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La ricerca find articoli where soggetti phrase all words 'LEBERS HEREDITARY OPTIC NEUROPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 52 riferimenti
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    1. LINDBLOM B; BONDTAYLOR L
      SCANNING LASER OPHTHALMOSCOPY AS A TOOL FOR DETECTING ATROPHY OF THE CENTRAL RETINAL NERVE-FIBER LAYER IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Acta ophthalmologica Scandinavica
    2. LUNARDI J; DARROUZET E; DUPUIS A; ISSARTEL JP
      THE NUOM ARG(368)HIS MUTATION IN NADH - UBIQUINONE OXIDOREDUCTASE FROM RHODOBACTER-CAPSULATUS - A MODEL FOR THE HUMAN ND4-11778 MTDNA MUTATION ASSOCIATED WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Biochimica et biophysica acta. Molecular basis of disease
    3. MASHIMA Y; YAMADA K; WAKAKURA M; KIGASAWA K; KUDOH J; SHIMIZU N; OGUCHI Y
      SPECTRUM OF PATHOGENIC MITOCHONDRIAL-DNA MUTATIONS AND CLINICAL-FEATURES IN JAPANESE FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Current eye research
    4. WAKAKURA M; HAYASHI E; TOYOOKA Y; YAMABE H; WADA C; OHTANI H; ISHIKAWA S
      BILATERAL OPTIC NEUROPATHY WITH MITOCHONDRIAL-DNA 9804-MUTATION DETECTED BY NONISOTOPIC SINGLE-STRAND CONFORMATIONAL POLYMORPHISM

      Neuro-ophthalmology
    5. CARELLI V; BARBONI P; ZACCHINI A; MANCINI R; MONARI L; CEVOLI S; LIGUORI R; SENSI M; LUGARESI E; MONTAGNA P
      LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) WITH 14484 ND6 MUTATION IN A NORTH-AFRICAN PATIENT/

      Journal of the neurological sciences
    6. MASHIMA Y; OSHITARI K; IMAMURA Y; MOMOSHIMA S; SHIGA H; OGUCHI Y
      ORBITAL HIGH-RESOLUTION MAGNETIC-RESONANCE-IMAGING WITH FAST SPIN-ECHO IN THE ACUTE STAGE OF LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of Neurology, Neurosurgery and Psychiatry
    7. HANDOKO HY; WIRAPATI PJ; SUDOYO HA; SITEPU M; MARZUKI S
      MEIOTIC BREAKPOINT MAPPING OF A PROPOSED X-LINKED VISUAL-LOSS SUSCEPTIBILITY LOCUS IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of Medical Genetics
    8. ALBIN RL
      FUCHS CORNEAL-DYSTROPHY IN A PATIENT WITH MITOCHONDRIAL-DNA MUTATIONS

      Journal of Medical Genetics
    9. SALVAN AM; VIONDURY J; CONFORTGOUNY S; SANGLA I; POUGET J; COZZONE PJ
      BRAIN METABOLIC PROFILES OBTAINED BY PROTON MRS IN 2 FORMS OF MITOCHONDRIOPATHIES - LEBERS HEREDITARY OPTIC NEUROPATHY AND CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

      European neurology
    10. SCHAPIRA AHV
      HUMAN COMPLEX-I DEFECTS IN NEURODEGENERATIVE DISEASES

      Biochimica et biophysica acta. Bioenergetics
    11. YAMADA K; MASHIMA Y; KIGASAWA K; MIYASHITA K; WAKAKURA M; OGUCHI Y
      HIGH-INCIDENCE OF VISUAL RECOVERY AMONG 4 JAPANESE PATIENTS WITH LEBER HEREDITARY OPTIC NEUROPATHY WITH THE 14484-MUTATION

      Journal of neuro-ophthalmology
    12. MASHIMA Y; IMAMURA Y; OGUCHI Y
      DISSOCIATION OF DAMAGE TO SPATIAL AND LUMINANCE CHANNELS IN EARLY LEBERS HEREDITARY OPTIC NEUROPATHY MANIFESTED BY THE VISUAL-EVOKED POTENTIAL

