Professor, Neurology, Jefferson Medical College-Thos Jefferson Univ
Neurology
Dr. Robert L. Barchi, MD
Robert L. Barchi practices Neurology. He went to medical school at Perelman School of Medicine at the University of Pennsylvania. He received awards:"Elected Member" and "Whos Who in Medicine and Healthcare". Doctor Robert L. Barchi, MD has written publications. He has 101 publications published with PubMed. The lastest paper is: 'Ion channel mutations affecting muscle and brain.'
Publications
- Genetic disorders of neuromuscular ion channels.
- Nomenclature of voltage-gated sodium channels.
- Scholarship in the medical faculty from the university perspective: retaining academic values.
- Altered gene expression in steroid-treated denervated muscle.
- Dual tandem promoter elements containing CCAC-like motifs from the tetrodotoxin-resistant voltage-sensitive Na+ channel (rSkM2) gene can independently drive muscle-spe...
- Interaction between the skeletal muscle type 1 Na+ channel promoter E-box and an upstream repressor element. Release of repression by myogenin.
- Ion channel mutations affecting muscle and brain.
- Phenotype and genotype in the myotonic disorders.
- Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.
- Two E-boxes are the focal point of muscle-specific skeletal muscle type 1 Na+ channel gene expression.
- Analysis of local structure in the D2/S1-S2 region of the rat skeletal muscle type 1 sodium channel using insertional mutagenesis.
- Loss of electrical excitability in an animal model of acute quadriplegic myopathy.
- Quality of care in academic neurology departments.
- Ion channel mutations and diseases of skeletal muscle.
- Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
- Opportunities and challenges in academic neurology: report of the Long Range Planning Committee of the American Neurological Association.
- Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
- Voltage-dependent sodium channels.
- Genomic organization of the human skeletal muscle sodium channel gene.
- Molecular cloning and functional analysis of the promoter of rat skeletal muscle voltage-sensitive sodium channel subtype 2 (rSkM2): evidence for muscle-specific nucle...
- Expression of the sodium channel beta 1 subunit in rat skeletal muscle is selectively associated with the tetrodotoxin-sensitive alpha subunit isoform.
- Structure, function and expression of voltage-dependent sodium channels.
- Pharmacological modulation of human cardiac Na+ channels.
- Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
- Voltage-dependent regulation of modal gating in the rat SkM1 sodium channel expressed in Xenopus oocytes.
- Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
- Localization of epitopes for monoclonal antibodies directed against the adult rat skeletal muscle sodium channel (rSkM1) using polymerase chain reaction, fusion protei...
- Molecular pathology of the skeletal muscle sodium channel.
- Ion channels and disorders of excitation in skeletal muscle.
- Sodium channel mutations and disorders of excitation in human skeletal muscle.
- Probing sodium channel cytoplasmic domain structure. Evidence for the interaction of the rSkM1 amino and carboxyl termini.
- Chloride efflux measurements in mammalian skeletal muscle.
- 20,25-diazacholesterol myotonia: an electrophysiological study.
- Fluorescent probe analysis of erythrocyte membranes in myotonic dystrophy.
- Sarcolemmal desmosterol accumulation and membrane physical properties in 20,25-diazacholesterol myotonia.
- A mechanistic approach to the myotonic syndromes.
- Cation selectivity characteristics of the reconstituted voltage-dependent sodium channel purified from rat skeletal muscle sarcolemma.
- Protein components of the purified sodium channel from rat skeletal muscle sarcolemma.
- Biochemical studies of the excitable membrane sodium channel.
- Membrane desmosterol and the kinetics of the sarcolemmal Na+,K+-ATPase in myotonia induced by 20,25-diazacholesterol.
- Functional reconstitution of the purified sodium channel protein from rat sarcolemma.
- Isolation of sodium channels from excitable tissues.
- Glycoprotein characteristics of the sodium channel saxitoxin-binding component from mammalian sarcolemma.
- Estimate of the molecular weight of the sarcolemmal sodium channel using H2O-D2O centrifugation.
- Alteration of synaptosomal plasma membrane cholesterol content: membrane physical properties and cation transport proteins.
- Ultraviolet irradiation produces loss of saxitoxin binding to sodium channels in rat synaptosomes.
- Purification from rat sarcolemma of the saxitoxin-binding component of the excitable membrane sodium channel.
