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La ricerca find articoli where authors phrase all words 'SHOFFNER JM' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 43 riferimenti
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    1. Shoffner, JM
      Mitochondrial disorders - Preface

      SEMINARS IN NEUROLOGY
    2. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    3. Shoffner, JM
      Mitochondrial myopathy diagnosis

      NEUROLOGIC CLINICS
    4. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    5. Mirra, SS; Murrell, JR; Gearing, M; Spillantini, MG; Goedert, M; Crowther, A; Levey, AI; Jones, R; Green, J; Shoffner, JM; Wainer, BH; Schmidt, ML; Trojanowski, JQ; Ghetti, B
      Tau pathology in a family with dementia and a P301L mutation in tau

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    6. GEARING M; LEVEY AI; JONES R; WALTON W; SHOFFNER JM; SCHMIDT ML; TROJANOWSKI JO; GHETTI B; MIRRA SS
      TAU-CYTOPATHOLOGY IN A PATIENT WITH FAMILIAL EARLY-ONSET DEMENTIA

      Journal of neuropathology and experimental neurology
    7. SORKIN JA; SHOFFNER JM; GROSSNIKLAUS HE; DRACK AV; LAMBERT SR
      STRABISMUS AND MITOCHONDRIAL DEFECTS IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

      American journal of ophthalmology
    8. MELOV S; SHOFFNER JM; KAUFMAN A; WALLACE DC
      MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995)

      Nucleic acids research
    9. JUN AS; TROUNCE IA; BROWN MD; SHOFFNER JM; WALLACE DC
      USE OF TRANSMITOCHONDRIAL CYBRIDS TO ASSIGN A COMPLEX-I DEFECT TO THEMITOCHONDRIAL DNA-ENCODED NADH DEHYDROGENASE SUBUNIT-6 GENE MUTATION AT NUCLEOTIDE PAIR-14459 THAT CAUSES LEBER HEREDITARY OPTIC NEUROPATHYAND DYSTONIA

      Molecular and cellular biology
    10. BROWN MD; SHOFFNER JM; KIM YL; JUN AS; GRAHAM BH; CABELL MF; GURLEY DS; WALLACE DC
      MITOCHONDRIAL-DNA SEQUENCE-ANALYSIS OF 4 ALZHEIMERS-DISEASE AND PARKINSONS-DISEASE PATIENTS

      American journal of medical genetics
    11. SHOFFNER JM
      MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES

      Lancet
    12. KOONTZ DA; THOMAS B; KAUFMAN A; GRAHAM J; WALLACE DC; SHOFFNER JM
      OXIDATIVE-PHOSPHORYLATION ENZYME-ACTIVITIES AND MITOCHONDRIAL COENZYME-Q10 DECREASE WITH NORMAL AGING

      Neurology
    13. SHOFFNER JM; BROWN MD; HUOPONEN K; STUGARD C; KOONTZ D; KAUFMAN A; GRAHAM J; JUNCOS J; WATTS RL; WALLACE DC
      A MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH MATERNALLY INHERITED DEAFNESS AND PARKINSONS-DISEASE

      Neurology
    14. BROWN MD; JUN AS; SHOFFNER JM; WALLACE DC
      COMPLEX I DEFECT ASSIGNED TO THE LEBER HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR 14,459 THROUGH CYBRID TRANSFER

      Neurology
    15. WALLACE DC; FLEMING WH; KRAWIECKI N; YEAGER AM; SHOFFNER JM
      GRANULOCYTE-COLONY-STIMULATING FACTOR AND ERYTHROPOIETIN THERAPY IN PEARSONS SYNDROME

      Neurology
    16. GEBHART SSP; SHOFFNER JM; KOONTZ D; KAUFMAN A; WALLACE D
      INSULIN-RESISTANCE ASSOCIATED WITH MATERNALLY INHERITED DIABETES AND DEAFNESS

      Metabolism, clinical and experimental
    17. NORTH K; KORSON MS; KRAWIECKI N; SHOFFNER JM; HOLM IA
      OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY

      The Journal of pediatrics
    18. SHOFFNER JM
      MITOCHONDRIAL DEFECTS IN BASAL GANGLIA DISEASES

      Current opinion in neurology
    19. SHOFFNER JM; KAUFMAN A; KOONTZ D; KRAWIECKI N; SMITH E; TOPP M; WALLACE DC
      OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA

      Clinical neuroscience
    20. 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
    21. SHOFFNER JM; BROWN MD; STUGARD C; JUN AS; POLLOCK S; HAAS RH; KAUFMAN A; KOONTZ D; KIM Y; GRAHAM JR; SMITH E; DIXON J; WALLACE DC
      LEBERS HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA IS CAUSED BY A MITOCHONDRIAL-DNA POINT MUTATION

      Annals of neurology
    22. MELOV S; SHOFFNER JM; KAUFMAN A; WALLACE DC
      MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE (VOL 23, PG 4122, 1995)

      Nucleic acids research
    23. MELOV S; SHOFFNER JM; KAUFMAN A; WALLACE DC
      MARKED INCREASE IN THE NUMBER AND VARIETY OF MITOCHONDRIAL-DNA REARRANGEMENTS IN AGING HUMAN SKELETAL-MUSCLE

      Nucleic acids research
    24. SHOFFNER JM; VOLJAVEC AS; DIXON J; KAUFMAN A; WALLACE DC; MITCH WE
      RENAL AMINO-ACID-TRANSPORT IN ADULTS WITH OXIDATIVE-PHOSPHORYLATION DISEASES