      Eye
    13. ISASHIKI Y; TABATA Y; KAMIMURA K; OHBA N
      GENOTYPES OF ALDEHYDE DEHYDROGENASE AND ALCOHOL-DEHYDROGENASE POLYMORPHISMS IN PATIENTS WITH LEBER HEREDITARY OPTIC NEUROPATHY

      Japanese journal of human genetics
    14. HOFMANN S; BEZOLD R; JAKSCH M; KAUFHOLD P; OBERMAIERKUSSER B; GERBITZ KD
      ANALYSIS OF THE MITOCHONDRIAL-DNA FROM PATIENTS WITH WOLFRAM (DIDMOAD) SYNDROME

      Molecular and cellular biochemistry
    15. SOUIED E; PISELLA PJ; OSSAREH B; BREZIN A; JUNES P; WILDDECRETTE C; MUNNICH A; BONNEFONT JP; MONDON H
      DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY

      Journal francais d'ophtalmologie
    16. PUROHIT SS; TOMSAK RL
      NUTRITIONAL DEFICIENCY AMBLYOPIA OR LEBERS HEREDITARY OPTIC NEUROPATHY

      Neuro-ophthalmology
    17. PLANT GT; DOLIN P; MOHAMED AA; MLINGI N
      CONFIRMATION THAT NEITHER CYANIDE INTOXICATION NOR MUTATIONS COMMONLYASSOCIATED WITH LEBERS-HEREDITARY-OPTIC-NEUROPATHY ARE IMPLICATED IN TANZANIAN-EPIDEMIC-OPTIC-NEUROPATHY

      Journal of the neurological sciences
    18. FUNAKAWA I; TERAO A
      LEBERS PLUS

      Journal of the neurological sciences
    19. CORTELLI P; MONTAGNA P; PIERANGELI G; LODI R; BARBONI P; LIGUORI R; CARELLI V; IOTTI S; ZANIOL P; LUGARESI E; BARBIROLI B
      CLINICAL AND BRAIN BIOENERGETICS IMPROVEMENT WITH IDEBENONE IN A PATIENT WITH LEBERS HEREDITARY OPTIC NEUROPATHY - A CLINICAL AND P-31-MRS STUDY

      Journal of the neurological sciences
    20. YEN MY; WEI YH; LIU JH
      STARGARDTS TYPE MACULOPATHY IN A PATIENT WITH 11778-LEBERS OPTIC NEUROPATHY

      Journal of neuro-ophthalmology
    21. SAWANO T; TANAKA M; OHNO K; YONEDA M; OTA Y; TERASAKI H; AWAYA S; OZAWA T
      MITOCHONDRIAL-DNA MUTATIONS ASSOCIATED WITH THE 11778-MUTATION IN LEBERS-DISEASE

      Biochemistry and molecular biology international
    22. LEOKOTTLER B; CHRISTADLER M; BAUMANN B; ZRENNER E; WISSINGER B
      LEBERS HEREDITARY OPTIC NEUROPATHY - CLINICAL AND MOLECULAR-GENETIC RESULTS OBTAINED IN A FAMILY WITH A NEW POINT MUTATION AT NUCLEOTIDE POSITION-14498 IN THE ND-6 GENE

      German journal of ophthalmology
    23. MATH J; WILLIAMS PM; WILLIAMS SJ; BROWN MD; WALLACE DC; KARGER BL
      FAST CAPILLARY ELECTROPHORESIS-LASER INDUCED FLUORESCENCE ANALYSIS OFLIGASE CHAIN-REACTION PRODUCTS - HUMAN MITOCHONDRIAL-DNA POINT MUTATIONS CAUSING LEBERS HEREDITARY OPTIC NEUROPATHY

