The VICC.ORG Directory of Doctors, Healthcare Providers & Researchers
Alfred L. George, Jr., M.D.
See also:
Grant W. Liddle Professor of Medicine
Director, Division of Genetic Medicine
Associate Chairman for Science Education
VICC Member
Researcher
Contact Information:
Vanderbilt University Medical Center
529 Light Hall
Nashville, 37232-0275
615-936-2660
Research Specialty
Identification and characterization of human ion channel mutations
Research Description
Ion channels have an essential role in many diverse physiological processes. In muscle and heart, the generation and propagation of action potentials and ultimately the development of contraction are dependent upon a coordinated series of ion channel events. We are currently investigating the role of genetic mutations in specific ion channel genes in the molecular pathogenesis of certain hereditary disorders of striated muscle and neuronal excitability. Included in this research program is work aimed at identifying and functionally characterizing disease-producing point mutations in human voltage-dependent sodium channels, and human chloride channels. These investigations have yielded considerable new knowledge regarding the structure and function of ion channels as well as providing molecular and biophysical explanations for several interesting phenotypes including periodic paralysis, various forms of inherited myotonia, congenital long QT syndrome, and certain types of familial epilepsy. This work requires the use of molecular biological and molecular genetic techniques as well as in vitro expression studies and electrophysiology.
Publications
- George, AL Appraising the Value of Genomic Association Studies. J Am Soc Nephrol, 2008.
- Rhodes, TE, Abraham, RL, Welch, RC, Vanoye, CG, Crotti, L, Arnestad, M, Insolia, R, Pedrazzini, M, Ferrandi, C, Vege, A, Rognum, T, Roden, DM, Schwartz, PJ, George, AL Cardiac potassium channel dysfunction in sudden infant death syndrome. J Mol Cell Cardiol, 44(3), 571-81, 2008.
- Darbar, D, Kannankeril, PJ, Donahue, BS, Kucera, G, Stubblefield, T, Haines, JL, George, AL, Roden, DM Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation, 117(15), 1927-35, 2008.
- Kahlig, KM, Rhodes, TH, Pusch, M, Freilinger, T, Pereira-Monteiro, JM, Ferrari, MD, van den Maagdenberg, AM, Dichgans, M, George, AL Divergent sodium channel defects in familial hemiplegic migraine. Proc Natl Acad Sci U S A, 105(28), 9799-804, 2008.
- Kim, I, Fu, Y, Hui, K, Moeckel, G, Mai, W, Li, C, Liang, D, Zhao, P, Ma, J, Chen, XZ, George, AL, Coffey, RJ, Feng, ZP, Wu, G Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol, 19(3), 455-68, 2008.
- Sile, S, Velez, DR, Gillani, NB, Alexander, CA, Alexander, CR, George, AL, Williams, SM Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered, 65(1), 33-46, 2008.
- Misra, SN, Kahlig, KM, George, AL Impaired Na[inf]v[/inf]1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia, 2008.
- Manderfield, LJ, George, AL KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex. FEBS J, 275(6), 1336-49, 2008.
- McArdle, EJ, Kunic, JD, George, AL Novel SCN1A frameshift mutation with absence of truncated Na(V)1.1 protein in severe myoclonic epilepsy of infancy. Am J Med Genet A, 2008.
- Kang, C, Tian, C, Sönnichsen, FD, Smith, JA, Meiler, J, George, AL, Vanoye, CG, Kim, HJ, Sanders, CR Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry, 47(31), 7999-8006, 2008.
- Wang, DW, Desai, RR, Crotti, L, Arnestad, M, Insolia, R, Pedrazzini, M, Ferrandi, C, Vege, A, Rognum, T, Schwartz, PJ, George, AL Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation, 115(3), 368-76, 2007.
- Ballester, LY, Vanoye, CG, George, AL Exaggerated Mg(2+) Inhibition of Kir2.1 as a Consequence of Reduced PIP(2) Sensitivity in Andersen Syndrome. Channels (Austin), 1(3), 209-17, 2007.
- Sile, S, Gillani, NB, Velez, DR, Vanoye, CG, Yu, C, Byrne, LM, Gainer, JV, Brown, NJ, Williams, SM, George, AL Functional BSND variants in essential hypertension. Am J Hypertens, 20(11), 1176-1182, 2007.
