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La ricerca find articoli where soggetti phrase all words 'HYPERKALEMIC PERIODIC PARALYSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 177 riferimenti
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    1. Bockenhauer, D
      Ion channels in disease

      CURRENT OPINION IN PEDIATRICS
    2. Falk, T; Kilani, RK; Yool, AJ; Sherman, SJ
      Viral vector-mediated expression of K+ channels regulates electrical excitability in skeletal muscle

      GENE THERAPY
    3. Schofield, PR
      Genetics, an alternative way to discover, characterize and understand ion channels

      CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY
    4. Wu, FF; Takahashi, MP; Pegoraro, E; Angelini, C; Colleselli, P; Cannon, SC; Hoffman, EP
      A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

      NEUROLOGY
    5. Gajewska, M; Mikulska, M; Wirth-Dzieciolowska, E
      Molecular diagnosis in testing genetic diseases in horses

      MEDYCYNA WETERYNARYJNA
    6. Bennett, ES
      Channel cytoplasmic loops alter voltage-dependent sodium channel activation in an isoform-specific manner

      JOURNAL OF PHYSIOLOGY-LONDON
    7. Ptacek, LJ; Fu, YH
      Channelopathies: Episodic disorders of the nervous system

      EPILEPSIA
    8. Soma, LR; Uboh, CE; Guan, FY; Birks, EK; Teleis, DC; Rudy, JA; Tsang, DS; Watson, AO
      Disposition, elimination, and bioavailability of phenytoin and its major metabolite in horses

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    9. Meola, G; Sansone, V
      Therapy in myotonic disorders and in muscle channelopathies

      NEUROLOGICAL SCIENCES
    10. Georgesco, M; Salerno, A
      Spontaneous activity in electromyography: mechanisms and practical interest.

      NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY
    11. Sansone, V; Griggs, RC; Moxley, RT
      Hypothyroidism unmasking proximal myotonic myopathy

      NEUROMUSCULAR DISORDERS
    12. Hirose, S; Okada, M; Kaneko, S; Mitsudome, A
      Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis

      EPILEPSY RESEARCH
    13. Catterall, WA
      From ionic currents to molecular mechanisms: The structure and function ofvoltage-gated sodium channels

      NEURON
    14. Moran, O
      Modulation of the rSkM1 sodium channel alpha-subunit by the beta(1)-subunit does not modify the inactivation kinetics

      NEUROSCIENCE RESEARCH COMMUNICATIONS
    15. Bhatia, KP; Griggs, RC; Ptacek, LJ
      Episodic movement disorders as channelopathies

      MOVEMENT DISORDERS
    16. van Oldruitenborgh-Oosterbaan, MMS; Goehring, LS
      Muscle and muscle disorders in the horse

      PFERDEHEILKUNDE
    17. Dumitru, D
      Physiologic basis of potentials recorded in electromyography

      MUSCLE & NERVE
    18. Boulos, PT; Heiman-Patterson, TD; Alexander, GM; Tahmoush, AJ
      Patch clamp studies of the thr1313met mutant sodium channel causing paramyotonia congenita

      MUSCLE & NERVE
    19. George, AL; Hebert, S
      Forefronts in nephrology: Ion channelopathies: Hereditary dysfunction of ion channels - Skytop, Pennsylvania, USA - October 28-31, 1998 - Introduction

      KIDNEY INTERNATIONAL
    20. Ptacek, LJ
      Ligand-gated ion channelopathies - Mutations in different genes causing one disease

      NEUROLOGY
    21. Bennett, LB; Roach, ES; Bowcock, AM
      A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

      NEUROLOGY
    22. Davies, NP; Eunson, LH; Gregory, RP; Mills, KR; Morrison, PJ; Hanna, MG
      Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    23. Felix, R
      Channelopathies: ion channel defects linked to heritable clinical disorders

