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La ricerca find articoli where soggetti phrase all words 'central core disease' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 116 riferimenti
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    1. Marks, AR; Priori, S; Memmi, M; Kontula, K; Laitinen, PJ
      Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia

      JOURNAL OF CELLULAR PHYSIOLOGY
    2. Celesia, GG
      Disorders of membrane channels or channelopathies

      CLINICAL NEUROPHYSIOLOGY
    3. 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
    4. Davies, NP; Hanna, MG
      The skeletal muscle channelopathies: basic science, clinical genetics and treatment

      CURRENT OPINION IN NEUROLOGY
    5. Tubridy, N; Fontaine, B; Eymard, B
      Congenital myopathies and congenital muscular dystrophies

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

      FRONTIERS IN BIOSCIENCE
    7. Bornemann, A; Goebel, HH
      Congenital myopathies

      BRAIN PATHOLOGY
    8. Sambuughin, N; Nelson, TE; Jankovic, J; Xin, CL; Meissner, G; Mullakandov, M; Ji, J; Rosenberg, H; Sivakumar, K; Goldfarb, LG
      Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

      NEUROMUSCULAR DISORDERS
    9. Imoto, C; Nonaka, I
      The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders

      BRAIN & DEVELOPMENT
    10. Wappler, F
      Malignant hyperthermia

      EUROPEAN JOURNAL OF ANAESTHESIOLOGY
    11. Du, GG; Oyamada, H; Khanna, VK; MacLennan, DH
      Mutations to Gly(2370), Gly(2373) or Gly(2375) in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+ -release channel (ryanodine receptor isoform 1)

      BIOCHEMICAL JOURNAL
    12. Louis, CF; Balog, EM; Fruen, BR
      Malignant hyperthermia: An inherited disorder of skeletal muscle Ca2+ regulation

      BIOSCIENCE REPORTS
    13. Li, P; Chen, SRW
      Molecular basis of Ca2+ activation of the mouse cardiac Ca2+ release channel (ryanodine receptor)

      JOURNAL OF GENERAL PHYSIOLOGY
    14. Du, GG; Guo, XH; Khanna, VK; MacLennan, DH
      Functional characterization of mutants in the predicted pore region of therabbit cardiac muscle Ca2+ release channel (Ryanodine receptor isoform 2)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    15. Zhao, FY; Li, P; Chen, SRW; Fruen, BR
      Dantrolene inhibition of ryanodine receptor Ca2+ release channels - Molecular mechanism and isoform selectivity

      JOURNAL OF BIOLOGICAL CHEMISTRY
    16. 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
    17. Robinson, RL; Hopkins, PM
      A breakthrough in the genetic diagnosis of malignant hyperthermia

      BRITISH JOURNAL OF ANAESTHESIA
    18. Urwyler, A; Deufel, T; McCarthy, T; West, S
      Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

      BRITISH JOURNAL OF ANAESTHESIA
    19. Gallant, EM; Curtis, S; Pace, SM; Dulhunty, AF
      Arg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loop

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

      BIOCHEMICAL PHARMACOLOGY
    21. Sambuughin, N; Sei, Y; Gallagher, KL; Wyre, HW; Madsen, D; Nelson, TE; Fletcher, JE; Rosenberg, H; Muldoon, SM
      North American malignant hyperthermia population - Screening of the ryanodine receptor gene and identification of novel mutations

      ANESTHESIOLOGY
    22. Sambuughin, N; McWilliams, S; de Bantel, A; Sivakumar, K; Nelson, TE
      Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Melzer, W; Dietze, B
      Malignant hyperthermia and excitation-contraction coupling

      ACTA PHYSIOLOGICA SCANDINAVICA
    24. McCarthy, TV; Quane, KA; Lynch, PJ
      Ryanodine receptor mutations in malignant hyperthermia and central core disease

      HUMAN MUTATION
    25. Fortunato, G; Berruti, R; Brancadoro, V; Fattore, M; Salvatore, F; Carsana, A
      Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    26. Brown, RL; Pollock, AN; Couchman, KG; Hodges, M; Hutchinson, DO; Waaka, R; Lynch, P; McCarthy, TV; Stowell, KM
      A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

      HUMAN MOLECULAR GENETICS
    27. Weinreich, F; Jentsch, TJ
      Neurological diseases caused by ion-channel mutations

      CURRENT OPINION IN NEUROBIOLOGY
    28. Darras, BT; Jones, HR
      Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis

