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    1. Gasser, T; Dichgans, M; Finsterer, J; Hausmanowa-Petrusewicz, I; Jurkat-Rott, K; Klopstock, T; LeGuern, E; Lehesjoki, AE; Lehmann-Horn, F; Lynch, T; Morris, H; Rossor, M; Steinlein, OK; Wood, N; Zaremba, J; Zeviani, M; Zoharn, A
      EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts

      EUROPEAN JOURNAL OF NEUROLOGY
    2. Davies, NP; Hanna, MG
      The skeletal muscle channelopathies: basic science, clinical genetics and treatment

      CURRENT OPINION IN NEUROLOGY
    3. Froemming, GR; Ohlendieck, K
      The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases

      FRONTIERS IN BIOSCIENCE
    4. Beja-Pereira, A; Bento, P; Ferrand, N; Brenig, B
      Genetic polymorphism of the 17th exon at porcine RYR1 locus: a new variantin a local Portuguese pig breed demonstrated by SSCP analysis

      JOURNAL OF ANIMAL BREEDING AND GENETICS-ZEITSCHRIFT FUR TIERZUCHTUNG UND ZUCHTUNGSBIOLOGIE
    5. Imoto, C; Nonaka, I
      The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders

      BRAIN & DEVELOPMENT
    6. Wappler, F
      Malignant hyperthermia

      EUROPEAN JOURNAL OF ANAESTHESIOLOGY
    7. Nelson, TE
      Heat production during anesthetic-induced malignant hyperthermia

      BIOSCIENCE REPORTS
    8. Rueffert, H; Olthoff, D; Deutrich, C; Froster, UG
      Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

      CLINICAL GENETICS
    9. Urwyler, A; Deufel, T; McCarthy, T; West, S
      Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

      BRITISH JOURNAL OF ANAESTHESIA
    10. O'Sullivan, GH; McIntosh, JM; Heffron, JJA
      Abnormal uptake and release of Ca2+ ions human malignant hyperthermia-susceptible sarcoplasmic reticulum

      BIOCHEMICAL PHARMACOLOGY
    11. Yoshida, M; Sugimoto, A; Ohshima, Y; Takeshima, H
      Important role of junctophilin in nematode motor function

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    12. Gronek, P; Nuc, K; Napierala, D; Plawski, A; Zajac, M; Banasiewicz, T; Slomski, R
      Sequence polymorphism of exon 17 of the ryanodine receptor gene (ryr1) in the Canidae

      JOURNAL OF ANIMAL AND FEED SCIENCES
    13. Vainzof, M; Muniz, VP; Tsanaclis, AMC; Silva, HCA; Rusticci, MS
      Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?

      GENETIC TESTING
    14. Weinreich, F; Jentsch, TJ
      Neurological diseases caused by ion-channel mutations

      CURRENT OPINION IN NEUROBIOLOGY
    15. Tojo, M; Ozawa, M; Nonaka, I
      Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family

      BRAIN & DEVELOPMENT
    16. Jurkat-Rott, K; McCarthy, T; Lehmann-Horn, F
      Genetics and pathogenesis of malignant hyperthermia

      MUSCLE & NERVE
    17. Missiaen, L; Robberecht, W; Van Den Bosch, L; Callewaert, G; Parys, JB; Wuytack, F; Raeymaekers, L; Nilius, B; Eggermont, J; De Smedt, H
      Abnormal intracellular Ca2+ homeostasis and disease

      CELL CALCIUM
    18. George, AL; Hebert, S
      Forefronts in nephrology: Ion channelopathies: Hereditary dysfunction of ion channels - Skytop, Pennsylvania, USA - October 28-31, 1998 - Introduction

      KIDNEY INTERNATIONAL
    19. Bu, H; Chen, Y; Liu, J; Li, S; Cheng, J; Li, Y
      RYR1 genotype of the Chinese Neijiang pig

      TRANSPLANTATION PROCEEDINGS
    20. MacLennan, DH
      Ca2+ signalling and muscle disease

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    21. Baur, CP; Klingler, W; Jurkat-Rott, K; Froeba, G; Schoch, E; Marx, T; Georgieff, M; Lehmann-Horn, F
      Xenon does not induce contracture in human malignant hyperthermia muscle