- Platt, AR, Woodhall, RW, George, AL Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol. Biotechniques, 43(1), 58, 60, 62, 2007.
- Wilson, MH, Coates, CJ, George, AL PiggyBac Transposon-mediated Gene Transfer in Human Cells. Mol Ther, 15(1), 139-45, 2007.
- Tian, C, Vanoye, CG, Kang, C, Welch, RC, Kim, HJ, George, AL, Sanders, CR Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome. Biochemistry, 46(41), 11459-72, 2007.
- Yi, Y, Li, C, Miller, C, George, AL Strategy for encoding and comparison of gene expression signatures. Genome Biol, 8(7), R133, 2007.
- Yi, Y., Li, C., Miller, C., and George, A.L., Jr. "Strategy for encoding and comparison of gene expression signatures.." Genome Biology, 8R133, 2007.
- Smith, JA, Vanoye, CG, George, AL, Meiler, J, Sanders, CR Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry, 46(49), 14141-52, 2007.
- Ritchie, MD, Haas, DW, Motsinger, AA, Donahue, JP, Erdem, H, Raffanti, S, Rebeiro, P, George, AL, Kim, RB, Haines, JL, Sterling, TR Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis, 43(6), 779-82, 2006.
- Lundquist, AL, Turner, CL, Ballester, LY, George, AL Expression and transcriptional control of human KCNE genes. Genomics, 87(1), 119-28, 2006.
- Kahlig, KM, Misra, SN, George, AL Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J Neurosci, 26(43), 10958-66, 2006.
- Sile, S, Vanoye, CG, George, AL Molecular physiology of renal ClC chloride channels/transporters. Curr Opin Nephrol Hypertens, 15(5), 511-6, 2006.
- Ohmori, I, Kahlig, KM, Rhodes, TH, Wang, DW, George, AL Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia, 47(10), 1636-42, 2006.
- Vanoye, CG, Lossin, C, Rhodes, TH, George, AL Single-channel Properties of Human NaV1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy. J Gen Physiol, 127(1), 1-14, 2006.
- Ballester, LY, Benson, DW, Wong, B, Law, IH, Mathews, KD, Vanoye, CG, George, AL Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat, 27(4), 388, 2006.
- Darbar, D, Sile, S, Fish, FA, George, AL Congenital long QT syndrome aggravated by salt-wasting nephropathy. Heart Rhythm, 2(3), 304-6, 2005.
- Yi, Y, Mirosevich, J, Shyr, Y, Matusik, R, George, AL Coupled analysis of gene expression and chromosomal location. Genomics, 85(3), 401-12, 2005.
- Lundquist, Andrew L, Manderfield, Lauren J, Vanoye, Carlos G, Rogers, Christopher S, Donahue, Brian S, Chang, Paul A, Drinkwater, Davis C, Murray, Katherine T, George, Alfred L Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol, 38(2), 277-87, 2005.
- Wilson, MH, Kaminski, JM, George, AL Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition. FEBS Lett, 579(27), 6205-9, 2005.
- Kannankeril, PJ, Roden, DM, Norris, KJ, Whalen, SP, George, AL, Murray, KT Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives. Heart Rhythm, 2(2), 134-40, 2005.
- George, AL Inherited disorders of voltage-gated sodium channels. J Clin Invest, 115(8), 1990-9, 2005.
- Haas, DW, Smeaton, LM, Shafer, RW, Robbins, GK, Morse, GD, Labbe, L, Wilkinson, GR, Clifford, DB, D''Aquila, RT, De Gruttola, V, Pollard, RB, Merigan, TC, Hirsch, MS, George, AL, Donahue, JP, Kim, RB Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis, 192(11), 1931-42, 2005.
- Rhodes, TH, Vanoye, CG, Ohmori, I, Ogiwara, I, Yamakawa, K, George, AL Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol, 569(Pt 2), 433-45, 2005.
- Mullins, FM, Stepanovic, SZ, Gillani, NB, George, AL, Balser, JR Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels. J Physiol, 558(Pt 3), 729-44, 2004.
- Petersen, CI, McFarland, TR, Stepanovic, SZ, Yang, P, Reiner, DJ, Hayashi, K, George, AL, Roden, DM, Thomas, JH, Balser, JR In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. Proc Natl Acad Sci U S A, 101(32), 11773-8, 2004.