      Kidney international
    25. 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
    26. HORTON TM; GRAHAM BH; CORRALDEBRINSKI M; SHOFFNER JM; KAUFMAN AE; BEAL MF; WALLACE DC
      MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS

      Neurology
    27. JUN AS; TROUNCE IA; BROWN MD; SHOFFNER JM; WALLACE DC
      CYTOPLASMIC TRANSFER OF A COMPLEX-I DEFECT ASSOCIATED WITH THE MITOCHONDRIAL-DNA (MTDNA)-ENCODED ND6 NP-14459 MUTATION CAUSING LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA

      American journal of human genetics
    28. SHOFFNER JM; FLEMING WH; KRAWIECKI N; YEAGER AM; WALLACE DC
      GRANULOCYTE-COLONY-STIMULATING FACTOR (G-CSF) AND ERYTHROPOIETIN (EPO) THERAPY IN PEARSONS SYNDROME (PS)

      American journal of human genetics
    29. HUOPONEN K; BROWN MD; SHOFFNER JM; WALLACE DC
      MITOCHONDRIAL TRANSFER-RNA MUTATIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES

      American journal of human genetics
    30. BALLINGER SW; SHOFFNER JM; GEBHART S; KOONTZ DA; WALLACE DC
      MITOCHONDRIAL DIABETES REVISITED

      Nature genetics
    31. CORRALDEBRINSKI M; HORTON T; LOTT MT; SHOFFNER JM; MCKEE AC; BEAL MF; GRAHAM BH; WALLACE DC
      MARKED CHANGES IN MITOCHONDRIAL-DNA DELETION LEVELS IN ALZHEIMER BRAINS

      Genomics
    32. SHOFFNER JM; WALLACE DC
      OXIDATIVE-PHOSPHORYLATION DISEASES AND MITOCHONDRIAL-DNA MUTATIONS - DIAGNOSIS AND TREATMENT

      Annual review of nutrition
    33. SHOFFNER JM; WALLACE DC; KOONTZ D
      OXIDATIVE-PHOSPHORYLATION (OXPHOS) DEFECTS AND PARKINSONS-DISEASE (PD)

      Neurology
    34. WALLACE DC; HORTON T; CORRALDEBRINSKI M; SHOFFNER JM; LOTT MT; BEAL MF
      MARKED CHANGES IN MITOCHONDRIAL-DNA (MTDNA) DELETION LEVELS IN ALZHEIMERS BRAINS

      Neurology
    35. WALLACE DC; LOTT MT; SHOFFNER JM; BALLINGER S
      MITOCHONDRIAL-DNA MUTATIONS IN EPILEPSY AND NEUROLOGICAL DISEASE

      Epilepsia
    36. SHOFFNER JM; BROWN MD; TORRONI A; LOTT MT; CABELL MF; MIRRA SS; BEAL MF; YANG CC; GEARING M; SALVO R; WATTS RL; JUNCOS JL; HANSEN LA; CRAIN BJ; FAYAD M; RECKORD CL; WALLACE DC
      MITOCHONDRIAL-DNA VARIANTS OBSERVED IN ALZHEIMER-DISEASE AND PARKINSON DISEASE PATIENTS

      Genomics
    37. HARAGUCHI Y; CHUNG AB; TORRONI A; STEPIEN G; SHOFFNER JM; WASMUTH JJ; COSTIGAN DA; POLAK M; ALTHERR MR; WINOKUR ST; WALLACE DC
      GENETIC-MAPPING OF HUMAN HEART SKELETAL-MUSCLE ADENINE-NUCLEOTIDE TRANSLOCATOR AND ITS RELATIONSHIP TO THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY LOCUS

      Genomics
    38. MECOCCI P; MACGARVEY U; KAUFMAN AE; KOONTZ D; SHOFFNER JM; WALLACE DC; BEAL MF
      OXIDATIVE DAMAGE TO MITOCHONDRIAL-DNA SHOWS MARKED AGE-DEPENDENT INCREASES IN HUMAN BRAIN

      Annals of neurology
    39. WALLACE DC; SHOFFNER JM
      SUBACUTE NECROTIZING ENCEPHALOPATHY (SNE) - OXIDATIVE-PHOSPHORYLATIONDEFECTS AND THE ATPASE-6 POINT MUTATION

      Neurology
    40. SHOFFNER JM; BROWN M; TORRONI A; WALLACE DC
      MITOCHONDRIAL-DNA (MTDNA) MUTATIONS ASSOCIATED WITH ALZHEIMERS (AD) AND PARKINSONS-DISEASE (PD)

      Neurology
    41. ORTIZ RG; NEWMAN NJ; SHOFFNER JM; KAUFMAN AE; KOONTZ DA; WALLACE DC
      VARIABLE RETINAL AND NEUROLOGIC MANIFESTATIONS IN PATIENTS HARBORING THE MITOCHONDRIAL-DNA 8993 MUTATION

      Archives of ophthalmology
    42. SHOFFNER JM; KRAWIECKI N; CABELL MF; TORRONI A; WALLACE DC
      A NOVEL TRNALEU(UUR) MUTATION IN CHILDHOOD MITOCHONDRIAL MYOPATHY

      American journal of human genetics
    43. BIALER MG; SHOFFNER JM; PAVLAKIS SG; KAUFMAN AE; TEICHBERG S; MISTHOS M
      A NEW MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH THE 3271 MITOCHONDRIAL-DNA POINT MUTATION

      American journal of human genetics


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Documento generato il 11/08/20 alle ore 21:10:25