      PEDIATRIC NEUROLOGY
    29. Docquier, MA; Veyckemans, F; Prudhomme, S; Rossillon, R
      Anesthesia of child with anhydrotic ectodermic dysplasia with multiminicore myopathy

      CANADIAN JOURNAL OF ANAESTHESIA-JOURNAL CANADIEN D ANESTHESIE
    30. Tojo, M; Ozawa, M; Nonaka, I
      Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family

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

      MUSCLE & NERVE
    32. 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
    33. Shrager, JB; Desjardins, PR; Burkman, JM; Konig, SK; Stewart, DR; Su, L; Shah, MC; Bricklin, E; Tewari, M; Hoffman, R; Rickels, MR; Jullian, EH; Rubinstein, NA; Stedman, HH
      Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-IIb-perinatal-extraocular

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    34. George, AL; Hebert, S
      Forefronts in nephrology: Ion channelopathies: Hereditary dysfunction of ion channels - Skytop, Pennsylvania, USA - October 28-31, 1998 - Introduction

      KIDNEY INTERNATIONAL
    35. Lorenzon, NM; Beam, KG
      Calcium channelopathies

      KIDNEY INTERNATIONAL
    36. Yamamoto, T; El-Hayek, R; Ikemoto, N
      Postulated role of interdomain interaction within the ryanodine receptor in Ca2+ channel regulation

      JOURNAL OF BIOLOGICAL CHEMISTRY
    37. Du, GC; Khanna, VK; MacLennan, DH
      Mutation of divergent region 1 alters caffeine and Ca2+ sensitivity of theskeletal muscle Ca2+ release channel (ryanodine receptor)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    38. MacLennan, DH
      Ca2+ signalling and muscle disease

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    39. Hopkins, PM
      Malignant hyperthermia: advances in clinical management and diagnosis

      BRITISH JOURNAL OF ANAESTHESIA
    40. 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
    41. Ruffert, H; Olthoff, D; Deutrich, C; Thamm, B; Froster, U
      In vitro contracture test and gene typing in diagnosing malignant hyperthermia

      ANAESTHESIST
    42. Laing, NG
      Inherited disorders of sarcomeric proteins

      CURRENT OPINION IN NEUROLOGY
    43. 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
    44. Brandt, A; Schleithoff, L; Jurkat-Rott, K; Klingler, W; Baur, C; Lehmann-Horn, F
      Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

      HUMAN MOLECULAR GENETICS
    45. Banwell, BL; Becker, LE; Jay, V; Taylor, GP; Vajsar, J
      Cardiac manifestations of congenital fiber-type disproportion myopathy

      JOURNAL OF CHILD NEUROLOGY
    46. 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
    47. Eger, K; Bretschneider, F; Zierz, S; Lehmann-Horn, F
      Muscle diseases - New developments

      AKTUELLE NEUROLOGIE
    48. Laing, NG; Mastaglia, FL
      Inherited skeletal muscle disorders

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

      PHYSIOLOGICAL REVIEWS
    50. Cooper, EC; Jan, LY
      Ion channel genes and human neurological disease: Recent progress, prospects, and challenges

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    51. 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
    52. El-Hayek, R; Saiki, Y; Yamamoto, T; Ikemoto, N
      A postulated role of the near amino-terminal domain of the ryanodine receptor in the regulation of the sarcoplasmic reticulum Ca2+ channel

      JOURNAL OF BIOLOGICAL CHEMISTRY
    53. 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
    54. Larach, MG; MacLennan, DH
      How carefully can we phenotype patients suspected of malignant hyperthermia susceptibility?

      ANESTHESIOLOGY
    55. LEEB T; BRENIG B
      RYANODINE RECEPTORS AND THEIR ROLE IN GENETIC-DISEASES (REVIEW)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    56. MANNING BM; QUANE KA; LYNCH PJ; URWYLER A; TEGAZZIN V; KRIVOSICHORBER R; CENSIER K; COMI G; ADNET P; WOLZ W; LUNARDI J; MULLER CR; MCCARTHY TV
      NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA

      Human mutation
    57. MANNING BM; QUANE KA; LYNCH PJ; URWYLER A; TEGAZZIN V; KRIVOSICHORBER R; CENSIER K; COMI G; ADNET P; WOLZ W; LUNARDI J; MULLER CR; MCCARTHY TV
      NOVEL MUTATIONS AT A CPG DINUCLEOTIDE IN THE RYANODINE RECEPTOR IN MALIGNANT HYPERTHERMIA

