Lista de obras - Steven A Moore - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 1980

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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 ⬇️

artículo científico publicado el 1 de abril de 1991

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

artículo científico publicado en 1994

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 1990

Cerebral microvascular smooth muscle in tissue culture.

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 1997

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

artículo científico publicado en 2020

CpG DNA induces cyclooxygenase-2 expression and prostaglandin production.

artículo científico publicado en 2001

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

artículo científico publicado en 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.

artículo científico publicado en 2002

Demonstration of adenosine receptors on mouse cerebral smooth muscle membranes.

artículo científico publicado en 1984

Diagnostic approach to the congenital muscular dystrophies

artículo científico publicado en 2014

Differential Metabolism of Hydroxyeicosatetraenoic Acid Isomers by Mouse Cerebromicrovascular Endothelium ⬇️

artículo científico publicado el 1 de enero de 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.

artículo científico publicado en 2002

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

artículo científico publicado en 2000

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

artículo científico publicado en 1999

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

artículo científico

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

artículo científico publicado en 2017

Dysferlin-deficient muscular dystrophy features amyloidosis.

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2019

Expression and vascular effects of cyclooxygenase-2 in brain.

artículo científico publicado en 1998

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

artículo científico publicado en 1998

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

artículo científico publicado en 2000

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

artículo científico publicado en 2018

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

artículo científico publicado en 2015

Ganglioglioma: 13 years of experience

artículo científico publicado el 1 de agosto de 1992

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 1981

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

artículo científico publicado en 2006

Hydroxyeicosatetraenoic acids (HETEs).

artículo científico publicado en 1988

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de mayo de 1992

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

artículo científico publicado en 2015

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.

artículo científico publicado en 1987

Joiner et al. reply.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Limb-girdle muscular dystrophy

artículo científico publicado en 2003

Limb-girdle muscular dystrophy in the United States

scientific article published on 01 October 2006

MRI spectrum of medulloblastoma

artículo científico publicado el 1 de octubre de 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Muscle fatigue increases the probability of developing hyperalgesia in mice

artículo científico publicado en 2007

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 1994

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 1998

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

artículo científico

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado el 1 de mayo de 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.

artículo científico publicado en 2015

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

artículo científico publicado en 1980

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

artículo científico publicado en 2021

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 1982

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2018

Thalamic ependymoma presenting as recurrent subarachnoid hemorrhage

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado en 2003

Uniparental disomy unveils a novel recessive mutation in POMT2

artículo científico publicado en 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.

artículo científico publicado en 1983

Urologic and gastrointestinal symptoms in the dystroglycanopathies

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Visual impairment in the absence of dystroglycan

artículo científico publicado en 2009

What Every Neuropathologist Needs to Know: The Muscle Biopsy ⬇️

artículo científico publicado en 2020

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

scientific journal article

Lista de obras de 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