      Electrophoresis
    24. WAKAKURA M; MOGI A; ICHIBE Y; OKADA K; HASEBE H
      LEBERS HEREDITARY OPTIC NEUROPATHY TRIGGERED BY OPTIC NEURITIS

      Neuro-ophthalmology
    25. MOJON DS; KAUFMANN P; BAKER H; LINCOFF NS; ODEL JG; HIRANO M
      VITAMIN STATUS AND MITOCHONDRIAL-DNA MUTATIONS IN PATIENTS WITH INCOMPLETE RECOVERY FROM AN EPIDEMIC OPTIC NEUROPATHY IN CUBA

      Neuro-ophthalmology
    26. NAKAMURA M; SEKIYA Y; YAMAMOTO M
      EVALUATION OF BILATERAL UNDEFINED OPTIC NEUROPATHY BASED ON MITOCHONDRIAL GENETICS

      Neuro-ophthalmology
    27. BYNKE H; BYNKE G; ROSENBERG T
      IS LEBERS HEREDITARY OPTIC NEUROPATHY A RETINAL DISORDER

      Neuro-ophthalmology
    28. NAKAMURA M; SEKIYA Y; YAMAMOTO M
      PRESERVATION OF PHOTIC BLINK REFLEX IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Investigative ophthalmology & visual science
    29. MURAKAMI T; MITA S; TOKUNAGA M; MAEDA H; UEYAMA H; KUMAMOTO T; UCHINO M; ANDO M
      HEREDITARY CEREBELLAR-ATAXIA WITH LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL-DNA-11778 MUTATION

      Journal of the neurological sciences
    30. CHALMERS RM; GOVAN GG; SCHAPIRA AHV; HARDING AE
      HLA CLASS-I GENOTYPES IN LEBER HEREDITARY OPTIC NEUROPATHY

      Journal of the neurological sciences
    31. JANSEN PHP; VANDERKNAAP MS; DECOO IFM
      LEBERS HEREDITARY OPTIC NEUROPATHY WITH THE 11778-MTDNA MUTATION AND WHITE-MATTER DISEASE RESEMBLING MULTIPLE-SCLEROSIS - CLINICAL, MRI ANDMRS FINDINGS

      Journal of the neurological sciences
    32. 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
    33. MASHIMA Y; KIGASAWA K; HASEGAWA H; TANI M; OGUCHI Y
      HIGH-INCIDENCE OF PREEXCITATION SYNDROME IN JAPANESE FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Clinical genetics
    34. CHALMERS RM; HARDING AE
      A CASE-CONTROL STUDY OF LEBERS HEREDITARY OPTIC NEUROPATHY

      Brain
    35. MEIRE FM; VANCOSTER R; COCHAUX P; OBERMAIERKUSSER B; CANDAELE C; MARTIN JJ
      NEUROLOGICAL DISORDERS IN MEMBERS OF FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) CAUSED BY DIFFERENT MITOCHONDRIAL MUTATIONS

      Ophthalmic genetics
    36. MASHIMA Y; HIIDA Y; OGUCHI Y
      LACK OF DIFFERENCES AMONG MITOCHONDRIAL-DNA IN FAMILY MEMBERS WITH LEBERS HEREDITARY OPTIC NEUROPATHY AND DIFFERING VISUAL OUTCOMES

      Journal of neuro-ophthalmology
    37. BROWN MD; TORRONI A; RECKORD CL; WALLACE DC
      PHYLOGENETIC ANALYSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNAS INDICATES MULTIPLE INDEPENDENT OCCURRENCES OF THE COMMON MUTATIONS

      Human mutation
    38. MATTHEWS PM; BROWN RM; MORTEN K; MARCHINGTON D; POULTON J; BROWN G
      INTRACELLULAR HETEROPLASMY FOR DISEASE-ASSOCIATED POINT MUTATIONS IN MTDNA - IMPLICATIONS FOR DISEASE EXPRESSION AND EVIDENCE FOR MITOTIC SEGREGATION OF HETEROPLASMIC UNITS OF MTDNA

