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La ricerca find articoli where soggetti phrase all words 'MYOCLONIC EPILEPSY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 358 riferimenti
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    1. Capovilla, G; Rubboli, G; Beccaria, F; Lorenzetti, ME; Montagnini, A; Resi, C; Gardella, E; Gambardella, A; Romeo, A; Tassinari, CA
      A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study

      EPILEPTIC DISORDERS
    2. Panayiotopoulos, CP; Ferrie, CD; Koutroumanidis, M; Rowlinson, S; Sanders, S
      Idiopathic generalised epilepsy with phantom absences and absence status in a child

      EPILEPTIC DISORDERS
    3. Veggiotti, P; Cardinali, S; Montalenti, E; Gatti, A; Lanzi, G
      Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families

      EPILEPTIC DISORDERS
    4. Calleja, S; Salas-Puig, J; Ribacoba, R; Lahoz, CH
      Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    5. Dhanuka, AK; Jain, BK; Daljit, S; Maheshwari, D
      Juvenile myoclonic epilepsy: A clinical and sleep EEG study

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    6. Benbadis, SR; Thomas, P; Pontone, G
      A prospective comparison between two seizure classifications

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    7. Bauer, J; Elger, CE
      Psychogenic seizures mimicking juvenile myoclonic epilepsy: case reports

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    8. Martinovic, Z
      Adjunctive behavioural treatment in adolescents and young adults with juvenile myoclonic epilepsy

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    9. Nagashima, T; Kato, H; Maguchi, S; Chuma, T; Mano, Y; Goto, Y; Nonaka, I; Nagashima, K
      A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    10. Toyono, M; Nakano, K; Kiuchi, M; Imai, K; Suzuki, H; Shishikura, K; Osawa, M; Shiratori, K; Goto, Y; Nonaka, I; Sugie, H
      A case of MERRF associated with chronic pancreatitis

      NEUROMUSCULAR DISORDERS
    11. Dulac, O; Guerrini, R
      Seizure types and syndromes: lumping or splitting

      EPILEPSY RESEARCH
    12. Kjeldsen, MJ; Kyvik, KO; Christensen, K; Friis, ML
      Genetic and environmental factors in epilepsy: a population-based study of11900 Danish twin pairs

      EPILEPSY RESEARCH
    13. Steinlein, OK; Neubauer, BA; Sander, T; Song, LY; Stoodt, J; Mount, DB
      Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy

      EPILEPSY RESEARCH
    14. Unterberger, I; Trinka, E; Luef, G; Bauer, G
      Idiopathic generalized epilepsies with pure grand mal: clinical data and genetics

      EPILEPSY RESEARCH
    15. Benbadis, SR
      Epileptic seizures and syndromes

      NEUROLOGIC CLINICS
    16. Scheffer, IE; Wallace, R; Mulley, JC; Berkovic, SF
      Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)

      BRAIN & DEVELOPMENT
    17. Oguni, H; Hayashi, K; Awaya, Y; Fukuyama, Y; Osawa, M
      Severe myoclonic epilepsy in infants - a review based on the Tokyo Women'sMedical University series of 84 cases

      BRAIN & DEVELOPMENT
    18. Kanazawa, O
      Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy

      BRAIN & DEVELOPMENT
    19. Oguni, H; Fukuyama, Y; Tanaka, T; Hayashi, K; Funatsuka, M; Sakauchi, M; Shirakawa, S; Osawa, M
      Myoclonic-astatic epilepsy of early childhood - clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome

      BRAIN & DEVELOPMENT
    20. Wallace, SJ
      Newer antiepileptic drugs: advantages and disadvantages

      BRAIN & DEVELOPMENT
    21. Durner, M; Keddache, MA; Tomasini, L; Shinnar, S; Resor, SR; Cohen, J; Harden, C; Moshe, SL; Rosenbaum, D; Kang, H; Ballaban-Gil, K; Hertz, S; Labar, DR; Luciano, D; Wallace, S; Yohai, D; Klotz, I; Dicker, E; Greenberg, DA
      Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type