      JOURNAL OF MEDICAL GENETICS
    24. Alberts, MK; Clarke, CR; MacAllister, CG; Homer, LM
      Pharmacokinetics of acetazolamide after intravenous and oral administration in horses

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    25. Dworakowska, B; Dolowy, K
      Ion channels-related diseases

      ACTA BIOCHIMICA POLONICA
    26. Desaphy, JF; Camerino, DC; Tortorella, V; De Luca, A
      Effect of mexiletine on sea anemone toxin-induced non-inactivating sodium channels of rat skeletal muscle: a model of sodium channel myotonia

      NEUROMUSCULAR DISORDERS
    27. Day, JW; Roelofs, R; Leroy, B; Pech, I; Benzow, K; Ranum, LPW
      Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

      NEUROMUSCULAR DISORDERS
    28. Plummer, NW; Meisler, MH
      Evolution and diversity of mammalian sodium channel genes

      GENOMICS
    29. Davies, NP; Hanna, MG
      Neurological channelopathies: diagnosis and therapy in the new millennium

      ANNALS OF MEDICINE
    30. Kollias-Baker, C
      Therapeutics of musculoskeletal disease in the horse

      VETERINARY CLINICS OF NORTH AMERICA-EQUINE PRACTICE
    31. Ruff, RL
      Effects of temperature on slow and fast inactivation of rat skeletal muscle Na+ channels

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    32. Grace, RF; Roach, VJ
      Caesarean section in a patient with paramyotonia congenita

      ANAESTHESIA AND INTENSIVE CARE
    33. Ptacek, LJ
      Ion channel diseases: Episodic disorders of the nervous system

      SEMINARS IN NEUROLOGY
    34. Fontaine, B
      Ion channel-related muscular disorders.

      REVUE DE MEDECINE INTERNE
    35. Ptacek, LJ
      Channelopathies - Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

      DIGESTIVE DISEASES AND SCIENCES
    36. Iranzo, A; Santamaria, J
      Hyperkalemic periodic paralysis associated with multiple sleep onset REM periods

      SLEEP
    37. Colazza, GB; Casali, C; Spadaro, M; Di Gennaro, G; Di Cesaria, V; Pierelli, F
      Electro-oculographic findings in an unusual case of paramyotonia congenita

      MUSCLE & NERVE
    38. Moran, O; Nizzari, M; Conti, F
      Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    39. Melamed-Frank, M; Marom, S
      A global defect in scaling relationship between electrical activity and availability of muscle sodium channels in hyperkalemic periodic paralysis

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    40. Sampaolo, S; Puca, AA; Nigro, V; Cappa, V; Sannino, V; Sanges, G; Bonavita, V; Di Iorio, G
      Lack of sodium channel mutation in an Italian family with paramyotonia congenita

      NEUROLOGY
    41. 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
    42. Bendahhou, S; Cummins, TR; Kwiecinski, H; Waxman, SG; Ptacek, LJ
      Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia, congenita in humans

      JOURNAL OF PHYSIOLOGY-LONDON
    43. Haeseler, G; Leuwer, M; Kavan, J; Wurz, A; Dengler, R; Piepenbrock, S
      Voltage-dependent block of normal and mutant muscle sodium channels by 4-Chloro-m-Cresol

      BRITISH JOURNAL OF PHARMACOLOGY
    44. Sasaki, R; Takano, H; Kamakura, K; Kaida, K; Hirata, A; Saito, M; Tanaka, H; Kuzuhara, S; Tsuji, S
      A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg

      ARCHIVES OF NEUROLOGY
    45. Fletcher, JE; Adnet, PJ; Reyford, H; Wieland, SJ; Stewart, SL; Rosenberg, H
      ATX II, a sodium channel toxin, sensitizes skeletal muscle to halothane, caffeine, and ryanodine

      ANESTHESIOLOGY
    46. MacLeay, JM; Valberg, SJ; Sorum, SA; Sorum, MD; Kassube, T; Santschi, EM; Mickelson, JR; Geyer, CJ
      Heritability of recurrent exertional rhabdomyolysis in Thoroughbred racehorses