      BRITISH JOURNAL OF ANAESTHESIA
    22. Hopkins, PM
      Malignant hyperthermia: advances in clinical management and diagnosis

      BRITISH JOURNAL OF ANAESTHESIA
    23. Robinson, RL; Curran, JL; Ellis, FR; Halsall, PJ; Hall, WJ; Hopkins, PM; Iles, DE; West, SP; Shaw, MA
      Multiple interacting gene products may influence susceptibility to malignant hyperthermia

      ANNALS OF HUMAN GENETICS
    24. Gronek, P; Napierala, D; Plawski, A; Rosinski, A; Slomski, R; Banasiewicz, T
      A note on ryanodine receptor gene (ryr 1) occurrence in the anserine genome

      JOURNAL OF ANIMAL AND FEED SCIENCES
    25. Fortunato, G; Carsana, A; Tinto, N; Brancadoro, V; Canfora, G; Salvatore, F
      A case of discordance between genotype and phenotype in a malignant hyperthermia family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    26. Al-Bayati, HK; Duscher, S; Kollers, S; Rettenberger, G; Fries, R; Brenig, B
      Construction and characterization of a porcine P1-derived artificial chromosome (PAC) library covering 3.2 genome equivalents and cytogenetical assignment of six type I and type II loci

      MAMMALIAN GENOME
    27. Banwell, BL; Becker, LE; Jay, V; Taylor, GP; Vajsar, J
      Cardiac manifestations of congenital fiber-type disproportion myopathy

      JOURNAL OF CHILD NEUROLOGY
    28. Davies, NP; Hanna, MG
      Neurological channelopathies: diagnosis and therapy in the new millennium

      ANNALS OF MEDICINE
    29. Zhang, JZ; Wu, YL; Williams, BY; Rodney, G; Mandel, F; Strasburg, GM; Hamilton, SL
      Oxidation of the skeletal muscle Ca2+ release channel alters calmodulin binding

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    30. Laing, NG; Mastaglia, FL
      Inherited skeletal muscle disorders

      ANNALS OF HUMAN BIOLOGY
    31. Lehmann-Horn, F; Jurkat-Rott, K
      Voltage-gated ion channels and hereditary disease

      PHYSIOLOGICAL REVIEWS
    32. Barone, V; Massa, O; Intravaia, E; Bracco, A; Di Martino, A; Tegazzin, V; Cozzolino, S; Sorrentino, V
      Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

      JOURNAL OF MEDICAL GENETICS
    33. Tong, JF; McCarthy, TV; MacLennan, DH
      Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels

      JOURNAL OF BIOLOGICAL CHEMISTRY
    34. Curran, JL; Hall, WJ; Halsall, RJ; Hopkins, PM; Iles, DE; Markham, AF; McCall, SH; Robinson, RL; West, SP; Bridges, LR; Ellis, FR
      Segregation of malignant hyperthermia, central core disease and chromosome19 markers

      BRITISH JOURNAL OF ANAESTHESIA
    35. Larach, MG; MacLennan, DH
      How carefully can we phenotype patients suspected of malignant hyperthermia susceptibility?

      ANESTHESIOLOGY
    36. MURRAY BE; FROEMMING GR; MAGUIRE PB; OHLENDIECK K
      EXCITATION-CONTRACTION-RELAXATION CYCLE - ROLE OF CA2-REGULATORY MEMBRANE-PROTEINS IN NORMAL, STIMULATED AND PATHOLOGICAL SKELETAL-MUSCLE (REVIEW)()

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    37. LAMONT PJ; DUBOWITZ V; LANDON DN; DAVIS M; MORGANHUGHES JA
      50 YEAR FOLLOW-UP OF A PATIENT WITH CENTRAL CORE DISEASE SHOWS SLOW BUT DEFINITE PROGRESSION

      Neuromuscular disorders
    38. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    39. HUGHES I; LOWDEN S
      A POSSIBLE GENETIC-BASIS FOR FALSE-POSITIVE HALOTHANE REACTIONS IN AUSTRALIAN PIGS

      Journal of animal breeding and genetics
    40. MOSLEHI R; LANGLOIS S; YAM I; FRIEDMAN JM
      LINKAGE OF MALIGNANT HYPERTHERMIA AND HYPERKALEMIC PERIODIC PARALYSISTO THE ADULT SKELETAL-MUSCLE SODIUM-CHANNEL (SCN4A) GENE IN A LARGE PEDIGREE

