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    1. Hutchin, TP; Navarro-Coy, NC; Van Camp, G; Tiranti, V; Zeviani, M; Schuelkes, M; Jaksch, M; Newton, V; Mueller, RF
      Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. 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
    3. Yanagihara, C; Oyama, A; Tanaka, M; Nakaji, K; Nishimura, Y
      An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure

      INTERNAL MEDICINE
    4. Karadimas, C; Tanji, K; Geremek, M; Chronopoulou, P; Vu, T; Krishna, S; Sue, CM; Shanske, S; Bonilla, E; DiMauro, S; Lipson, M; Bachman, R
      A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

      JOURNAL OF CHILD NEUROLOGY
    5. Chinnery, PF; Andrews, RM; Turnbull, DM; Howell, N
      Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. 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
    7. Tzen, CY; Tsai, JD; Wu, TY; Chen, BF; Chen, ML; Lin, SP; Chen, SC
      Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

      KIDNEY INTERNATIONAL
    8. Kopsidas, G; Kovalenko, SA; Islam, MM; Gingold, EB; Linnane, AW
      Preferential amplification is minimised in long-PCR systems

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    9. Fernandez-Moreno, MA; Bornstein, B; Campos, Y; Arenas, J; Garesse, R
      The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes

      MOLECULAR GENETICS AND METABOLISM
    10. Uziel, G; Carrara, F; Granata, T; Lamantea, E; Mora, M; Zeviani, M
      Neuromuscular syndrome associated with the 3291T -> C mutation of mitochondrial DNA: a second case

      NEUROMUSCULAR DISORDERS
    11. Besch, D; Wissinger, B; Zrenner, E; Leo-Kottler, B
      A case of liver optic neuropathy with a new point mutation in the cytochrome b gene

      OPHTHALMOLOGE
    12. Sparaco, M; Cavallaro, T; Rossi, G; Rizzuto, N
      Immunohistochemical demonstration of spinal ventral horn cells involvementin a case of "myoclonus epilepsy with ragged red fibers" (MERRF)

      CLINICAL NEUROPATHOLOGY
    13. 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
    14. Lacbawan, F; Tifft, CJ; Luban, NLC; Schmandt, SM; Guerrera, M; Weinstein, S; Pennybacker, M; Wong, LJC
      Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Hutchin, TP; Parker, MJ; Young, ID; Davis, AC; Pulleyn, LJ; Deeble, J; Lench, NJ; Markham, AF; Mueller, RF
      A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family withnon-syndromic sensorineural hearing impairment

      JOURNAL OF MEDICAL GENETICS
    16. Martin, L; Toutain, A; Guillen, C; Haftek, M; Machet, MC; Toledano, C; Arbeille, B; Lorette, G; Rotig, A; Vaillant, L
      Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

      BRITISH JOURNAL OF DERMATOLOGY
    17. Chinnery, PF; Elliott, C; Green, GR; Rees, A; Coulthard, A; Turnbull, DM; Griffiths, TD
      The spectrum of hearing loss due to mitochondrial DNA defects

      BRAIN
    18. Keightley, JA; Anitori, R; Burton, MD; Quan, F; Buist, NRM; Kennaway, NG
      Mitochondrial encephalomyopathy and complex III deficiency associated witha stop-codon mutation in the cytochrome b gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Tanahashi, C; Nakayama, A; Yoshida, M; Ito, M; Mori, N; Hashizume, Y
      MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

      ACTA NEUROPATHOLOGICA
    20. Brini, M; Pinton, P; King, MP; Davidson, M; Schon, EA; Rizzuto, R
      A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

      NATURE MEDICINE
    21. Houshmand, M; Lindberg, C; Moslemi, AR; Oldfors, A; Holme, E
      A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encepharomyopathy: De novo mutation and no transmission to the offspring

      HUMAN MUTATION
    22. Toompuu, M; Tiranti, V; Zeviani, M; Jacobs, HT
      Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids

      HUMAN MOLECULAR GENETICS
    23. Leo-Kottler, B; Christ-Adler, M
      Leber's hereditary optic neuropathy (LHON) in women and children

      OPHTHALMOLOGE
    24. Thieme, H; Wissinger, B; Jandeck, C; Christ-Adler, M; Kraus, H; Kellner, U; Foerster, MH
      A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    25. Besch, D; Leo-Kottler, B; Zrenner, E; Wissinger, B
      Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    26. Wallace, DC; Brown, MD; Lott, MT
      Mitochondrial DNA variation in human evolution and disease