      ANNALS OF NEUROLOGY
    22. Taylor, RW; Taylor, GA; Durham, SE; Turnbull, DM
      The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

      NUCLEIC ACIDS RESEARCH
    23. Vassella, F
      Hyperekplexia

      AKTUELLE NEUROLOGIE
    24. Yasukawa, T; Suzuki, T; Ishii, N; Ohta, S; Watanabe, K
      Wobble modification defect in tRNA disturbs codon-anticodon interaction ina mitochondrial disease

      EMBO JOURNAL
    25. Wong, CGT; Scherer, SW; Snead, OC; Hampson, DR
      Localization of the human mGluR4 gene within an epilepsy susceptibility locus

      MOLECULAR BRAIN RESEARCH
    26. Radant, A; Tsuang, D; Peskind, ER; McFall, M; Raskind, W
      Biological markers and diagnostic accuracy in the genetics of posttraumatic stress disorder

      PSYCHIATRY RESEARCH
    27. Lerche, H; Jurkat-Rott, K; Lehmann-Horn, F
      Ion channels and epilepsy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Triepels, RH; Van den Heuvel, LP; Trijbels, JM; Smeitink, JA
      Respiratory chain complex I deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Wong, LJC; Dai, P; Tan, DJ; Lipson, M; Grix, A; Sifry-Platt, M; Gropman, A; Chen, TJ
      Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Arroyo, S; Kramer, G
      Treating epilepsy in the elderly - Safety considerations

      DRUG SAFETY
    31. Tanji, K; Bonilla, E
      Optical imaging techniques (Histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria

      METHODS IN CELL BIOLOGY, VOL 65
    32. Arzimanoglou, A; Kulak, I; Bidaut-Mazel, C; Baldy-Moulinier, M
      Optimal use of lamotrigine in clinical practice: results of an open multicenter trial in refractory epilepsy.

      REVUE NEUROLOGIQUE
    33. Pavone, P; Bianchini, R; Trifiletti, RR; Incorpora, G; Pavone, A; Parano, E
      Neuropsychological assessment in children with absence epilepsy

      NEUROLOGY
    34. Fittipaldi, F; Curra, A; Fusco, L; Ruggieri, S; Manfredi, M
      EEG discharges on awakening: A marker of idiopathic generalized epilepsy

      NEUROLOGY
    35. Montalenti, E; Imperiale, D; Rovera, A; Bergamasco, B; Benna, P
      Clinical features, EEG findings and diagnostic pitfalls in juvenile myoclonic epilepsy: a series of 63 patients

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    36. Gelisse, P; Genton, P; Thomas, P; Rey, M; Samuelian, JC; Dravet, C
      Clinical factors of drug resistance in juvenile myoclonic epilepsy

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    37. Kudo, T; Ishida, S; Kubota, H; Yagi, K
      Manic episode in epilepsy and bipolar I disorder: A comparative analysis of 13 patients

      EPILEPSIA
    38. Benlounis, A; Nabbout, R; Feingold, J; Parmeggiani, A; Guerrini, R; Kaminska, A; Dulac, O
      Genetic predisposition to severe myoclonic epilepsy in infancy

      EPILEPSIA
    39. Wong, ICK; Mawer, GE; Sander, JWAS; Lhatoo, SD
      A pharmacoepidemiologic study of factors influencing the outcome of treatment with lamotrigine in chronic epilepsy

      EPILEPSIA
    40. Berkovic, SF; Scheffer, IE
      Genetics of the epilepsies

      EPILEPSIA
    41. Perucca, E
      The management of refractory idiopathic epilepsies

      EPILEPSIA
    42. Genton, P; Gelisse, P
      Premature death in juvenile myoclonic epilepsy