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    47. PTACEK LJ
      THE PLACE OF MIGRAINE AS A CHANNELOPATHY

      Current opinion in neurology
    48. FFRENCHCONSTANT RH; PITTENDRIGH B; VAUGHAN A; ANTHONY N
      WHY ARE THERE SO FEW RESISTANCE-ASSOCIATED MUTATIONS IN INSECTICIDE TARGET GENES

      Philosophical transactions-Royal Society of London. Biological sciences
    49. KAPLAN JC; FONTAINE B
      NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    50. ROWLAND LP
      MOLECULAR-BASIS OF GENETIC-HETEROGENEITY - ROLE OF THE CLINICAL NEUROLOGIST

      Journal of child neurology
    51. TAINE L; COUPRY I; BOISSEAU P; SAURA R; LACOMBE D; ARVEILER B
      REFINED LOCALIZATION OF THE VOLTAGE-GATED CHLORIDE CHANNEL, CLCN3, TO4Q33

      Human genetics
    52. RASKIND WH; BOLIN T; WOLFF J; FINK J; MATSUSHITA M; LITT M; LIPE H; BIRD TD
      FURTHER LOCALIZATION OF A GENE FOR PAROXYSMAL DYSTONIC CHOREOATHETOSIS TO A 5-CM REGION ON CHROMOSOME 2Q34

      Human genetics
    53. GOTZE FR; THID S; KYLLERMAN M
      FIBROMYALGIA IN HYPERKALEMIC PERIODIC PARALYSIS

      Scandinavian journal of rheumatology
    54. 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
    55. CLAUSEN T
      CLINICAL AND THERAPEUTIC SIGNIFICANCE OF THE NA+,K+ PUMP

      Clinical science
    56. FLEISCHHAUER R; MITROVIC N; DEYMEER F; LEHMANNHORN F; LERCHE H
      EFFECTS OF TEMPERATURE AND MEXILETINE ON THE F1473S NA-CONGENITA( CHANNEL MUTATION CAUSING PARAMYOTONIA)

      Pflugers Archiv
    57. GREEN DS; GEORGE AL; CANNON SC
      HUMAN SODIUM-CHANNEL GATING DEFECTS CAUSED BY MISSENSE MUTATIONS IN S6 SEGMENTS ASSOCIATED WITH MYOTONIA - S804F AND V1293I

      Journal of physiology
    58. PLASSARTSCHIESS E; LHUILLIER L; GEORGE AL; FONTAINE B; TABTI N
      FUNCTIONAL EXPRESSION OF THE ILE693THR NA-CONGENITA IN A HUMAN CELL-LINE( CHANNEL MUTATION ASSOCIATED WITH PARAMYOTONIA)

      Journal of physiology
    59. HANNA MG; WOOD N; KULLMANN DM
      ION CHANNELS AND NEUROLOGICAL DISEASE - DNA-BASED DIAGNOSIS IS NOW POSSIBLE, AND ION CHANNELS MAY BE IMPORTANT IN COMMON PAROXYSMAL DISORDERS

      Journal of Neurology, Neurosurgery and Psychiatry
    60. ORRELL RW; JURKATROTT K; LEHMANNHORN F; LANE RJM
      FAMILIAL CRAMP DUE TO POTASSIUM-AGGRAVATED MYOTONIA

      Journal of Neurology, Neurosurgery and Psychiatry
    61. HANNA MG; STEWART J; SCHAPIRA AHV; WOOD NW; MORGANHUGHES JA; MURRAY NMF
      SALBUTAMOL TREATMENT IN A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS DUE TO A MUTATION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL GENE (SCN4A)

      Journal of Neurology, Neurosurgery and Psychiatry
    62. GRIMES JA; DJAMGOZ MBA
      ELECTROPHYSIOLOGICAL CHARACTERIZATION OF VOLTAGE-GATED NA-LYLU CELL-LINE OF RAT PROSTATE-CANCER( CURRENT EXPRESSED IN THE HIGHLY METASTATICMAT)