      American journal of medical genetics
    41. FLETCHER CF; COPELAND NG; JENKINS NA
      GENETIC-ANALYSIS OF VOLTAGE-DEPENDENT CALCIUM CHANNELS

      Journal of bioenergetics and biomembranes
    42. DENBOROUGH M
      MALIGNANT HYPERTHERMIA

      Lancet
    43. ROBINSON R; CURRAN JL; HALL WJ; HALSALL PJ; HOPKINS PM; MARKHAM AF; STEWART AD; WEST SP; ELLIS FR
      GENETIC-HETEROGENEITY AND HOMOG ANALYSIS IN BRITISH MALIGNANT HYPERTHERMIA FAMILIES

      Journal of Medical Genetics
    44. SHIMUTA M; KOMAZAKI S; NISHI M; IINO M; NAKAGAWARA K; TAKESHIMA H
      STRUCTURE AND EXPRESSION OF MITSUGUMIN29 GENE

      FEBS letters
    45. LOKE JCP; MACLENNAN DH
      BAYESIAN MODELING OF MUSCLE BIOPSY CONTRACTURE TESTING FOR MALIGNANT HYPERTHERMIA SUSCEPTIBILITY

      Anesthesiology
    46. ROBINSON RL; MONNIER N; WOLZ W; JUNG M; REIS A; NUERNBERG G; CURRAN JL; MONSIEURS K; STIEGLITZ P; HEYTENS L; FRICKER R; VANBROECKHOVEN C; DEUFEL T; HOPKINS PM; LUNARDI J; MUELLER CR
      A GENOME WIDE SEARCH FOR SUSCEPTIBILITY LOCI IN 3 EUROPEAN MALIGNANT HYPERTHERMIA PEDIGREES

      Human molecular genetics
    47. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    48. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    49. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    50. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    51. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    52. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    53. YERLE M; LAHBIBMANSAIS Y; PINTON P; ROBIC A; GOUREAU A; MILAN D; GELLIN J
      THE CYTOGENETIC MAP OF THE DOMESTIC PIG (SUS SCROFA DOMESTICA)

      Mammalian genome
    54. GRIMM DR; GOLDMAN T; HOLLEYSHANKS R; BUOEN L; MENDIOLA J; SCHOOK LB; LOUIS C; ROHRER GA; LUNNEY JK
      MAPPING OF MICROSATELLITE MARKERS DEVELOPED FROM A FLOW-SORTED SWINE CHROMOSOME-6 LIBRARY

      Mammalian genome
    55. BERTORINI TE
      MYOGLOBINURIA, MALIGNANT HYPERTHERMIA, NEUROLEPTIC MALIGNANT SYNDROMEAND SEROTONIN SYNDROME

      Neurologic clinics
    56. OBRIEN PJ; LI G
      RAPID, SIMPLE AND SENSITIVE MICROASSAY FOR SKELETAL-MUSCLE HOMOGENATES IN THE FUNCTIONAL ASSESSMENT OF THE CA-RELEASE CHANNEL OF SARCOPLASMIC-RETICULUM - APPLICATION TO DIAGNOSIS OF SUSCEPTIBILITY TO MALIGNANTHYPERTHERMIA

      Molecular and cellular biochemistry
    57. SERRATRICE G; KOZAKRIBBENS G; COZZONE PJ
      NEUROLOGICAL ASPECTS OF MALIGNANT HYPERTH ERMIA - CLINIC, PATHOPHYSIOLOGY, GENETICS

      Revue neurologique
    58. SAKUBE Y; ANDO H; KAGAWA H
      AN ABNORMAL KETAMINE RESPONSE IN MUTANTS DEFECTIVE IN THE RYANODINE RECEPTOR GENE RYR-1 (UNC-68) OF CAENORHABDITIS-ELEGANS

      Journal of Molecular Biology
    59. OTTEN W; IAIZZO PA; EICHINGER HM
      EFFECTS OF A HIGH N-3 FATTY-ACID DIET ON MEMBRANE LIPID-COMPOSITION OF HEART AND SKELETAL-MUSCLE IN NORMAL SWINE AND IN SWINE WITH THE GENETIC MUTATION FOR MALIGNANT HYPERTHERMIA