      ACTA NEUROLOGICA SCANDINAVICA
    43. Panagariya, A; Sureka, RK; Sardana, V
      Juvenile Myoclonic Epilepsy - an experience from north western India

      ACTA NEUROLOGICA SCANDINAVICA
    44. Janz, D
      Epilepsy with grand mal on awakening and sleep-waking cycle

      CLINICAL NEUROPHYSIOLOGY
    45. Morton, LD; Pellock, JM
      Overview of childhood epilepsy and epileptic syndromes and advances in therapy

      CURRENT PHARMACEUTICAL DESIGN
    46. Gelisse, P; Genton, P; Raybaud, C; Thomas, P; Bartolomei, F; Dravet, C
      Is it juvenile myoclonic epilepsy?

      EPILEPTIC DISORDERS
    47. Dulac, O
      Benign epilepsies of childhood - distinct syndromes and overlap

      EPILEPTIC DISORDERS
    48. Rubio-Gozalbo, ME; Dijkman, KP; van den Heuvel, LP; Sengers, RCA; Wendel, U; Smeitink, JAM
      Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

      HUMAN MUTATION
    49. Nieto-Barrera, M; Candau, R; Nieto-Jimenez, M; Correa, A; Del Portal, LR
      Topiramate in the treatment of severe myoclonic epilepsy in infancy

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    50. Fernando-Dongas, MC; Radtke, RA; Vanlandingham, KE; Husain, AM
      Characteristics of valproic acid resistant juvenile myoclonic epilepsy

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    51. Gunatilake, SB; Seneviratne, SL
      Juvenile myoclonic epilepsy: a study in Sri Lanka

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    52. Appleton, R; Beirne, M; Acomb, B
      Photosensitivity in juvenile myoclonic epilepsy

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    53. Scheffer, IE; Berkovic, SF
      Genetics of the epilepsies

      CURRENT OPINION IN PEDIATRICS
    54. Borner, GV; Zeviani, M; Tiranti, V; Carrara, F; Hoffmann, S; Gerbitz, KD; Lochmuller, H; Pongratz, D; Klopstock, T; Melberg, A; Holme, E; Paabo, S
      Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

      HUMAN MOLECULAR GENETICS
    55. Sander, T; Schulz, H; Saar, K; Gennaro, E; Riggio, MC; Bianchi, A; Zara, F; Luna, D; Bulteau, C; Kaminska, A; Ville, D; Cieuta, C; Picard, F; Prud'homme, JF; Bate, L; Sundquist, A; Gardiner, RM; Janssen, GAMAJ; de Haan, GJ; Kasteleijn-Nolst-Trenite, DGA; Bader, A; Lindhout, D; Riess, O; Wienker, TF; Janz, D; Reis, A
      Genome search for susceptibility loci of common idiopathic generalised epilepsies

      HUMAN MOLECULAR GENETICS
    56. Haug, K; Sander, T; Hallmann, K; Rau, B; Dullinger, JS; Elger, CE; Propping, P; Heils, A
      The voltage-gated sodium channel beta 2-subunit gene and idiopathic generalized epilepsy

      NEUROREPORT
    57. Haug, K; Hallmann, K; Horvath, S; Sander, T; Kubisch, C; Rau, B; Dullinger, J; Beyenburg, S; Elger, CE; Propping, P; Heils, A
      No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy

      EPILEPSY RESEARCH
    58. Haug, K; Sander, T; Hallmann, K; Lentze, MJ; Propping, P; Elger, CE; Heils, A
      Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy

      EPILEPSY RESEARCH
    59. Goodwin, H; Curran, N; Chioza, B; Blower, J; Nashef, L; Asherson, P; Makoff, AJ
      No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study

      EPILEPSY RESEARCH
    60. McBrien, DM; Bonthius, DJ
      Seizures in infants and young children