      GENE
    27. Parfait, B; de Lonlay, P; von Kleist-Retzow, JC; Cormier-Daire, V; Chretien, D; Rotig, A; Rabier, D; Saudubray, JM; Rustin, P; Munnich, A
      The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

      EUROPEAN JOURNAL OF PEDIATRICS
    28. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    29. Antonicka, H; Floryk, D; Klement, P; Stratilova, L; Hermanska, J; Houstkova, H; Kalous, M; Drahota, Z; Zeman, J; Houstek, J
      Defective kinetics of cytochrome c oxidase sold alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position8344 nt

      BIOCHEMICAL JOURNAL
    30. White, SL; Shanske, S; McGill, JJ; Mountain, H; Geraghty, MT; DiMauro, S; Dahl, HHM; Thorburn, DR
      Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

      JOURNAL OF INHERITED METABOLIC DISEASE
    31. Kirby, DM; Crawford, M; Cleary, MA; Dahl, HHM; Dennett, X; Thorburn, DR
      Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder

      NEUROLOGY
    32. Arenas, J; Campos, Y; Bornstein, B; Ribacoba, R; Martin, MA; Rubio, JC; Santorelli, FM; Zeviani, M; DiMauro, S; Garesse, R
      A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers

      NEUROLOGY
    33. Hadjigeorgiou, GM; Kim, SH; Fischbeck, KH; Andreu, AL; Berry, GT; Bingham, P; Shanske, S; Bonilla, E; DiMauro, S
      A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    34. Bruno, C; Kirby, DM; Koga, Y; Garavaglia, B; Duran, G; Santorelli, FM; Shield, LK; Xia, WL; Shanske, S; Goldstein, JD; Iwanaga, R; Akita, Y; Carrara, F; Davis, A; Zeviani, M; Thorburn, DR; DiMauro, S
      The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

      JOURNAL OF PEDIATRICS
    35. White, SL; Collins, VR; Wolfe, R; Cleary, MA; Shanske, S; DiMauro, S; Dahl, HHM; Thorburn, DR
      Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. Nagashima, T; Mori, M; Katayama, K; Nunomura, M; Nishihara, H; Hiraga, H; Tanaka, S; Goto, Y; Nagashima, K
      Adult Leigh syndrome with mitochondrial DNA mutation at 8993

      ACTA NEUROPATHOLOGICA
    37. MITANI I; MIYAZAKI S; HAYASHI T; FUKIDOME Y; SHIMOOKU M
      DETECTION OF MITOCHONDRIAL-DNA NUCLEOTIDE-11778 POINT MUTATION OF LEBER HEREDITARY OPTIC NEUROPATHY FROM ARCHIVAL STAINED HISTOPATHOLOGICALPREPARATIONS

      Acta ophthalmologica Scandinavica
    38. KOPSIDAS G; KOVALENKO SA; KELSO JM; LINNANE AW
      AN AGE-ASSOCIATED CORRELATION BETWEEN CELLULAR BIOENERGY DECLINE AND MTDNA REARRANGEMENTS IN HUMAN SKELETAL-MUSCLE

      Mutation research. Fundamental and molecular mechanisms of mutagenesis
    39. OKAJIMA Y; TANABE Y; TAKAYANAGI M; AOTSUKA H
      A FOLLOW-UP-STUDY OF MYOCARDIAL INVOLVEMENT IN PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS)

      HEART
    40. SHOUBRIDGE EA
      MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Current opinion in neurology
    41. SERVIDEI S
      MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders
    42. PEZZI PP; DENEGRI AM; SADUN F; CARELLI V; LEUZZI V
      CHILDHOOD LEBER HEREDITARY OPTIC NEUROPATHY (ND1 3460) WITH VISUAL RECOVERY/

      Pediatric neurology
    43. OPDAL SH; ROGNUM TO; VEGE A; STAVE AK; DUPUY BM; EGELAND T
      INCREASED NUMBER OF SUBSTITUTIONS IN THE D-LOOP OF MITOCHONDRIAL-DNA IN THE SUDDEN-INFANT-DEATH-SYNDROME

      Acta paediatrica
    44. SCHUELKE M; BAKKER M; STOLTENBURG G; SPERNER J; VONMOERS A
      EPILEPSIA PARTIALIS CONTINUA ASSOCIATED WITH A HOMOPLASMIC MITOCHONDRIAL TRNA(SER(UCN)) MUTATION

