article

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases.

scientific article

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

scientific article published on March 2012

Intracranial dissemination of an ACTH secreting pituitary neoplasm--a case report and review of the literature

scientific article published on May 1, 1992

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

scientific article

Isolated central nervous system angiitis first presenting as spontaneous intracranial hemorrhage

scientific article published on 01 February 1987

Isolation and culture of cells derived from human cerebral microvessels.

scientific article

Joiner et al. reply.

scientific article published in September 2014

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

scientific article published on 6 June 2004

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy

scientific journal article

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

scientific article published on 20 December 2011

Late adult-onset of X-linked myopathy with excessive autophagy

scientific article

Limb-girdle muscular dystrophy

scientific article (publication date: 2003)

Limb-girdle muscular dystrophy in the United States

scientific article published on 01 October 2006

MRI spectrum of medulloblastoma

scientific article published on October 1, 1992

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

scientific article published on 29 August 2019

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

scientific article published on 21 June 2019

Metabolism of anandamide in cerebral microvascular endothelial cells.

scientific article

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

scientific article

Muscle fatigue increases the probability of developing hyperalgesia in mice

scientific article

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

scientific article published on 16 December 2019

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature

scientific article

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

scientific article

Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway

scientific article

Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.

scientific article published on 27 March 2012

Omega-oxidation of 20-hydroxyeicosatetraenoic acid (20-HETE) in cerebral microvascular smooth muscle and endothelium by alcohol dehydrogenase 4.

scientific article

Polyunsaturated fatty acid synthesis and release by brain-derived cells in vitro.

scientific article

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

scientific article

Presentation, management and follow-up of Schilder's disease.

scientific article

Primary germinoma of the spinal cord: a case report with 28-year follow-up and review of the literature.

scientific article published on January 1995

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

scientific article published on January 2008

Rapid development of colitis in NSAID-treated IL-10-deficient mice.

scientific article published in November 2002

Receptor-linked hydrolysis of phosphoinositides and production of prostacyclin in cerebral endothelial cells

scientific article published on May 1, 1992

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

scientific article published on 08 October 2013

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

scientific article published on 24 June 2015

Reduced sensory and motor conduction velocity in 25-week-old diabetic [C57BL/Ks (db/db)] mice

scientific article published on 01 December 1980

Refractory infantile high-grade glioma containing TRK-fusion responds to larotrectinib

scientific article published on 05 January 2021

Regional localization of virus in the central nervous system of mice persistently infected with murine coronavirus JHM.

scientific article published in October 1988

Role of the blood-brain barrier in the formation of long-chain omega-3 and omega-6 fatty acids from essential fatty acid precursors

scientific article published on 01 August 1990

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Schwann cell heterogeneity--might it underlie the diversity seen in Schwann cell tumors?

scientific article published on 01 November 1994

Severe acute respiratory syndrome coronavirus infection causes neuronal death in the absence of encephalitis in mice transgenic for human ACE2.

scientific article published on 21 May 2008

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

scientific article

Structural relationships between the endogenous volatile urinary metabolites of experimentally diabetic rats and certain neurotoxins (l)

scientific article published on 01 January 1982

Sudden death and myocardial lesions after damage to catecholamine neurons of the nucleus tractus solitarii in rat

scientific article

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling

scientific article published on 01 February 2019

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

scientific article

Thalamic ependymoma presenting as recurrent subarachnoid hemorrhage

scientific article published on 01 January 1992

The effect of diabetes on leucine and fucose incorporation into PNS myelin proteins

scientific article published on 01 June 1981

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

scientific article

Undifferentiated small-cell neoplasm of the petrous apex. A case report

scientific article published on July 1, 1992

Unilateral carrageenan injection into muscle or joint induces chronic bilateral hyperalgesia in rats

scientific article published on August 2003

Uniparental disomy unveils a novel recessive mutation in POMT2

scientific article published on 10 April 2018

Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization

scientific journal article

Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion

scientific article published on 01 March 2001

Uptake of adenosine by cultured cerebral vascular smooth muscle cells.

scientific article

Urologic and gastrointestinal symptoms in the dystroglycanopathies

scientific article

Validation of a Muscle-Specific Tissue Image-Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies

scientific article published on 31 August 2018

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

scientific article

Visual impairment in the absence of dystroglycan

scientific article

What Every Neuropathologist Needs to Know: The Muscle Biopsy ⬇️

scientific article published on 11 June 2020

X-linked myopathy with excessive autophagy: a failure of self-eating

scientific journal article

List of works by Steven A Moore

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B.