      Journal of cellular physiology
    63. YUDKOWSKY ML; BEECH J; FLETCHER JE
      PHENYTOIN ALTERS TRANSCRIPT LEVELS OF HORMONE-SENSITIVE LIPASE IN MUSCLE FROM HORSES WITH HYPERKALEMIC PERIODIC PARALYSIS

      Archives of biochemistry and biophysics (Print)
    64. TOMASELLI GF
      CYSTEINE MUTAGENESIS IN THE VOLTAGE-DEPENDENT SODIUM-CHANNEL - STRUCTURAL INSIGHTS AND IMPLICATIONS

      Trends in cardiovascular medicine
    65. BULMAN DE
      PHENOTYPE VARIATION AND NEWCOMERS IN ION-CHANNEL DISORDERS

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

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

      Neuromuscular disorders

    68. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    69. CANNON SC
      FROM MUTATION TO MYOTONIA IN SODIUM-CHANNEL DISORDERS

      Neuromuscular disorders
    70. PTACEK LJ
      CHANNELOPATHIES - ION-CHANNEL DISORDERS OF MUSCLE AS A PARADIGM FOR PAROXYSMAL DISORDERS OF THE NERVOUS-SYSTEM

      Neuromuscular disorders

    71. NEUROMUSCULAR DISORDERS - GENE LOCATION

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

      Neuromuscular disorders
    73. KELLY P; YANG WS; COSTIGAN D; FARRELL MA; MURPHY S; HARDIMAN O
      PARAMYOTONIA-CONGENITA AND HYPERKALEMIC PERIODIC PARALYSIS ASSOCIATEDWITH A MET-1592-VAL SUBSTITUTION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL ALPHA-SUBUNIT - A LARGE KINDRED WITH A NOVEL PHENOTYPE

      Neuromuscular disorders

    74. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    75. MOXLEY RT
      MYOTONIC DISORDERS IN CHILDHOOD - DIAGNOSIS AND TREATMENT

      Journal of child neurology
    76. BEECH J
      CHRONIC EXERTIONAL RHABDOMYOLYSIS

      The Veterinary clinics of North America. Equine practice
    77. ROSENFELD J; SLOANBROWN K; GEORGE AL
      A NOVEL MUSCLE SODIUM-CHANNEL MUTATION CAUSES PAINFUL CONGENITAL MYOTONIA

      Annals of neurology
    78. WOLF U
      IDENTICAL MUTATIONS AND PHENOTYPIC VARIATION

      Human genetics
    79. BENZ I; BECK W; KRAAS W; STOLL D; JUNG G; KOHLHARDT M
      2 TYPES OF MODIFIED CARDIAC NA-SUBUNIT CAPABLE OF REMOVING NA+ INACTIVATION( CHANNELS AFTER CYTOSOLIC INTERVENTIONS AT THE ALPHA)

      European biophysics journal
    80. HOFFMAN EP; GARDNER K
      ION CHANNELS - MOLECULAR DIVINING RODS HIT THEIR CLINICAL MARK

      The New England journal of medicine
    81. SANDROCK AW; CROS DP; LOUIS DN
      A 51-YEAR-OLD MAN WITH CHRONIC OBSTRUCTIVE PULMONARY-DISEASE AND GENERALIZED MUSCLE WEAKNESS - ACUTE CRITICAL-ILLNESS MYOPATHY, WITH LOSS OF MYOSIN-FILAMENTS, QUESTIONABLE INDUCED BY CORTICOSTEROID TREATMENT

      The New England journal of medicine
    82. HOFELE K; BENECKE R; AUBURGER G
      GENE LOCUS FPD1 OF THE DYSTONIC MOUNT-REBACK TYPE OF AUTOSOMAL-DOMINANT PAROXYSMAL CHOREOATHETOSIS