      Annals of neurology
    45. COCK HR; TABRIZI SJ; COOPER JM; SCHAPIRA AHV
      THE INFLUENCE OF NUCLEAR BACKGROUND ON THE BIOCHEMICAL EXPRESSION OF 3460-LEBERS HEREDITARY OPTIC NEUROPATHY

      Annals of neurology
    46. FRANCESCHINA L; SALANI S; BORDONI A; SCIACCO M; NAPOLI L; COMI GP; PRELLE A; FORTUNATO F; HADJIGEORGIOU GM; FARINA E; BRESOLIN N; DANGELO MG; SCARLATO G
      A NOVEL MITOCHONDRIAL TRNA(ILE) POINT MUTATION IN CHRONIC PROGRESSIVEEXTERNAL OPHTHALMOPLEGIA

      Journal of neurology
    47. DIMAURO S; HIRANO M
      MITOCHONDRIA AND HEART-DISEASE

      Current opinion in cardiology
    48. OHLENBUSCH A; WILICHOWSKI E; HANEFELD F
      CHARACTERIZATION OF THE MITOCHONDRIAL GENOME IN CHILDHOOD MULTIPLE-SCLEROSIS - I - OPTIC NEURITIS AND LHON MUTATIONS

      Neuropediatrics
    49. LIANG MH; WONG LJC
      YIELD OF MTDNA MUTATION ANALYSIS IN 2,000 PATIENTS

      American journal of medical genetics
    50. MITA S; TOKUNAGA M; UYAMA E; KUMAMOTO T; UEKAWA K; UCHINO M
      SINGLE MUSCLE-FIBER ANALYSIS OF MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS

      Muscle & nerve
    51. ZEVIANI M; TIRANTI V; PIANTADOSI C
      MITOCHONDRIAL DISORDERS

      Medicine
    52. 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)
    53. KAMEOKA K; ISOTANI H; TANAKA K; AZUKARI K; FUJIMURA Y; SHIOTA Y; SASAKI E; MAJIMA M; FURUKAWA K; HAGINOMORI S; KITAOKA H; OHSAWA N
      NOVEL MITOCHONDRIAL-DNA MUTATION IN TRNA(LYS) (8296A-]G) ASSOCIATED WITH DIABETES

      Biochemical and biophysical research communications
    54. SCHAPIRA AHV
      HUMAN COMPLEX-I DEFECTS IN NEURODEGENERATIVE DISEASES

      Biochimica et biophysica acta. Bioenergetics
    55. ZEVIANI M; FERNANDEZSILVA P; TIRANTI V
      DISORDERS OF MITOCHONDRIA AND RELATED METABOLISM

      Current opinion in neurology
    56. KERRISON JB; NEWMAN NJ
      CLINICAL SPECTRUM OF LEBERS HEREDITARY OPTIC NEUROPATHY

      Clinical neuroscience
    57. 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

    58. MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders

    59. MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders
    60. 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
    61. HOFMANN S; BEZOLD R; JAKSCH M; OBERMAIERKUSSER B; MERTENS S; KAUFHOLD P; RABL W; HECKER W; GERBITZ KD
      WOLFRAM (DIDMOAD) SYNDROME AND LEBER HEREDITARY OPTIC NEUROPATHY (LHON) ARE ASSOCIATED WITH DISTINCT MITOCHONDRIAL-DNA HAPLOTYPES

      Genomics
    62. SEKI A; NISHINO I; GOTO Y; MAEGAKI Y; KOEDA T
      MITOCHONDRIAL ENCEPHALOMYOPATHY WITH 15915-MUTATION - CLINICAL REPORT

      Pediatric neurology
    63. JACOBS HT
      MITOCHONDRIAL DEAFNESS

      Annals of medicine
    64. TSUKUDA K; SUZUKI Y; KAMEOKA K; OSAWA N; GOTO Y; KATAGIRI H; ASANO T; YAZAKI Y; OKA Y
      SCREENING OF PATIENTS WITH MATERNALLY TRANSMITTED DIABETES FOR MITOCHONDRIAL GENE-MUTATIONS IN THE TRNA(LEU(UUR)) REGION

      Diabetic medicine
    65. LODI R; TAYLOR DJ; TABRIZI SJ; KUMAR S; SWEENEY M; WOOD NW; STYLES P; RADDA GK; SCHAPIRA AHV
      IN-VIVO SKELETAL-MUSCLE MITOCHONDRIAL-FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY ASSESSED BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY

      Annals of neurology
    66. SCHAPIRA AHV; WARNER T; GASH MT; CLEETER MWJ; MARINHO CFM; COPPER JM
      COMPLEX-I FUNCTION IN FAMILIAL AND SPORADIC DYSTONIA

      Annals of neurology
    67. MASUCCI JP; SCHON EA; KING MP
      POINT MUTATIONS IN THE MITOCHONDRIAL TRNA(LYS) GENE - IMPLICATIONS FOR PATHOGENESIS AND MECHANISM

      Molecular and cellular biochemistry
    68. ZHOU L; CHOMYN A; ATTARDI G; MILLER CA
      MYOCLONIC EPILEPSY AND RAGGED-RED FIBERS (MERRF) SYNDROME - SELECTIVEVULNERABILITY OF CNS NEURONS DOES NOT CORRELATE WITH THE LEVEL OF MITOCHONDRIAL TRNA(LYS) MUTATION IN INDIVIDUAL NEURONAL ISOLATES

      The Journal of neuroscience
    69. STINCKENS C; ENSINK R; FEENSTRA L; FRYNS JP; CREMERS C
      NON-SYNDROMIC DOMINANT SENSORINEURAL HEARING-LOSS - FROM A FEW PHENOTYPES TO MANY GENOTYPES

      International journal of pediatric otorhinolaryngology
    70. OZAWA M; NISHINO I; HORAI S; NONAKA I; GOTO Y
      MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS - A G-TO-A MUTATION AT NUCLEOTIDE PAIR-8363 IN MITOCHONDRIAL TRNA(LYS) IN 2 FAMILIES

      Muscle & nerve
    71. BROWN GK
      BOTTLENECKS AND BEYOND - MITOCHONDRIAL-DNA SEGREGATION IN HEALTH AND DISEASE

      Journal of inherited metabolic disease
    72. VERMA A; PICCOLI DA; BONILLA E; BERRY GT; DIMAURO S; MORAES CT
      A NOVEL MITOCHONDRIAL G8313A MUTATION ASSOCIATED WITH PROMINENT INITIAL GASTROINTESTINAL SYMPTOMS AND PROGRESSIVE ENCEPHALONEUROPATHY

      Pediatric research
    73. KAWARAI T; KAWAKAMI H; KOZUKA K; IZUMI Y; MATSUYAMA Z; WATANABE C; KOHRIYAMA T; NAKAMURA S
      A NEW MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MITOCHONDRIAL MYOPATHY - TRNA(LEU(UUR)) 3254C-TO-G

      Neurology
    74. WISSINGER B; BESCH D; BAUMANN B; FAUSER S; CHRISTADLER M; JURKLIES B; ZRENNER E; LEOKOTTLER B
      MUTATION ANALYSIS OF THE ND6 GENE IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Biochemical and biophysical research communications
    75. BENDALL KE; MACAULAY VA; SYKES BC
      VARIABLE LEVELS OF A HETEROPLASMIC POINT MUTATION IN INDIVIDUAL HAIR ROOTS

      American journal of human genetics
    76. MERANTE F; MYINT T; TEIN I; BENSON L; ROBINSON BH
      AN ADDITIONAL MITOCHONDRIAL TRNA(ILE) POINT MUTATION (A-TO-G NUCLEOTIDE-4295) CAUSING HYPERTROPHIC CARDIOMYOPATHY

      Human mutation
    77. MANFREDI G; SCHON EA; BONILLA E; MORAES CT; SHANSKE S; DIMAURO S
      IDENTIFICATION OF A MUTATION IN THE MITOCHONDRIAL TRNA(CYS) GENE ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOPATHY

      Human mutation

    78. MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders

    79. MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders
    80. SERRA G; PICCINNU R; TONDI M; MUNTONI F; ZEVIANI M; MASTROPAOLO C
      CLINICAL AND EEG FINDINGS IN 11 PATIENTS AFFECTED BY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MERRF-MELAS OVERLAP

      Brain & development
    81. MASUCCI JP; SCHON EA
      TRANSFER-RNA PROCESSING IN HUMAN MITOCHONDRIAL DISORDERS

      Molecular biology reports
    82. FADIC R; JOHNS DR
      CLINICAL SPECTRUM OF MITOCHONDRIAL DISEASES

