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La ricerca find articoli where soggetti phrase all words 'A3243G mutation' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 15 riferimenti
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    1. Spagnolo, M; Tomelleri, G; Vattemi, G; Filosto, M; Rizzuto, N; Tonin, P
      A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

      NEUROMUSCULAR DISORDERS
    2. Klemm, T; Neumann, S; Trulzsch, B; Pistrosch, F; Hanefeld, M; Paschke, R
      Search for mitochondrial DNA, mutation ate position 3243 in German patients with a positive family history of maternal diabetes mellitus

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    3. Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM
      Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation

      NEUROPEDIATRICS
    4. Hotta, O; Inoue, CN; Miyabayashi, S; Furuta, T; Takeuchi, A; Taguma, Y
      Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA(Leu(UUR)) gene mutation

      KIDNEY INTERNATIONAL
    5. Spellberg, B; Carroll, RM; Robinson, E; Brass, E
      mtDNA disease in the primary care setting

      ARCHIVES OF INTERNAL MEDICINE
    6. Deschauer, M; Neudecker, S; Muller, T; Gellerich, FN; Zierz, S
      Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

      MOLECULAR GENETICS AND METABOLISM
    7. Walker, UA
      Mitochondrial medicine for the internist

      MEDIZINISCHE KLINIK
    8. Klopstock, T; Gasser, T
      Genetic counseling and prenatal diagnosis in mitochondrial diseases

      NERVENARZT
    9. EDMAR A; LOMBES A; RENOUIL M; BANGUI A; LAMBLIN D; BOUMAHNI B; CHAURAND G; MARIETTE JB; FOURMAINTRAUX A; VALLEE L
      MELAS-SYNDROME - CLINICAL, BIOLOGICAL AND MOLECULAR-GENETIC FEATURES

      Archives de pediatrie
    10. Sue, CM; Quigley, A; Katsabanis, S; Kapsa, R; Crimmins, DS; Byrne, E; Morris, JGL
      Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    11. SUE CM; CRIMMINS DS; SOO YS; PAMPHLETT R; PRESGRAVE CM; KOTSIMBOS N; JEANFRANCOIS MJB; BYRNE E; MORRIS JGL
      NEURORADIOLOGICAL FEATURES OF 6 KINDREDS WITH MELAS TRNA(LEU) A3243G POINT MUTATION - IMPLICATIONS FOR PATHOGENESIS

      Journal of Neurology, Neurosurgery and Psychiatry
    12. CHINNERY PE; HOWELL N; LIGHTOWLERS RN; TURNBULL DM
      MELAS AND MERRF - THE RELATIONSHIP BETWEEN MATERNAL MUTATION LOAD ANDTHE FREQUENCY OF CLINICALLY AFFECTED OFFSPRING

      Brain (Print)
    13. HWANG JM; PARK HW; KIM SJ
      OPTIC NEUROPATHY ASSOCIATED WITH MITOCHONDRIAL TRNA(LEU(UUR)) A3243G MUTATION

      Ophthalmic genetics
    14. WARNER TT; SCHAPIRA AHV
      GENETIC-COUNSELING IN MITOCHONDRIAL DISEASES

      Current opinion in neurology
    15. DEVRIES D; DEWIJS I; RUITENBEEK W; BEGEER J; SMIT P; BENTLAGE H; VANOOST B
      EXTREME VARIABILITY OF CLINICAL SYMPTOMS AMONG SIBS IN A MELAS FAMILYCORRELATED WITH HETEROPLASMY FOR THE MITOCHONDRIAL A3243G MUTATION

      Journal of the neurological sciences


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/05/20 alle ore 10:03:27