      INFANTS AND YOUNG CHILDREN
    61. Haug, K; Kremerskothen, J; Hallmann, K; Sander, T; Dullinger, J; Rau, B; Beyenburg, S; Lentze, MJ; Barnekow, A; Elger, CE; Propping, P; Heils, A
      Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy

      MOLECULAR AND CELLULAR PROBES
    62. Genton, P
      When antiepileptic drugs aggravate epilepsy

      BRAIN & DEVELOPMENT
    63. Triepels, R; Smeitink, J; Loeffen, J; Smeets, R; Trijbels, F; van den Heuvel, L
      Characterization of the human complex INDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

      HUMAN GENETICS
    64. Sadzot, B; Reznik, M; Arrese-Estrada, JE; Franck, G
      Familial Kufs' disease presenting as a progressive myoclonic epilepsy

      JOURNAL OF NEUROLOGY
    65. Gardiner, RM
      Impact of our understanding of the genetic aetiology of epilepsy

      JOURNAL OF NEUROLOGY
    66. Arroyo, S; Santamaria, J; Grinberg, D; Oliva, R; Obach, V
      No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy

      NEUROSCIENCE LETTERS
    67. Rossignol, R; Letellier, T; Malgat, M; Rocher, C; Mazat, JP
      Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases

      BIOCHEMICAL JOURNAL
    68. Durner, M; Shinnar, S; Resor, SR; Moshe, SL; Rosenbaum, D; Cohen, J; Harden, C; Kang, H; Hertz, S; Wallace, S; Luciano, D; Ballaban-Gil, K; Greenberg, DA
      No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

      AMERICAN JOURNAL OF MEDICAL GENETICS
    69. Famula, TR; Oberbauer, AM
      Segregation analysis of epilepsy in the Belgian tervueren dog

      VETERINARY RECORD
    70. Moulard, B; Crespel, A; Malafosse, A; Baldy-Moulinier, M
      Recent insights about genetics of human idiopathic epilepsies and febrilesseizures

      REVUE NEUROLOGIQUE
    71. Solis, MV
      Lafora disease and founder effect in a small neotropical locality

      REVISTA DE BIOLOGIA TROPICAL
    72. Berkovic, SF
      Familial epilepsies: Quality of life issues in genetic research

      NEUROLOGY
    73. Bergey, GK
      Future antiepileptic drug development

      NEUROLOGY
    74. Letellier, T; Durrieu, G; Malgat, M; Rossignol, R; Antoch, J; Deshouillers, JM; Coquet, M; Lacombe, D; Netter, JC; Pedespan, JM; Redonnet-Vernhet, I; Mazat, JP
      Statistical analysis of mitochondrial pathologies in childhood: Identification of deficiencies using principal component analysis

      LABORATORY INVESTIGATION
    75. Ure, JA; Perassolo, M
      Update on the pathophysiology of the epilepsies

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    76. Schroder, R; Vielhaber, S; Wiedemann, FR; Kornblum, C; Papassotiropoulos, A; Broich, P; Zierz, S; Elger, CE; Reichmann, H; Seibel, P; Klockgether, T; Kunz, WS
      New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    77. Yasukawa, T; Suzuki, T; Suzuki, T; Ueda, T; Ohta, S; Watanabe, K
      Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

      JOURNAL OF BIOLOGICAL CHEMISTRY
    78. Osorio, I; Reed, RC; Peltzer, JN
      Refractory idiopathic absence status epilepticus: A probable paradoxical effect of phenytoin and carbamazepine

      EPILEPSIA
    79. Savic, I; Lekvall, A; Greitz, D; Helms, G
      MR spectroscopy shows reduced frontal lobe concentrations of N-acetyl aspartate in patients with juvenile myoclonic epilepsy

      EPILEPSIA
    80. Kiley, MA; Smith, SJM; Sander, JW
      Idiopathic generalized epilepsy presenting with hemiconvulsive seizures