- George, AL Inherited Channelopathies Associated with Epilepsy. Epilepsy Curr, 4(2), 65-70, 2004.
- George, AL Molecular basis of inherited epilepsy. Arch Neurol, 61(4), 473-8, 2004.
- Rhodes, Thomas H, Lossin, Christoph, Vanoye, Carlos G, Wang, Dao W, George, Alfred L Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A, 101(30), 11147-52, 2004.
- Lossin, Christoph, Rhodes, Thomas H, Desai, Reshma R, Vanoye, Carlos G, Wang, Dao, Carniciu, Sanda, Devinsky, Orrin, George, Alfred L Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci, 23(36), 11289-95, 2003.
- Donahue, BS, Gailani, D, Higgins, MS, Drinkwater, DC, George, AL Factor V Leiden protects against blood loss and transfusion after cardiac surgery. Circulation, 107(7), 1003-8, 2003.
- Floyd, MD, Gervasini, G, Masica, AL, Mayo, G, George, AL, Bhat, K, Kim, RB, Wilkinson, GR Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics, 13(10), 595-606, 2003.
- Tapper, AR, George, AL Heterologous expression of ion channels. Methods Mol Biol, 217285-94, 2003.
- Kupershmidt, S, Yang, IC, Hayashi, K, Wei, J, Chanthaphaychith, S, Petersen, CI, Johns, DC, George, AL, Roden, DM, Balser, JR The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. FASEB J, 17(15), 2263-5, 2003.
- Donahue, BS, Byrne, DW, Gailani, D, George, AL Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. Anesthesiology, 99(6), 1287-94, 2003.
- Yang, P, Kanki, H, Drolet, B, Yang, T, Wei, J, Viswanathan, PC, Hohnloser, SH, Shimizu, W, Schwartz, PJ, Stanton, M, Murray, KT, Norris, K, George, AL, Roden, DM Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation, 105(16), 1943-8, 2002.
- Roden, DM, Balser, JR, George, AL, Anderson, ME Cardiac ion channels. Annu Rev Physiol, 64431-75, 2002.
- Wang, Dao W, Viswanathan, Prakash C, Balser, Jeffrey R, George, Alfred L, Benson, D Woodrow Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.. Circulation, 105(3), 341-6, 2002.
- Mullins, FM, Stepanovic, SZ, Desai, RR, George, AL, Balser, JR Extracellular sodium interacts with the HERG channel at an outer pore site. J Gen Physiol, 120(4), 517-37, 2002.
- Vanoye, Carlos G, George, Alfred L Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells.. J Physiol, 539(Pt 2), 373-83, 2002.
- Rogers, Christopher S, Vanoye, Carlos G, Sullenger, Bruce A, George, Alfred L Functional repair of a mutant chloride channel using a trans-splicing ribozyme.. J Clin Invest, 110(12), 1783-9, 2002.
- Lossin, Christoph, Wang, Dao W, Rhodes, Thomas H, Vanoye, Carlos G, George, Alfred L Molecular basis of an inherited epilepsy.. Neuron, 34(6), 877-84, 2002.
- Song, Luyan, Mercado, Adriana, Vázquez, Norma, Xie, Qizhi, Desai, Reshma, George, Alfred L, Gamba, Gerardo, Mount, David B Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter.. Brain Res Mol Brain Res, 103(1-2), 91-105, 2002.
- Kanki, H, Yang, P, Xie, HG, Kim, RB, George, AL, Roden, DM Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. J Cardiovasc Electrophysiol, 13(3), 252-6, 2002.
- Roden, Dan M, George, Alfred L The genetic basis of variability in drug responses.. Nat Rev Drug Discov, 1(1), 37-44, 2002.
- Rutledge, E, Bianchi, L, Christensen, M, Boehmer, C, Morrison, R, Broslat, A, Beld, AM, George, AL, Greenstein, D, Strange, K CLH-3, a ClC-2 anion channel ortholog activated during meiotic maturation in C. elegans oocytes. Curr Biol, 11(3), 161-70, 2001.
- Bianchi, L, Miller, DM, George, AL Expression of a CIC chloride channel in Caenorhabditis elegans gamma-aminobutyric acid-ergic neurons. Neurosci Lett, 299(3), 177-80, 2001.