      Journal of lipid research
    60. WU YL; AGHDASI B; DOU SJ; ZHANG JZ; LIU SQ; HAMILTON SL
      FUNCTIONAL INTERACTIONS BETWEEN CYTOPLASMIC DOMAINS OF THE SKELETAL-MUSCLE CA2+ RELEASE CHANNEL

      The Journal of biological chemistry
    61. PIETRZAK M; GREASER ML; SOSNICKI AA
      EFFECT OF RAPID RIGOR-MORTIS PROCESSES ON PROTEIN FUNCTIONALITY IN PECTORALIS MAJOR MUSCLE OF DOMESTIC TURKEYS

      Journal of animal science
    62. FAGERLUND TH; ORDING H; BENDIXEN D; ISLANDER G; TWETMAN ER; BERG K
      DISCORDANCE BETWEEN MALIGNANT HYPERTHERMIA SUSCEPTIBILITY AND RYR1 MUTATION C1840T IN 2 SCANDINAVIAN MH FAMILIES EXHIBITING THIS MUTATION

      Clinical genetics
    63. FAGERLUND TH; ISLANDER G; TWETMAN ER; BERG K
      MALIGNANT HYPERTHERMIA SUSCEPTIBILITY, AN AUTOSOMAL-DOMINANT DISORDER

      Clinical genetics
    64. WAPPLER F; SCHOLZ J; KOCHLING A; STEINFATH M; KRAUSE T; ESCH JSA
      INOSITOL 1,4,5-TRISPHOSPHATE IN BLOOD AND SKELETAL-MUSCLE IN HUMAN-MALIGNANT HYPERTHERMIA

      British Journal of Anaesthesia
    65. LYNCH PJ; KRIVOSICHORBER R; REYFORD H; MONNIER N; QUANE K; ADNET P; HAUDECOEUR G; KRIVOSIC I; MCCARTHY T; LUNARDI J
      IDENTIFICATION OF HETEROZYGOUS AND HOMOZYGOUS INDIVIDUALS WITH THE NOVEL RYR1 MUTATION CYS35ARG IN A LARGE KINDRED

      Anesthesiology
    66. ADEOKUN AM; WEST SP; ELLIS FR; HALSALL PJ; HOPKINS PM; FOROUGHMAND AM; ILES DE; ROBINSON RL; STEWART AD; CURRAN JL
      THE G1021A SUBSTITUTION IN THE RYR1 GENE DOES NOT COSEGREGATE WITH MALIGNANT HYPERTHERMIA SUSCEPTIBILITY IN A BRITISH PEDIGREE

      American journal of human genetics
    67. ORDING H; GLAHN K; GARDI T; FAGERLUND T; BENDIXEN D
      4-CHLORO-M-CRESOL TEST - A POSSIBLE SUPPLEMENTARY TEST FOR DIAGNOSIS OF MALIGNANT HYPERTHERMIA SUSCEPTIBILITY

      Acta anaesthesiologica Scandinavica

    68. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    69. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    70. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    71. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    72. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    73. HANDLER J; SCHMOLL F; STUR I; BREM G; SCHELLANDER K
      DISTRIBUTION OF APA-I AND CFO-I POLYMORPHISMS OF THE PORCINE GROWTH-HORMONE (PGH) GENE IN 2 RYR-1 GENOTYPED AUSTRIAN PIG BREEDS

      Journal of animal breeding and genetics
    74. WEN G; LEEB T; REINHART B; SCHMOELZL S; BRENIG B
      THE PORCINE SKELETAL-MUSCLE RYANODINE RECEPTOR GENE STRUCTURE CODING REGION 1 TO 10,614 HARBORING 71 EXONS

      Animal genetics
    75. RASMUSSEN UF; RASMUSSEN HN; ANDERSEN AJ; JORGENSEN PF; QUISTORFF B
      CHARACTERIZATION OF MITOCHONDRIA FROM PIG MUSCLE - HIGHER ACTIVITY OFEXO-NADH OXIDASE IN ANIMALS SUFFERING FROM MALIGNANT HYPERTHERMIA

      Biochemical journal
    76. MICKELSON JR; LOUIS CF
      MALIGNANT HYPERTHERMIA - EXCITATION-CONTRACTION COUPLING, CA2+ RELEASE CHANNEL, AND CELL CA2+ REGULATION DEFECTS