      Neurology
    83. PITTENDRIGH B; REENAN R; FFRENCHCONSTANT RH; GANETZKY B
      POINT MUTATIONS IN THE DROSOPHILA SODIUM-CHANNEL GENE PARA ASSOCIATEDWITH RESISTANCE TO DDT AND PYRETHROID INSECTICIDES

      MGG. Molecular & general genetics
    84. RICHMOND JE; FEATHERSTONE DE; RUBEN PC
      HUMAN NA-CONGENITA MUTANTS EXPRESSED IN XENOPUS-LAEVIS OOCYTES( CHANNEL FAST AND SLOW INACTIVATION IN PARAMYOTONIA)

      Journal of physiology
    85. YUE Q; JEN JC; NELSON SF; BALOH RW
      PROGRESSIVE ATAXIA DUE TO A MISSENSE MUTATION IN A CALCIUM-CHANNEL GENE

      American journal of human genetics
    86. 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

    87. NEUROMUSCULAR DISORDERS - GENE LOCATION

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

      Neuromuscular disorders

    89. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders

    90. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    91. MEOLA G; SANSONE V; RADICE S; SKRADSKI S; PTACEK L
      A FAMILY WITH AN UNUSUAL MYOTONIC AND MYOPATHIC PHENOTYPE AND NO CTG EXPANSION (PROXIMAL MYOTONIC MYOPATHY SYNDROME) - A CHALLENGE FOR FUTURE MOLECULAR STUDIES

      Neuromuscular disorders
    92. MOXLEY RT
      PROXIMAL MYOTONIC MYOPATHY - MINIREVIEW OF A RECENTLY DELINEATED CLINICAL DISORDER

      Neuromuscular disorders

    93. NEUROMUSCULAR DISORDERS - GENE LOCATION

      Neuromuscular disorders
    94. GEORGE AL
      HEREDITARY DYSFUNCTION OF VOLTAGE-GATED SODIUM-CHANNELS - FROM CLINICAL PHENOTYPE TO MOLECULAR MECHANISMS

      Nephrology, dialysis, transplantation
    95. WANG Q; LI ZZ; SHEN JX; KEATING MT
      GENOMIC ORGANIZATION OF THE HUMAN SCN5A GENE ENCODING THE CARDIAC SODIUM-CHANNEL

      Genomics
    96. AUBURGER G; RATZLAFF T; LUNKES A; NELLES HW; LEUBE B; BINKOFSKI F; KUGEL H; HEINDEL W; SEITZ R; BENECKE R; WITTE OW; VOIT T
      A GENE FOR AUTOSOMAL-DOMINANT PAROXYSMAL CHOREOATHETOSIS SPASTICITY (CSE) MAPS TO THE VICINITY OF A POTASSIUM CHANNEL GENE-CLUSTER ON CHROMOSOME 1P, PROBABLY WITHIN 2 CM BETWEEN D1S443 AND D1S197

      Genomics
    97. ROJAS CV
      ION CHANNELS AND HUMAN GENETIC-DISEASES

      News in physiological sciences
    98. YOUNGER DS; GORDON PH
      DIAGNOSIS IN NEUROMUSCULAR DISEASES

      Neurologic clinics
    99. MEOLA G; SANSONE V
      A NEWLY-DESCRIBED MYOTONIC DISORDER (PROXIMAL MYOTONIC MYOPATHY - PROMM) - PERSONAL-EXPERIENCE AND REVIEW OF THE LITERATURE

      Italian journal of neurological sciences
    100. LERCHE H; MITROVIC N; DUBOWITZ V; LEHMANNHORN F
      PARAMYOTONIA-CONGENITA - THE R1448P NA-MUSCLE( CHANNEL MUTATION IN ADULT HUMAN SKELETAL)

      Annals of neurology


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Documento generato il 05/08/20 alle ore 04:48:44