      EPILEPSIA
    81. Hennessy, MJ; Binnie, CD
      Photogenic partial seizures

      EPILEPSIA
    82. Greenwood, RS
      Adverse effects of antiepileptic drugs

      EPILEPSIA
    83. Matsuoka, H; Takahashi, T; Sasaki, M; Matsumoto, K; Yoshida, S; Numachi, Y; Saito, H; Ueno, T; Sato, M
      Neuropsychological EEG activation in patients with epilepsy

      BRAIN
    84. Koga, Y; Akita, Y; Takane, N; Sato, Y; Kato, H
      Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

      ARCHIVES OF DISEASE IN CHILDHOOD
    85. Sarisjulis, N; Gamboni, B; Plouin, P; Kaminska, A; Dulac, O
      Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy

      ARCHIVES OF DISEASE IN CHILDHOOD
    86. Gelisse, P; Genton, P; Raybaud, C; Thomas, P; Dravet, C
      Structural brain lesions do not influence the prognosis of juvenile myoclonic epilepsy

      ACTA NEUROLOGICA SCANDINAVICA
    87. Smith, D; Defalla, BA; Chadwick, DW
      The misdiagnosis of epilepsy and the management of refractory epilepsy in a specialist clinic

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    88. Corkill, RG; Hardie, RJ
      An unusual case of Lafora body disease

      EUROPEAN JOURNAL OF NEUROLOGY
    89. Gericke, CA; Picard, F; de Saint-Martin, A; Strumia, S; Marescaux, C; Hirsch, E
      Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video-EEG-controlled, open study

      EPILEPTIC DISORDERS
    90. Atakli, D; Soysal, A; Atay, T; Altintas, H; Arpaci, B; Baybas, S
      Somatosensory evoked potentials and EEG findings in siblings of juvenile myoclonic epilepsy patients

      EPILEPTIC DISORDERS
    91. Bate, L; Gardiner, M
      Genetics of inherited epilepsies

      EPILEPTIC DISORDERS
    92. Benbadis, SR
      Observations on the misdiagnosis of generalized epilepsy as partial epilepsy: causes and consequences

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    93. Taivassalo, T; Fu, K; Johns, T; Arnold, D; Karpati, G; Shoubridge, EA
      Gene shifting: a novel therapy for mitochondrial myopathy

      HUMAN MOLECULAR GENETICS
    94. Pang, CY; Huang, CC; Yen, MY; Wang, EK; Kao, KP; Chen, SS; Wei, YH
      Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    95. Kasai, K; Onuma, T; Kato, M; Kato, T; Takeya, J; Sekimoto, M; Watanabe, K; Minami, N; Goto, Y; Minabe, Y
      Differences in evoked potential characteristics between DRPLA patients andpatients with progressive myoclonic epilepsy: preliminary findings indicating usefulness for differential diagnosis

      EPILEPSY RESEARCH
    96. Kaminska, A; Ickowicz, A; Plouin, P; Bru, MF; Dellatolas, G; Dulac, O
      Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis

      EPILEPSY RESEARCH
    97. Sander, T; Scholz, L; Janz, D; Epplen, JT; Riess, O
      Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility toidiopathic generalized epilepsy

      EPILEPSY RESEARCH
    98. Mecarelli, O; de Feo, MR; Accornero, N; Paffetti, A
      Systemic lupus erythematosus and myoclonic epileptic manifestations

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    99. Peiffer, A; Thompson, J; Charlier, C; Otterud, B; Varvil, T; Pappas, C; Barnitz, C; Gruenthal, K; Kuhn, R; Leppert, M
      A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

      ANNALS OF NEUROLOGY
    100. Vainionpaa, LK; Rattya, J; Knip, M; Tapanainen, JS; Pakarinen, AJ; Lanning, P; Tekay, A; Myllyla, VV; Isojarvi, JIT
      Valproate-induced hyperandrogenism during pubertal maturation in girls with epilepsy

      ANNALS OF NEUROLOGY


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Documento generato il 30/05/20 alle ore 16:30:14