      Physiological reviews
    77. OHLENDIECK K
      MOLECULAR PATHOGENESIS OF DISEASES OF THE MUSCLES

      Naturwissenschaften
    78. MIYATAKE R; IWAHASHI K; MATSUSHITA M; NAKAMURA K; SUWAKI H
      NO ASSOCIATION BETWEEN THE NEUROLEPTIC MALIGNANT SYNDROME AND MUTATIONS IN THE RYR1 GENE ASSOCIATED MALIGNANT HYPERTHERMIA

      Journal of the neurological sciences
    79. MONSIEURS KG; VANBROECKHOVEN C; MARTIN JJ; DEHAENE I; HEYTENS LG
      MALIGNANT HYPERTHERMIA SUSCEPTIBILITY IN A PATIENT WITH CONCOMITANT MOTOR-NEURON DISEASE

      Journal of the neurological sciences
    80. MASTAGLIA FL; LAING NG
      INVESTIGATION OF MUSCLE DISEASE

      Journal of Neurology, Neurosurgery and Psychiatry
    81. HEALY JMS; QUANE KA; KEATING KE; LEHANE M; HEFFRON JJA; MCCARTHY TV
      DIAGNOSIS OF MALIGNANT HYPERTHERMIA - A COMPARISON OF THE IN-VITRO CONTRACTURE TEST WITH THE MOLECULAR-GENETIC DIAGNOSIS IN A LARGE PEDIGREE

      Journal of Medical Genetics
    82. SERFAS KD; BOSE D; PATEL L; WROGEMANN K; PHILLIPS MS; MACLENNAN DH; GREENBERG CR
      COMPARISON OF THE SEGREGATION OF THE RYR1 C1840T MUTATION WITH SEGREGATION OF THE CAFFEINE HALOTHANE CONTRACTURE TEST-RESULTS FOR MALIGNANTHYPERTHERMIA SUSCEPTIBILITY IN A LARGE MANITOBA MENNONITE FAMILY

      Anesthesiology
    83. WALLACE AJ; WOOLDRIDGE W; KINGSTON IIM; HARRISON MJ; ELLIS FR; FORD PM
      MALIGNANT HYPERTHERMIA - A LARGE KINDRED LINKED TO THE RYR1 GENE

      Anaesthesia

    84. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    85. STEINFATH M; SINGH S; SCHOLZ J; BECKER K; LENZEN C; WAPPLER F; KOCHLING A; ROEWER N; ESCH JSA
      C1840-T MUTATION IN THE HUMAN SKELETAL-MUSCLE RYANODINE RECEPTOR GENE- FREQUENCY IN NORTHERN GERMAN FAMILIES SUSCEPTIBLE TO MALIGNANT HYPERTHERMIA AND THE RELATIONSHIP TO IN-VITRO CONTRACTURE RESPONSE

      Journal of molecular medicine
    86. WEBER WW
      INFLUENCE OF HEREDITY ON HUMAN SENSITIVITY TO ENVIRONMENTAL CHEMICALS

      Environmental and molecular mutagenesis
    87. RETTENBERGER G; KLETT C; ZECHNER U; KUNZ J; VOGEL W; HAMEISTER H
      VISUALIZATION OF THE CONSERVATION OF SYNTENY BETWEEN HUMANS AND PIGS BY HETEROLOGOUS CHROMOSOMAL PAINTING

      Genomics
    88. QUANE KA; KEATING KE; HEALY JMS; HEFFRON JJA; LEHANE M; KRIVOSICHORBER R; HEYTENS L; MCCARTHY TV
      HAPLOTYPE ANALYSIS OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA AND CENTRAL CORE DISEASE

      Biochemical Society transactions
    89. HILBERT F; MAYR B; LACKNER F; BAUER F
      THE INFLUENCE OF PROTEINS ON SILVER STAINING OF NUCLEIC-ACIDS FOLLOWING POLYACRYLAMIDE-GEL ELECTROPHORESIS

      Electrophoresis
    90. GEORGE AL
      MOLECULAR-GENETICS OF ION-CHANNEL DISEASES