      Human mutation
    58. WU YL; HAMILTON SL
      FUNCTIONAL INTERACTIONS OF CYTOPLASMIC DOMAINS OF THE SKELETAL-MUSCLECA2+ RELEASE CHANNEL

      Trends in cardiovascular medicine
    59. MANZUR AY; SEWRY CA; ZIPRIN J; DUBOWITZ V; MUNTONI F
      A SEVERE CLINICAL AND PATHOLOGICAL VARIANT OF CENTRAL CORE DISEASE WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE

      Neuromuscular disorders
    60. 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
    61. SEWRY CA
      THE ROLE OF IMMUNOCYTOCHEMISTRY IN CONGENITAL MYOPATHIES

      Neuromuscular disorders
    62. Leong, P; MacLennan, DH
      Complex interactions between skeletal muscle ryanodine receptor and dihydropyridine receptor proteins

      BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE
    63. ADNET P; HALLE I; FORGET AP
      MALIGNANT HYPERPYREXIA OF ANESTHESIA

      La Presse medicale
    64. FLETCHER CF; COPELAND NG; JENKINS NA
      GENETIC-ANALYSIS OF VOLTAGE-DEPENDENT CALCIUM CHANNELS

      Journal of bioenergetics and biomembranes
    65. DENBOROUGH M
      MALIGNANT HYPERTHERMIA

      Lancet
    66. STEWART SL; ROSENBERG H; FLETCHER JE
      FAILURE TO IDENTIFY THE RYANODINE RECEPTOR G1021A MUTATION IN A LARGENORTH-AMERICAN POPULATION WITH MALIGNANT HYPERTHERMIA

      Clinical genetics
    67. BONNE G; CARRIER L; RICHARD P; HAINQUE B; SCHWARTZ K
      FAMILIAL HYPERTROPHIC CARDIOMYOPATHY FROM MUTATIONS TO FUNCTIONAL DEFECTS

      Circulation research
    68. GONZALEZ LE; MELENDEZVASQUEZ CV; GREGSON NA; FILE SE
      A RAT MODEL OF SPONTANEOUS MYOPATHY AND MALIGNANT HYPERTHERMIA

      The American journal of pathology
    69. MANNING BM; QUANE KA; ORDING H; URWYLER A; TEGAZZIN V; LEHANE M; OHALLORAN J; HARTUNG E; GIBLIN LM; LYNCH PJ; VAUGHAN P; CENSIER K; BENDIXEN D; COMI G; HEYTENS L; MONSIEURS K; FAGERLUND T; WOLZ W; HEFFRON JJA; MULLER CR; MCCARTHY TV
      IDENTIFICATION OF NOVEL MUTATIONS IN THE RYANODINE-RECEPTOR GENE (RYR1) IN MALIGNANT HYPERTHERMIA - GENOTYPE-PHENOTYPE CORRELATION

      American journal of human genetics
    70. ZORZATO F; RONJAT M; TREVES S
      MALIGNANT HYPERTHERMIA DOMAIN IN THE REGULATION OF CA2+ RELEASE CHANNEL (RYANODINE RECEPTOR)

      Trends in cardiovascular medicine
    71. DECAUWER H; HEYTENS L; LUBKE U; CEUTERICK C; MARTIN JJ
      DISCORDANT LIGHT-MICROSCOPIC, ELECTRON-MICROSCOPIC, AND IN-VITRO CONTRACTURE STUDY FINDINGS IN A FAMILY WITH CENTRAL CORE DISEASE

      Clinical neuropathology
    72. GREENBERG DA
      CALCIUM CHANNELS IN NEUROLOGICAL DISEASE

      Annals of neurology
    73. DARRAS BT
      NEUROMUSCULAR DISORDERS IN THE NEWBORN

      Clinics in perinatology
    74. SERRATRICE G; KOZAKRIBBENS G; COZZONE PJ
      NEUROLOGICAL ASPECTS OF MALIGNANT HYPERTH ERMIA - CLINIC, PATHOPHYSIOLOGY, GENETICS

      Revue neurologique
    75. ZUCCHI R; RONCATESTONI S
      THE SARCOPLASMIC-RETICULUM CA2+ CHANNEL RYANODINE RECEPTOR - MODULATION BY ENDOGENOUS EFFECTORS, DRUGS AND DISEASE STATES/

      Pharmacological reviews
    76. MEZIN P; PAYEN JF; BOSSON JL; BRAMBILLA E; STIEGLITZ P
      HISTOLOGICAL SUPPORT FOR THE DIFFERENCE BETWEEN MALIGNANT HYPERTHERMIA SUSCEPTIBLE (MHS), EQUIVOCAL (MHE) AND NEGATIVE (MHN) MUSCLE BIOPSIES