      Human genetics
    39. FUNAKAWA I; KATO H; TERAO A; ICHIHASHI K; KAWASHIMA S; HAYASHI T; MITANI K; MIYAZAKI S
      CEREBELLAR-ATAXIA IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of neurology
    40. SMITH PR; COOPER JM; GOVAN GG; RIORDANEVA P; HARDING AE; SCHAPIRA AHV
      ANTIBODIES TO HUMAN OPTIC-NERVE IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of the neurological sciences
    41. HOTTA Y; FUJIKI K; HAYAKAWA M; NAKAJIMA A; KANAI A; MASHIMA Y; HIIDA Y; SHINODA K; YAMADA K; OGUCHI Y; ISHIDA M; YANASHIMA K; WAKAKURA M; ISHIKAWA S; NAKAMURA M; SAKAI J; YAMAMOTO M; HAYASHI T; MITANI I; MIYAZAKI S; SHIMOOKU M; IMACHI J; KUNIYOSHI N; NAGATAKI S; ISASHIKI Y; OHBA N
      CLINICAL-FEATURES OF JAPANESE LEPERS HEREDITARY OPTIC NEUROPATHY WITHMUTATION-11778 OF MITOCHONDRIAL-DNA

      Japanese Journal of Ophthalmology
    42. RIORDANEVA P; SANDERS MD; GOVAN GG; SWEENEY MG; DACOSTA J; HARDING AE
      THE CLINICAL-FEATURES OF LEBERS HEREDITARY OPTIC NEUROPATHY DEFINED BY THE PRESENCE OF A PATHOGENIC MITOCHONDRIAL-DNA MUTATION

      Brain
    43. OLSEN NK; HANSEN AW; NORBY S; EDAL AL; JORGENSEN JR; ROSENBERG T
      LEBERS HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH A DISORDER INDISTINGUISHABLE FROM MULTIPLE-SCLEROSIS IN A MALE HARBORING THE MITOCHONDRIAL-DNA 11778-MUTATION

      Acta neurologica Scandinavica
    44. JOHNS DR; SADUN AA
      CUBAN EPIDEMIC OPTIC NEUROPATHY - MITOCHONDRIAL-DNA ANALYSIS

      Journal of neuro-ophthalmology
    45. JOHNS DR; NEUFELD MJ; HEDGES TR
      MITOCHONDRIAL-DNA MUTATIONS IN CUBAN OPTIC AND PERIPHERAL NEUROPATHY

      Journal of neuro-ophthalmology
    46. HANEFELD FA; ERNST BP; WILICHOWSKI E; CHRISTEN HJ
      LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL-DNA MUTATIONS IN CHILDHOOD MULTIPLE-SCLEROSIS

      Neuropediatrics
    47. WALLACE DC
      MITOCHONDRIAL-DNA MUTATIONS IN DISEASES OF ENERGY-METABOLISM

      Journal of bioenergetics and biomembranes
    48. GOVAN GG; SMITH PR; KELLARWOOD H; SCHAPIRA AHV; HARDING AE
      HLA CLASS-II GENOTYPES IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of the neurological sciences
    49. GOVAN GG; SMITH PR; KELLARWOOD H; SCHAPIRA AHV; HARDING AE
      HLA CLASS-II GENOTYPES IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of the neurological sciences
    50. SMITH PR; COOPER JM; GOVAN GG; HARDING AE; SCHAPIRA AHV
      PLATELET MITOCHONDRIAL-FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Journal of the neurological sciences
    51. NAKAMURA M; TANIGAWA M; YAMAMOTO M
      A CASE OF LEBERS HEREDITARY OPTIC NEUROPATHY WITH A MITOCHONDRIAL-DNAMUTATION AT NUCLEOTIDE POSITION-3460

      Japanese Journal of Ophthalmology
    52. OOSTRA RJ; BOLHUIS PA; BLEEKERWAGEMAKERS EM
      MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY

      Ophthalmic paediatrics and genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/21 alle ore 07:22:18