- Physical probes of biological membranes in studies of the muscular dystrophies.
- Size characteristics of the solubilized sodium channel saxitoxin binding site from mammalian sarcolemma.
- Monoclonal antibodies against the voltage-sensitive Na+ channel from mammalian skeletal muscle.
- Molecular characteristics and functional reconstitution of muscle voltage-sensitive sodium channels.
- Immunocytochemical localization of the mammalian voltage-dependent sodium channel using polyclonal antibodies against the purified protein.
- Ultrastructural changes in the mucosa of frozen-preserved canine ileum.
- Rate of elimination of dimethylsulfoxide from tissues of euthermic and hypothermic rats.
- Thiamine in neural membranes. A developmental approach.
- The effect of cold on nerve conduction of human slow and fast nerve fibers.
- A membrane-associated thiamine triphosphatase from rat brain. Properties of the enzyme.
- 2'',3''-cyclic nucleotide 3''-phosphodiesterase in the nervous system. Electrophoretic properties and developmental studies.
- Thiamine in neural membranes. enzymic hydrolysis of thiamine diphosphate.
- Thiamine triphosphatase in the nervous system.
- Myotonia.
- Transmembrane calcium movement in 20,25-diazacholesterol myotonia.
- Topological localization of a segment of the eel voltage-dependent sodium channel primary sequence (AA 927-938) that discriminates between models of tertiary structure.
- Purification and functional reconstitution of the voltage-sensitive sodium channel from rabbit T-tubular membranes.
- Primary structure and functional expression of a mammalian skeletal muscle sodium channel.
- Structural inferences for the native skeletal muscle sodium channel as derived from patterns of endogenous proteolysis.
- Probing the molecular structure of the voltage-dependent sodium channel.
- Modulation of sodium-channel mRNA levels in rat skeletal muscle.
- Localization of sodium channel subtypes in adult rat skeletal muscle using channel-specific monoclonal antibodies.
- Voltage-sensitive sodium channels: an evolving molecular view.
- The voltage-sensitive sodium channel from rabbit skeletal muscle. Chemical characterization of subunits.
- Biochemistry of sodium channels from mammalian muscle.
- Monoclonal antibodies against the voltage-sensitive sodium channel from rat skeletal muscle: mapping antibody binding sites.
- Topographical localization of the C-terminal region of the voltage-dependent sodium channel from Electrophorus electricus using antibodies raised against a synthetic p...
- Developmental appearance of sodium channel subtypes in rat skeletal muscle cultures.
- Immunoaffinity isolation of Na+ channels from rat skeletal muscle. Analysis of subunits.
- Voltage-dependent activation in purified reconstituted sodium channels from rabbit T-tubular membranes.
- Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle.
- Phosphorylation of the rat skeletal muscle sodium channel by cyclic AMP-dependent protein kinase.
- SkM2, a Na+ channel cDNA clone from denervated skeletal muscle, encodes a tetrodotoxin-insensitive Na+ channel.
- Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
- Expression of sodium channel subtypes during development in rat skeletal muscle.
- Analysis of protease-sensitive regions in the skeletal muscle sodium channel in vitro and implications for channel tertiary structure.
- Molecular aspects of voltage-dependent ion channels.
- Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
- RFLP for BglII at the human skeletal muscle sodium channel locus.
- Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
- TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation.
- Localization of epitopes for antibodies that differentially label sodium sodium channels in skeletal muscle surface and T-tubular membranes.
- Lidocaine block of human heart sodium channels expressed in Xenopus oocytes.
- Sodium channel gene defects in the periodic paralyses.
- Chimeric study of sodium channels from rat skeletal and cardiac muscle.
- Expressed Na channel clones differ in their sensitivity to external calcium concentration.
- Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
- Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.
- Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.
- Myotonia. An evaluation of the chloride hypothesis.
- On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids.
- Determination of muscle cable parameters from a single membrane voltage response.
- The pathophysiology of myotonia produced by aromatic carboxylic acids.
Schools
Perelman School of Medicine University of Pennsylvania
Hospital Of The University Of Pennsylvania
Doctors Specialties
- Neurology
Accepted Insurances
Awards
- Elected Member
- Whos Who in Medicine and Healthcare
Education
-
University of Pennsylvania Health System -
Perelman School of Medicine at the University of Pennsylvania
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