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La ricerca find articoli where authors phrase all words ' Nikoskelainen, E' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 22 riferimenti
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    1. Peltola, KE; Nanto-Salonen, K; Heinonen, OJ; Jaaskelainen, S; Heinanen, K; Simell, O; Nikoskelainen, E
      Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase

      OPHTHALMOLOGY
    2. Nikoskelainen, E
      Metabolic mitochondrial dysfunction results in hereditary optic nerve atrophy

      NEURO-OPHTHALMOLOGY
    3. Nikoskelainen, E
      Genetic disorders of the optic nerve

      NEURO-OPHTHALMOLOGY
    4. Nikoskelainen, E; Lindblom, B; Kerty, E; Lahdes, K; Frederiksen, J
      A case of isolated acute optic neuritis

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    5. Kalviainen, R; Nousiainen, I; Mantyjarvi, M; Nikoskelainen, E; Partanen, J; Partanen, K; Riekkinen, P
      Vigabatrin, a gabaergic antiepileptic drug, causes concentric visual fielddefects

      NEUROLOGY
    6. Heinanen, K; Nanto-Salonen, K; Komu, M; Erkintalo, M; Heinonen, OJ; Pulkki, K; Valtonen, M; Nikoskelainen, E; Alanen, A; Simell, O
      Muscle creatine phosphate in gyrate atrophy of the choroid and retina withhyperornithinaemia-clues to pathogenesis

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    7. Heinanen, K; Nanto-Salonen, K; Komu, M; Erkintalo, M; Alanen, A; Heinonen, OJ; Pulkki, K; Nikoskelainen, E; Sipila, I; Simell, O
      Creatine corrects muscle P-31 spectrum in gyrate atrophy with hyperornithinaemia

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    8. TYNI T; KIVELA T; LAPPI M; SUMMANEN P; NIKOSKELAINEN E; PIHKO H
      OPHTHALMOLOGIC FINDINGS IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY CAUSED BY THE G1528C MUTATION - A NEW-TYPE OF HEREDITARY METABOLIC CHORIORETINOPATHY

      Ophthalmology
    9. MACKEY D; OOSTRA RJ; ROSENBERG T; NIKOSKELAINEN E; POULTON J; BARRATT T; BOLHUIS P; NORBY S; SAVONTAUS ML; CHAN C; HOWELL N
      REPLY TO HOFMANN ET-AL

      American journal of human genetics
    10. VUORI ML; NIKOSKELAINEN E
      EVALUATION OF GLAUCOMA PATIENTS REFERRED TO A UNIVERSITY CLINIC DURING ONE-YEAR

      Acta ophthalmologica Scandinavica
    11. JUVONEN V; NIKOSKELAINEN E; LAMMINEN T; PENTTINEN M; AULA P; SAVONTAUS ML
      TISSUE DISTRIBUTION OF THE ND4 11778 MUTATION IN HETEROPLASMIC LINEAGES WITH LEBER HEREDITARY OPTIC NEUROPATHY/

      Human mutation
    12. LAMMINEN T; HUOPONEN K; SISTONEN P; JUVONEN V; LAHERMO P; AULA P; NIKOSKELAINEN E; SAVONTAUS ML
      MTDNA HAPLOTYPE ANALYSIS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY

      European journal of human genetics
    13. MAJANDER A; LAMMINEN T; JUVONEN V; AULA P; NIKOSKELAINEN E; SAVONTAUS ML; WIKSTROM M
      MUTATIONS IN SUBUNIT-6 OF THE F1F0-ATP SYNTHASE CAUSE 2 ENTIRELY DIFFERENT DISEASES

      FEBS letters
    14. LINDBLAD K; SAVONTAUS ML; STEVANIN G; HOLMBERG M; DIGRE K; ZANDER C; EHRSSON H; DAVID G; BENOMAR A; NIKOSKELAINEN E; TROTTIER Y; HOLMGREN G; PTACEK LJ; ANTTINEN A; BRICE A; SCHALLING M
      AN EXPANDED CAG REPEAT SEQUENCE IN SPINOCEREBELLAR ATAXIA TYPE-7

      PCR methods and applications
    15. NIKOSKELAINEN E
      OPHTHALMOLOGICAL FINDINGS IN LEBER HEREDITARY OPTIC NEUROPATHY, WITH SPECIAL REFERENCE TO THE MTDNA MUTATIONS (VOL 103, PG 504, 1996)

      Ophthalmology
    16. MAJANDER A; FINEL M; SAVONTAUS ML; NIKOSKELAINEN E; WIKSTROM M
      CATALYTIC ACTIVITY OF COMPLEX-I IN CELL-LINES THAT POSSESS REPLACEMENT MUTATIONS IN THE ND GENES IN LEBERS HEREDITARY OPTIC NEUROPATHY

      European journal of biochemistry
    17. MACKEY DA; OOSTRA RJ; ROSENBERG T; NIKOSKELAINEN E; BRONTESTEWART J; POULTON J; HARDING AE; GOVAN G; BOLHUIS PA; NORBY S; BLEEKERWAGEMAKERS EM; SAVONTAUS ML; CHAN C; HOWELL N
      PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY

      American journal of human genetics
    18. LAMMINEN T; MAJANDER A; JUVONEN V; WIKSTROM M; AULA P; NIKOSKELAINEN E; SAVONTAUS ML
      A MITOCHONDRIAL MUTATION AT NT-9101 IN THE ATP SYNTHASE-6 GENE ASSOCIATED WITH DEFICIENT OXIDATIVE-PHOSPHORYLATION IN A FAMILY WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY

      American journal of human genetics
    19. HUOPONEN K; JUVONEN V; IITIA A; DAHLEN P; SIITARI H; AULA P; NIKOSKELAINEN E; SAVONTAUS ML
      TIME-RESOLVED FLUOROMETRY IN THE DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURORETINOPATHY

      Human mutation
    20. JUVONEN V; HUOPONEN K; SYVANEN AC; NIKOSKELAINEN E; SAVONTAUS ML
      QUANTIFICATION OF POINT MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY BY SOLID-PHASE MINISEQUENCING

      Human genetics
    21. HUOPONEN K; LAMMINEN T; JUVONEN V; AULA P; NIKOSKELAINEN E; SAVONTAUS ML
      THE SPECTRUM OF MITOCHONDRIAL-DNA MUTATIONS IN FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY

      Human genetics
    22. JUVONEN V; VILKKI J; AULA P; NIKOSKELAINEN E; SAVONTAUS ML
      REEVALUATION OF THE LINKAGE OF AN OPTIC ATROPHY SUSCEPTIBILITY GENE TO X-CHROMOSOMAL MARKERS IN FINNISH FAMILIES WITH LEBER HEREDITARY OPTIC NEURORETINOPATHY (LHON)

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/05/20 alle ore 02:39:56