      Seminars in neurology
    83. BYNKE H; BYNKE G; ROSENBERG T
      IS LEBERS HEREDITARY OPTIC NEUROPATHY A RETINAL DISORDER

      Neuro-ophthalmology
    84. CAMPOS Y; MARTIN MA; LORENZO G; APARICIO M; CABELLO A; ARENAS J
      SPORADIC MERRF MELAS OVERLAP SYNDROME-ASSOCIATED WITH THE 3243-TRNA(LEU(UUR)) MUTATION OF MITOCHONDRIAL-DNA/

      Muscle & nerve
    85. ZEVIANI M; BERTAGNOLIO B; UZIEL G
      NEUROLOGICAL PRESENTATIONS OF MITOCHONDRIAL DISEASES

      Journal of inherited metabolic disease
    86. SHOFFNER JM
      MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES

      Lancet
    87. 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
    88. ISASHIKI Y; OHBA N; HOKITA N; SAKAMOTO Y; UEMURA A; NAKAGAWA M; OSAME M; IZUMO S
      ASSESSMENT OF MITOCHONDRIAL GENE IN PROLIFERATIVE VITREORETINAL TISSUES FROM PATIENTS WITH FAMILIAL DIABETES-MELLITUS

      Japanese Journal of Ophthalmology
    89. GATTERMANN N; RETZLAFF S; WANG YL; BERNEBURG M; HEINISCH J; WLASCHEK M; AUL C; SCHNEIDER W
      A HETEROPLASMIC POINT MUTATION OF MITOCHONDRIAL TRNA(LEU)(CUN) IN NONLYMPHOID HEMATOPOIETIC-CELL LINEAGES FROM A PATIENT WITH ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA

      British Journal of Haematology
    90. SILVESTRI G; SERVIDEI S; RANA M; RICCI E; SPINAZZOLA A; PARIS E; TONALI P
      A NOVEL MITOCHONDRIAL-DNA POINT MUTATION IN THE TRNA(ILE) GENE IS ASSOCIATED WITH PROGRESSIVE EXTERNAL OPHTALMOPLEGIA

      Biochemical and biophysical research communications
    91. DEVRIES DD; WENT LN; BRUYN GW; SCHOLTE HR; HOFSTRA RMW; BOLHUIS PA; VANOOST BA
      GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA

      American journal of human genetics
    92. SHOFFNER JM; KAUFMAN A; KOONTZ D; KRAWIECKI N; SMITH E; TOPP M; WALLACE DC
      OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA

      Clinical neuroscience
    93. MANFREDI G; SCHON EA; MORAES CT; BONILLA E; BERRY GT; SLADKY JT; DIMAURO S
      A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE

      Neuromuscular disorders

    94. MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION

      Neuromuscular disorders
    95. WALLACE DC; SHOFFNER JM; TROUNCE I; BROWN MD; BALLINGER SW; CORRALDEBRINSKI M; HORTON T; JUN AS; LOTT MT
      MITOCHONDRIAL-DNA MUTATIONS IN HUMAN DEGENERATIVE DISEASES AND AGING

      Biochimica et biophysica acta. Molecular basis of disease
    96. ATTARDI G; YONEDA M; CHOMYN A
      COMPLEMENTATION AND SEGREGATION BEHAVIOR OF DISEASE-CAUSING MITOCHONDRIAL-DNA MUTATIONS IN CELLULAR-MODEL SYSTEMS

      Biochimica et biophysica acta. Molecular basis of disease
    97. SAVONTAUS ML
      MTDNA MUTATIONS IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Biochimica et biophysica acta. Molecular basis of disease
    98. MARIOTTI C; SAVARESE N; SUOMALAINEN A; RIMOLDI M; COMI G; PRELLE A; ANTOZZI C; SERVIDEI S; JARRE L; DIDONATO S; ZEVIANI M
      GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA

      Journal of neurology
    99. SHOFFNER JM; BIALER MG; PAVLAKIS SG; LOTT M; KAUFMAN A; DIXON J; TEICHBERG S; WALLACE DC
      MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A SINGLE NUCLEOTIDE PAIR DELETION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE

      Neurology
    100. HUANG CC; WAI YY; CHU NS; LIOU CW; PANG CY; SHIH KD; WEI YH
      MITOCHONDRIAL ENCEPHALOMYOPATHIES - CT AND MRI FINDINGS AND CORRELATIONS WITH CLINICAL-FEATURES

      European neurology


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Documento generato il 07/08/20 alle ore 03:53:49