- George, AL, Bianchi, L, Link, EM, Vanoye, CG From stones to bones: the biology of ClC chloride channels. Curr Biol, 11(15), R620-8, 2001.
- Viswanathan, PC, Bezzina, CR, George, AL, Roden, DM, Wilde, AA, Balser, JR Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes. Circulation, 104(10), 1200-5, 2001.
- Tapper, A R, George, A L Location and orientation of minK within the I(Ks) potassium channel complex.. J Biol Chem, 276(41), 38249-54, 2001.
- Abou-Khalil, B, Ge, Q, Desai, R, Ryther, R, Bazyk, A, Bailey, R, Haines, J L, Sutcliffe, J S, George, A L Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.. Neurology, 57(12), 2265-72, 2001.
- Fahlke, C, Desai, RR, Gillani, N, George, AL Residues lining the inner pore vestibule of human muscle chloride channels. J Biol Chem, 276(3), 1759-65, 2001.
- Zhou, J, Yi, J, Hu, N, George, AL, Murray, KT Activation of protein kinase A modulates trafficking of the human cardiac sodium channel in Xenopus oocytes. Circ Res, 87(1), 33-8, 2000.
- Wang, D W, Makita, N, Kitabatake, A, Balser, J R, George, A L Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.. Circ Res, 87(8), E37-43, 2000.
- George, AL, Neilson, EG Genetics of kidney disease. Am J Kidney Dis, 35(4 Suppl 1), S160-9, 2000.
- Tapper, A R, George, A L MinK subdomains that mediate modulation of and association with KvLQT1.. J Gen Physiol, 116(3), 379-90, 2000.
- Apparsundaram, S, Ferguson, SM, George, AL, Blakely, RD Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem Biophys Res Commun, 276(3), 862-7, 2000.
- Wei, J, Fish, FA, Myerburg, RJ, Roden, DM, George, AL Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. Hum Mutat, 15(4), 387-8, 2000.
- Rhodes, TH, Vite, CH, Giger, U, Patterson, DF, Fahlke, C, George, AL A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog. FEBS Lett, 456(1), 54-8, 1999.
- Mount, DB, Mercado, A, Song, L, Xu, J, George, AL, Delpire, E, Gamba, G Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem, 274(23), 16355-62, 1999.
- Wei, J, Wang, DW, Alings, M, Fish, F, Wathen, M, Roden, DM, George, AL Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation, 99(24), 3165-71, 1999.
- Wang, DW, VanDeCarr, D, Ruben, PC, George, AL, Bennett, PB Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. FEBS Lett, 448(2-3), 231-4, 1999.
- George, AL Chloride channels and endocytosis: ClC-5 makes a dent. Proc Natl Acad Sci U S A, 95(14), 7843-5, 1998.
- Wilson, MH, Puranam, RS, Ottman, R, Gilliam, C, Limbird, LE, George, AL, McNamara, JO Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy. Neurology, 51(6), 1730-1, 1998.
- Wallace RH, Wang DW, Singh R, Scheffer IE, Phillips HA, Saar K, Reis A, Sutherland GR, Berkovic SF, George AL, Jr. and Mulley JC "Febrile seizures and generalised epilepsy caused by a mutation in the sodium channel subunit SCN1B." Nature Genet, 19366-370, 1998.
- Fahlke, C, Rhodes, TH, Desai, RR, George, AL Pore stoichiometry of a voltage-gated chloride channel. Nature, 394(6694), 687-90, 1998.
- Fahlke, C, Beck, CL, George, AL A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A, 94(6), 2729-34, 1997.
- Murray, KT, Hu, NN, Daw, JR, Shin, HG, Watson, MT, Mashburn, AB, George, AL Functional effects of protein kinase C activation on the human cardiac Na+ channel. Circ Res, 80(3), 370-6, 1997.
- Endsley, JK, Phillips, JA, Hruska, KA, Denneberg, T, Carlson, J, George, AL Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int, 51(6), 1893-9, 1997.
- Sloan Brown, K, George, AL Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. Neurology, 48(2), 542-3, 1997.
- Fahlke, C, Dürr, C, George, AL Mechanism of ion permeation in skeletal muscle chloride channels. J Gen Physiol, 110(5), 551-64, 1997.