      Kidney international
    91. OBRIEN RO; TASKE NL; HANSBRO PM; MATTHAEI KI; HOGAN SP; DENBOROUGH MA; FOSTER PS
      EXCLUSION OF DEFECTS IN THE SKELETAL-MUSCLE SPECIFIC REGIONS OF THE DHPR ALPHA(1) SUBUNIT AS FREQUENT CAUSES OF MALIGNANT HYPERTHERMIA

      Journal of Medical Genetics
    92. FAGERLUND TH; ISLANDER G; TWETMAN ER; BERG K
      A SEARCH FOR 3 KNOWN RYR1 GENE-MUTATIONS IN 41 SWEDISH FAMILIES WITH PREDISPOSITION TO MALIGNANT HYPERTHERMIA

      Clinical genetics
    93. VITA GM; OLCKERS A; JEDLICKA AE; GEORGE AL; HEIMANPATTERSON T; ROSENBERG H; FLETCHER JE; LEVITT RC
      MASSETER MUSCLE RIGIDITY ASSOCIATED WITH GLYCINE(1306)-TO-ALANINE MUTATION IN THE ADULT MUSCLE SODIUM-CHANNEL ALPHA-SUBUNIT GENE

      Anesthesiology
    94. DEUFEL T; SUDBRAK R; FEIST Y; RUBSAM B; DUCHESNE I; SCHAFER KL; ROEWER N; GRIMM T; LEHMANNHORN F; HARTUNG EJ; MULLER CR
      DISCORDANCE, IN A MALIGNANT HYPERTHERMIA PEDIGREE, BETWEEN IN-VITRO CONTRACTURE-TEST PHENOTYPES AND HAPLOTYPES FOR THE MHS1 REGION ON CHROMOSOME 19Q12-13.2, COMPRISING THE C1840T TRANSITION IN THE RYR1 GENE

      American journal of human genetics
    95. SUDBRAK R; PROCACCIO V; KLAUSNITZER M; CURRAN JL; MONSIEURS K; VANBROECKHOVEN C; ELLIS R; HEYETENS L; HARTUNG EJ; KOZAKRIBBENS G; HEILINGER D; WEISSENBACH J; LEHMANHORN F; MUELLER CR; DEUFEL T; STEWART AD; LUNARDI J
      MAPPING OF A FURTHER MALIGNANT HYPERTHERMIA SUSCEPTIBILITY LOCUS TO CHROMOSOME 3Q13.1

      American journal of human genetics
    96. NADKARNI N; PRIOR TW; MENDELL JR
      THE IMPACT OF MOLECULAR-GENETICS ON THE CARE OF PATIENTS WITH MUSCLE DISEASE

      Current opinion in neurology
    97. ILES DE; LEHMANNHORN F; SCHERER SW; TSUI LC; WEGHUIS DO; SUIJKERBUIJK RF; HEYTENS L; MIKALA G; SCHWARTZ A; ELLIS FR; STEWART AD; DEUFEL T; WIERINGA B
      LOCALIZATION OF THE GENE ENCODING THE ALPHA(2) DELTA-SUBUNITS OF THE L-TYPE VOLTAGE-DEPENDENT CALCIUM-CHANNEL TO CHROMOSOME 7Q AND ANALYSISOF THE SEGREGATION OF FLANKING MARKERS IN MALIGNANT HYPERTHERMIA SUSCEPTIBLE FAMILIES/

      Human molecular genetics
    98. KNORR C; SCHWILLE M; MOSER G; MULLER E; BARTENSCHLAGER H; GELDERMANN H
      CALCIUM-RELEASE-CHANNEL GENOTYPES IN SEVERAL PIG-POPULATIONS - ASSOCIATIONS WITH HALOTHANE AND CK REACTIONS

      Journal of animal breeding and genetics
    99. MAKITA N; SLOANBROWN 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
    100. QUANE KA; KEATING KE; HEALY JMS; MANNING BM; KRIVOSICHORBER R; KRIVOSIC I; MONNIER N; LUNARDI J; MCCARTHY TV
      MUTATION SCREENING OF THE RYR1 GENE IN MALIGNANT HYPERTHERMIA - DETECTION OF A NOVEL TYR TO SER MUTATION IN A PEDIGREE WITH ASSOCIATED CENTRAL CORES

      Genomics


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Documento generato il 04/06/20 alle ore 20:47:03