      British Journal of Anaesthesia
    77. RUDNIKSCHONEBORN S; GLAUNER B; ROHRIG D; ZERRES K
      OBSTETRIC ASPECTS IN WOMEN WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, LIMB-GIRDLE MUSCULAR-DYSTROPHY, AND CONGENITAL MYOPATHIES

      Archives of neurology
    78. 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
    79. 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
    80. ROSENBERG H; SHUTACK JG
      VARIANTS OF MALIGNANT HYPERTHERMIA - SPECIAL PROBLEMS FOR THE PEDIATRIC ANESTHESIOLOGIST

      Paediatric anaesthesia

    81. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    82. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    83. PEDROZZI NE; RAMELLI GP; TOMASETTI R; NOBILEBUETTI L; BIANCHETTI MG
      RHABDOMYOLYSIS AND ANESTHESIA - A REPORT OF 2 CASES AND REVIEW OF THELITERATURE

      Pediatric neurology
    84. AKIYAMA C; NONAKA I
      A FOLLOW-UP-STUDY OF CONGENITAL NONPROGRESSIVE MYOPATHIES

      Brain & development
    85. MICKELSON JR; LOUIS CF
      MALIGNANT HYPERTHERMIA - EXCITATION-CONTRACTION COUPLING, CA2+ RELEASE CHANNEL, AND CELL CA2+ REGULATION DEFECTS

      Physiological reviews
    86. MASTAGLIA FL; LAING NG
      INVESTIGATION OF MUSCLE DISEASE

      Journal of Neurology, Neurosurgery and Psychiatry
    87. 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
    88. FAGERLUND TH; ISLANDER G; RANKLEVTWETMAN E; BERG K
      RECOMBINATION BETWEEN THE POSTULATED CCD MHE/MHS LOCUS AND RYR1 GENE MARKERS/

      Clinical genetics
    89. SMART RV; YU B; LE H; FRENCH JA; RICHMOND DR; JEREMY RW; SEMSARIAN C; CHEUNG L; ROSS DA; TRENT RJ
      DNA TESTING IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - CLINICAL AND LABORATORY IMPLICATIONS

      Clinical genetics
    90. 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
    91. WALLACE AJ; WOOLDRIDGE W; KINGSTON IIM; HARRISON MJ; ELLIS FR; FORD PM
      MALIGNANT HYPERTHERMIA - A LARGE KINDRED LINKED TO THE RYR1 GENE

      Anaesthesia
    92. ISLANDER G; HENRIKSSON KG; RANKLEVTWETMAN E
      MALIGNANT HYPERTHERMIA SUSCEPTIBILITY WITHOUT CENTRAL CORE DISEASE (CCD) IN A FAMILY WHERE CCD IS DIAGNOSED

      Neuromuscular disorders

    93. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    94. WILLIG TN; BACH JR; ROUFFET MJ; KRIVICKAS LS; MAQUET C
      CORRELATION OF FLEXION CONTRACTURES WITH UPPER EXTREMITY FUNCTION ANDPAIN FOR SPINAL MUSCULAR-ATROPHY AND CONGENITAL MYOPATHY PATIENTS

      American journal of physical medicine & rehabilitation
    95. MORONI I; GONANO EF; COMI GP; TEGAZZIN V; PRELLE A; BORDONI A; BRESOLIN N; SCARLATO G
      RYANODINE RECEPTOR GENE POINT MUTATION AND MALIGNANT HYPERTHERMIA SUSCEPTIBILITY

      Journal of neurology
    96. GIANNINI G; SORRENTINO V
      MOLECULAR-STRUCTURE AND TISSUE DISTRIBUTION OF RYANODINE RECEPTORS CALCIUM CHANNELS

      Medicinal research reviews
    97. GEORGE AL
      MOLECULAR-GENETICS OF ION-CHANNEL DISEASES

      Kidney international
    98. VANDERVEN PFM; JAP PHK; TERLAAK HJ; NONAKA I; BARTH PG; SENGERS RCA; STADHOUDERS AM; RAMAEKERS FCS
      IMMUNOPHENOTYPING OF CONGENITAL MYOPATHIES - DISORGANIZATION OF SARCOMERIC, CYTOSKELETAL AND EXTRACELLULAR-MATRIX PROTEINS

      Journal of the neurological sciences
    99. 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
    100. 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


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Documento generato il 29/05/20 alle ore 04:02:37