- Wang, DW, Yazawa, K, Makita, N, George, AL, Bennett, PB Pharmacological targeting of long QT mutant sodium channels. J Clin Invest, 99(7), 1714-20, 1997.
- Fahlke, C, Yu, H T, Beck, C L, Rhodes, T H, George, A L Pore-forming segments in voltage-gated chloride channels.. Nature, 390(6659), 529-32, 1997.
- Roden, DM, George, AL Structure and function of cardiac sodium and potassium channels. Am J Physiol, 273(2 Pt 2), H511-25, 1997.
- Fahlke, C, Knittle, T, Gurnett, CA, Campbell, KP, George, AL Subunit stoichiometry of human muscle chloride channels. J Gen Physiol, 109(1), 93-104, 1997.
- Wang, DW, Yazawa, K, George, AL, Bennett, PB Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A, 93(23), 13200-5, 1996.
- Wang, DW, George, AL, Bennett, PB Comparison of heterologously expressed human cardiac and skeletal muscle sodium channels. Biophys J, 70(1), 238-45, 1996.
- Wang, DW, Nie, L, George, AL, Bennett, PB Distinct local anesthetic affinities in Na+ channel subtypes. Biophys J, 70(4), 1700-8, 1996.
- George, AL Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms. Nephrol Dial Transplant, 11(9), 1730-7, 1996.
- Beck, C.L., Fahlke, Ch., and George, A.L., Jr "Molecular basis for decreased muscle chloride conductance in the myotonic goat." Proc Natl Acad Sci USA , 9311248-11252, 1996.
- Beck, C L, Fahlke, C, George, A L Molecular basis for decreased muscle chloride conductance in the myotonic goat.. Proc Natl Acad Sci U S A, 93(20), 11248-52, 1996.
- Yang, N., George, A.L., Jr., and Horn, R "Molecular basis of charge movement in voltage-gated sodium channels." Neuron , 16113-122, 1996.
- Makita, N, Bennett, PB, George, AL Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na+ channels. J Neurosci, 16(22), 7117-27, 1996.
- Makita, N, Bennett, PB, George, AL Multiple domains contribute to the distinct inactivation properties of human heart and skeletal muscle Na+ channels. Circ Res, 78(2), 244-52, 1996.
- Roden, DM, George, AL The cardiac ion channels: relevance to management of arrhythmias. Annu Rev Med, 47135-48, 1996.
- George, AL, Varkony, TA, Drabkin, HA, Han, J, Knops, JF, Finley, WH, Brown, GB, Ward, DC, Haas, M Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet, 68(1-2), 67-70, 1995.
- George, AL Molecular genetics of ion channel diseases. Kidney Int, 48(4), 1180-90, 1995.
- Bennett, P B, Yazawa, K, Makita, N, George, A L Molecular mechanism for an inherited cardiac arrhythmia.. Nature, 376(6542), 683-5, 1995.
- Roden, DM, George, AL, Bennett, PB Recent advances in understanding the molecular mechanisms of the long QT syndrome. J Cardiovasc Electrophysiol, 6(11), 1023-31, 1995.
- George, AL, Knops, JF, Han, J, Finley, WH, Knittle, TJ, Tamkun, MM, Brown, GB Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23. Genomics, 19(2), 395-7, 1994.
- Makita, N, Sloan-Brown, K, Weghuis, DO, Ropers, HH, George, AL Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Genomics, 23(3), 628-34, 1994.
- George, AL, Sloan-Brown, K, Fenichel, GM, Mitchell, GA, Spiegel, R, Pascuzzi, RM Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet, 3(11), 2071-2, 1994.
- Makita, N, Bennett, PB, George, AL Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J Biol Chem, 269(10), 7571-8, 1994.
- Bennett, PB, Makita, N, George, AL A molecular basis for gating mode transitions in human skeletal muscle Na+ channels. FEBS Lett, 326(1-3), 21-4, 1993.
- George, A L, Crackower, M A, Abdalla, J A, Hudson, A J, Ebers, G C Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).. Nat Genet, 3(4), 305-10, 1993.
- George, AL, Hays, JT, Graham, BS Blastomycosis presenting as monoarticular arthritis. The role of synovial fluid cytology. Arthritis Rheum, 28(5), 516-21, 1985.
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