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

A quantitative comparison of motor and sensory conduction velocities in short- and long-term streptozotocin- and alloxan-diabetic rats

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

Acute and chronic exposure of mouse cerebral microvessel endothelial cells to increased concentrations of glucose and galactose: Effect on myo-inositol metabolism, PGE2 synthesis, and transport activity ⬇️

Astrocyte-derived lipoxygenase product evokes endothelium-dependent relaxation of the basilar artery

Astrocytes in the rat nucleus tractus solitarii are critical for cardiovascular reflex control.

Astrocytes, not neurons, produce docosahexaenoic acid (22:6 omega-3) and arachidonic acid (20:4 omega-6)

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21.

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

Brain expression of inducible cyclooxygenase 2 messenger RNA in rats undergoing cardiopulmonary bypass.

Brain microvessels produce 12-hydroxyeicosatetraenoic acid

Brain uptake and utilization of fatty acids: applications to peroxisomal biogenesis diseases.

Brain uptake and utilization of fatty acids: recommendations for future research.

CaMKII determines mitochondrial stress responses in heart

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

Carotid-cavernous sinus thrombosis caused by Aspergillus fumigatus: magnetic resonance imaging with pathologic correlation--a case report.

Cerebral microvascular smooth muscle in tissue culture.

Cervical epidural hematoma secondary to an extradural vascular malformation in an infant: case report

Child Neurology: LAMA2 muscular dystrophy without contractures.

Chymopapain-induced reduction of proinflammatory phospholipase A2 activity and amelioration of neuropathic behavioral changes in an in vivo model of acute sciatica.

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

CpG DNA induces cyclooxygenase-2 expression and prostaglandin production.

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

Degenerative neuropathy in insulin-treated diabetic rats

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

Demonstration of adenosine receptors on mouse cerebral smooth muscle membranes.

Diagnostic approach to the congenital muscular dystrophies

Differential Metabolism of Hydroxyeicosatetraenoic Acid Isomers by Mouse Cerebromicrovascular Endothelium ⬇️

Differential activation of catalase expression and activity by PPAR agonists: implications for astrocyte protection in anti-glioma therapy.

Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain.

Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.

Dysferlin-deficient muscular dystrophy features amyloidosis.

Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.

Dystrophinopathy muscle biopsies in the genetic testing era: One center's data

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.

Excretion of urinary volatile metabolites in response to alloxan induced diabetes of short duration in rats

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

Expression and vascular effects of cyclooxygenase-2 in brain.

Expression of monocyte chemoattractant protein (MCP-1) and nitric oxide synthase-2 following cerebral trauma.

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Ganglioglioma: 13 years of experience

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins

Glycogen accumulation in tibial nerves of experimentally diabetic and aging control rats

Hughlings Jackson and the role of the entorhinal cortex in temporal lobe epilepsy: from patient A to Doctor Z.

Hydroxyeicosatetraenoic acids (HETEs).

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Identification of a functional peroxisome proliferator-activated receptor response element in the rat catalase promoter.

Il-10 is a central regulator of cyclooxygenase-2 expression and prostaglandin production.

Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases.

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

Intracranial dissemination of an ACTH secreting pituitary neoplasm--a case report and review of the literature

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

Isolated central nervous system angiitis first presenting as spontaneous intracranial hemorrhage

Isolation and culture of cells derived from human cerebral microvessels.

Joiner et al. reply.

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy