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    1. Iwasaki, N; Babazono, T; Tsuchiya, K; Tomonaga, O; Suzuki, A; Togashi, M; Ujihara, N; Sakka, Y; Yokokawa, H; Ogata, M; Nihei, H; Iwamoto, Y
      Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease

      JOURNAL OF HUMAN GENETICS
    2. Camilleri, M
      Enteric nervous system disorders: genetic and molecular insights for the neurogastroenterologist

      NEUROGASTROENTEROLOGY AND MOTILITY
    3. Geromel, V; Kadhom, N; Ceballos-Picot, I; Chretien, D; Munnich, A; Rotig, A; Rustin, P
      Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

      FREE RADICAL RESEARCH
    4. Nariai, R; Ohno, K; Ohta, Y; Hirakawa, K; Ishii, I; Senda, M
      Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient

      JOURNAL OF NEUROIMAGING
    5. Ko, CH; Lam, CW; Tse, PWT; Kong, CK; Chan, AKH; Wong, LJC
      De novo mutation in the mitochondrial tRNA(Leu(UUR)) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    6. Tessa, A; Giannotti, A; Tieri, L; Vilarinho, L; Marotta, G; Santorelli, FM
      Maternally inherited deafness associated with a T1095C mutation in the mDNA

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Moilanen, JS; Majamaa, K
      Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

      EUROPEAN JOURNAL OF HUMAN GENETICS
    8. Nishino, I; Spinazzola, A; Hirano, M
      MNGIE: from nuclear DNA to mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    9. Campos, Y; Garcia-Redondo, A; Fernandez-Moreno, MA; Martinez-Pardo, M; Goda, G; Rubio, JC; Martin, MA; del Hoyo, P; Cabello, A; Bornstein, B; Garesse, R; Arenas, J
      Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene

      ANNALS OF NEUROLOGY
    10. Siciliano, G; Mancuso, M; Tedeschi, D; Manca, ML; Renna, MR; Lombardi, V; Rocchi, A; Martelli, F; Murri, L
      Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonicdystrophy

      BRAIN RESEARCH BULLETIN
    11. Uimonen, S; Moilanen, JS; Sorri, M; Hassinen, IE; Majamaa, K
      Hearing impairment in patients with 3243A -> G mtDNA mutation: phenotype and rate of progression

      HUMAN GENETICS
    12. Gold, DR; Cohen, BH
      Treatment of mitochondrial cytopathies

      SEMINARS IN NEUROLOGY
    13. Rango, M; Bozzali, M; Prelle, A; Scarlato, G; Bresolin, N
      Brain activation in normal subjects and in patients affected by mitochondrial disease without clinical central nervous system involvement: A phosphorus magnetic resonance spectroscopy study

      JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
    14. Walker, UA; Venhoff, N
      Multiple mitochondrial DNA deletions and lactic acidosis in an HIV-infected patient under antiretroviral therapy

      AIDS
    15. Aros, SD; Camilleri, M
      Small-bowel motility

      CURRENT OPINION IN GASTROENTEROLOGY
    16. Cottrell, DA; Blakely, EL; Johnson, MA; Ince, PG; Borthwick, GM; Turnbull, DM
      Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

      NEUROBIOLOGY OF AGING
    17. 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
    18. Carmi, E; Defossez, C; Morin, G; Fraitag, S; Lok, C; Westeel, PF; Canaple, S; Denoeux, JP
      MELAS syndrome (Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes)

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    19. Nishikai, K; Shimada, A; Iwanaga, S; Yamada, T; Yamada, S; Ishii, T; Maruyama, H; Saruta, T
      Progression of cardiac dysfunction in a case of mitochondrial diabetes - Acase report

      DIABETES CARE
    20. Suomalainen, A; Kaukonen, J
      Diseases caused by nuclear genes affecting mtDNA stability

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Lerman-Sagie, T; Rustin, P; Lev, D; Yanoov, M; Leshinsky-Silver, E; Sagie, A; Ben-Gal, T; Munnich, A
      Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

      JOURNAL OF INHERITED METABOLIC DISEASE
    22. 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
    23. Finsterer, J; Jarius, C; Baumgartner, M
      Parkinson's disease associated with impaired oxidative phosphorylation

      NEURORADIOLOGY
    24. Di Giovanni, S; Mirabella, M; Spinazzola, A; Crociani, P; Silvestri, G; Broccolini, A; Tonali, P; Di Mauro, S; Servidei, S
      Coenzyme Q(10) reverses pathological phenotype and reduces apoptosis in familial CoQ(10) deficiency

      NEUROLOGY
    25. Jaksch, M; Lochmuller, H; Schmitt, F; Volpel, B; Obermaier-Kusser, B; Horvath, R
      A mutation in mt tRNALeu ((UUR)) causing a neuropsychiatric syndrome with depression and cataract

      NEUROLOGY
    26. Musumeci, O; Naini, A; Slonim, AE; Skavin, N; Hadjigeorgiou, GL; Krawiecki, N; Weissman, BM; Tsao, CY; Mendell, JR; Shanske, S; De Vivo, DC; Hirano, M; DiMauro, S
      Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

      NEUROLOGY
    27. Rahman, S; Hargreaves, I; Clayton, P; Heales, S
      Neonatal presentation of coenzyme Q(10) deficiency

      JOURNAL OF PEDIATRICS
    28. Kapur, RP
      Neuropathology of paediatric chronic intestinal pseudo-obstruction and related animal models

      JOURNAL OF PATHOLOGY
    29. Amagasaki, K; Shimizu, T; Suzuki, Y; Kakizawa, T
      Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes - Case report

      JOURNAL OF NEUROSURGERY
    30. Sahashi, K; Yoneda, M; Ohno, K; Tanaka, M; Ibi, T; Sahashi, K
      Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877G -> A) associated with familial chronic progressive external ophthalmoplegia

      JOURNAL OF MEDICAL GENETICS
    31. Chinnery, PF; Jones, S; Sviland, L; Andrews, RM; Parsons, TJ; Turnbull, DM; Bindoff, LA
      Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

      GUT
    32. Finsterer, J; Pelzl, G; Zartl, M; Unger, E; Mamoli, B
      Video-EEG monitoring in respiratory chain disorders

      CLINICAL ELECTROENCEPHALOGRAPHY
    33. Guttman, A; Gao, HG; Haas, R
      Rapid analysis of mitochondrial DNA heteroplasmy in diabetes by gel-microchip electrophoresis

      CLINICAL CHEMISTRY
    34. Sternberg, D; Chatzoglou, E; Laforet, P; Fayet, G; Jardel, C; Blondy, P; Fardeau, M; Amselem, S; Eymard, B; Lombes, A
      Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders

      BRAIN
    35. Seneca, S; Verhelst, H; De Meirleir, L; Meire, F; Groote, CCD; Lissens, W; Van Coster, R
      A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome

      ARCHIVES OF NEUROLOGY
    36. Deschauer, M; Muller, T; Wieser, T; Schulte-Mattler, W; Kornhuber, M; Zierz, S
      Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation

      ARCHIVES OF NEUROLOGY
    37. Lien, LM; Lee, HC; Wang, KL; Chiu, JC; Chiu, HC; Wei, YH
      Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA

      ACTA NEUROLOGICA SCANDINAVICA
    38. DiMauro, S; Hirano, M; Schon, EA
      Mitochondrial encephalomyopathies: therapeutic approaches

      NEUROLOGICAL SCIENCES
    39. Taylor, RW; Wardell, TM; Lightowlers, RN; Turnbull, DM
      Molecular basis for treatment of mitochondrial myopathies

      NEUROLOGICAL SCIENCES
    40. Napolitano, A; Salvetti, S; Vista, M; Lombardi, V; Siciliano, G; Giraldi, C
      Long-term treatment with idebenone and riboflavin in a patient with MELAS

      NEUROLOGICAL SCIENCES
    41. Loeffen, JLCM; Smeitink, JAM; Trijbels, JMF; Janssen, AJM; Triepels, RH; Sengers, RCA; van den Heuvel, LP
      Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

      HUMAN MUTATION
    42. Paul, R; Desnuelle, C; Pouget, J; Pellissier, JF; Richelme, C; Monfort, MF; Butori, C; Saunieres, A; Paquis-Flucklinger, V
      Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions

      EUROPEAN JOURNAL OF HUMAN GENETICS
    43. Lehtonen, MS; Uimonen, S; Hassinen, IE; Majamaa, K
      Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

      EUROPEAN JOURNAL OF HUMAN GENETICS
    44. Lorda-Sanchez, I; Garcia-Ruiz, PJ; De Alba, MR; Montoya, J; Playan, A; Sarasa, JL; Trujillo, MJ; Sanz, R; Ramos, C; Ayuso, C
      A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient

      GENETIC COUNSELING
    45. Sue, CM; Schon, EA
      Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?

      BRAIN PATHOLOGY
    46. Hirano, M; Vu, TH
      Defects of intergenomic communication: Where do we stand?

      BRAIN PATHOLOGY
    47. Campos, Y; Martin, MA; Caballero, C; Rubio, JC; de la Cruz, F; Tunon, T; Arenas, J
      Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

      NEUROMUSCULAR DISORDERS
    48. Schleiffer, T; 't Hart, LM; Schurfeld, C; Kraatz, K; Riemann, JF
      Maternally inherited diabetes and deafness (MIDD): unusual occult exocrinepancreatic manifestation in an affected German family

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    49. Rusanen, H; Majamaa, K; Hassinen, IE
      Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts with the 3243A -> G mutation in mitochondrial DNA

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    50. Tanaka, K; Takada, Y; Matsunaka, T; Yuyama, S; Fujino, S; Maguchi, M; Yamashita, S; Yuba, I
      Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patientwith an A3243G mutation of the mitochondrial DNA

      INTERNAL MEDICINE
    51. 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
    52. Hirano, I; Pandolfino, J
      Chronic intestinal pseudo-obstruction

      DIGESTIVE DISEASES
    53. Hayashi, N; Geraghty, MT; Green, WR
      Ocular histopathologic study of a patient with the T 8993-G point mutationin Leigh's syndrome

      OPHTHALMOLOGY
    54. Sato, Y; Nakagawa, M; Higuchi, I; Osame, M; Naito, E; Oizumi, K
      Mitochondrial myopathy and familial thiamine deficiency

      MUSCLE & NERVE
    55. Rotig, A; Appelkvist, EL; Geromel, V; Chretien, D; Kadhom, N; Edery, P; Lebideau, M; Dallner, G; Munnich, A; Ernster, L; Rustin, P
      Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q(10) deficiency

      LANCET
    56. Tanaka, M; Gong, JS; Zhang, J; Yamada, Y; Borgeld, HJ; Yagi, K
      Mitochondrial genotype associated with longevity and its inhibitory effecton mutagenesis

      MECHANISMS OF AGEING AND DEVELOPMENT
    57. Ohshita, T; Oka, M; Imon, Y; Watanabe, C; Katayama, S; Yamaguchi, S; Kajima, T; Mimori, Y; Nakamura, S
      Serial diffusion-weighted imaging in MELAS

      NEURORADIOLOGY
    58. Peng, NJ; Liu, RS; Li, JY; Tsay, DG; Kong, KW; Kwok, CG; Strauss, HW
      Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT

      NEURORADIOLOGY
    59. Molnar, MJ; Valikovics, A; Molnar, S; Tron, L; Dioszeghy, P; Mechler, F; Gulyas, B
      Cerebral blood flow and glucose metabolism in mitochondrial disorders

      NEUROLOGY
    60. Santorelli, FM; Villanova, M; Malandrini, A; Grieco, GS; Palmeri, S; Merlini, L; Casali, C
      Chronic diarrhea associated with the A3243G mtDNA mutation

      NEUROLOGY
    61. de Lonlay-Debeney, P; von Kleist-Retzow, JC; Hertz-Pannier, L; Peudenier, S; Cormier-Daire, V; Berquin, P; Chretien, D; Rotig, A; Saudubray, JM; Baraton, J; Brunelle, F; Rustin, P; Van der Knaap, M; Munnich, A
      Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

      JOURNAL OF PEDIATRICS
    62. Ibrahim, WH; Bhagavan, HN; Chopra, RK; Chow, CK
      Dietary coenzyme Q10 and vitamin E alter the status of these compounds in rat tissues and mitochondria

      JOURNAL OF NUTRITION
    63. Jonassen, T; Clarke, CF
      Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    64. Houstek, J
      Genetic aspects of mitochondrial encephalomyoptahies

      BIOLOGIA
    65. 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
    66. Mori, O; Yamazaki, M; Ohaki, Y; Arai, Y; Oguro, T; Shimizu, H; Asano, G
      Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology

      ACTA NEUROPATHOLOGICA
    67. Hofhaus, G; Gattermann, N
      Mitochondria harbouring mutant mtDNA - a cuckoo in the nest?

      BIOLOGICAL CHEMISTRY
    68. Hanna, MG; Nelson, IP
      Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases

      CELLULAR AND MOLECULAR LIFE SCIENCES
    69. 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
    70. Taivassalo, T; Fu, K; Johns, T; Arnold, D; Karpati, G; Shoubridge, EA
      Gene shifting: a novel therapy for mitochondrial myopathy

      HUMAN MOLECULAR GENETICS
    71. Asaumi, S; Kuroyanagi, H; Seki, N; Shirasawa, T
      Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human

      GENOMICS
    72. Fujimoto, S; Mizuno, K; Shibata, H; Kanayama, M; Kobayashi, M; Sugiyama, N; Ban, K; Ishikawa, T; Itoh, T; Togari, H; Wada, Y
      Serial electroencephalographic findings in patients with MELAS

      PEDIATRIC NEUROLOGY
    73. DiMauro, S
      Exercise intolerance and the mitochondrial respiratory chain

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    74. Pulkes, T; Eunson, L; Patterson, V; Siddiqui, A; Wood, NW; Nelson, IP; Morgan-Hughes, JA; Hanna, MG
      The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

      ANNALS OF NEUROLOGY
    75. Morin, C; Dube, J; Robinson, BH; Lacroix, J; Michaud, J; De Braekeleer, M; Geoffroy, G; Lortie, A; Blanchette, C; Lambert, MA; Mitchell, GA
      Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

      ANNALS OF NEUROLOGY
    76. Damore, ME; Speiser, PW; Slonim, AE; New, MI; Shanske, S; Xia, WL; Santorelli, FM; DiMauro, S
      Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    77. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    78. Memain, N; Larroche, C; Dray, JM; Piette, AM; Bletry, O
      Greek, but no Olympian

      REVUE DE MEDECINE INTERNE
    79. de Lonlay-Debeney, P; Edery, P; Cormier-Daire, V; Parfait, B; Chretien, D; Rotig, A; Romero, N; Saudubray, JM; Munnich, A; Rustin, P
      Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood

      NEUROPEDIATRICS
    80. Nakamura, S; Yoshinari, M; Doi, Y; Yoshizumi, H; Katafuchi, R; Yokomizo, Y; Nishiyama, K; Wakisaka, M; Fujishima, M
      Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA

      DIABETES RESEARCH AND CLINICAL PRACTICE
    81. Massin, P; Virally-Monod, M; Vialettes, B; Paques, M; Gin, H; Porokhov, B; Caillat-Zucman, S; Froguel, P; Paquis-Fluckinger, V; Gaudric, A; Guillausseau, PJ
      Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness

      OPHTHALMOLOGY
    82. Chinnery, PF; Turnbull, DM
      Mitochondrial DNA and disease

      LANCET
    83. Andreassen, OA; Weber, C; Jorgensen, HA
      Coenzyme Q10 does not prevent oral dyskinesias induced by long-term haloperidol treatment of rats

      PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR
    84. Momiyama, Y; Atsumi, Y; Ohsuzu, F; Ui, S; Morinaga, S; Matsuoka, K; Kimura, M
      Rapid progression of cardiomyopathy in mitochondrial diabetes

      JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION
    85. Awadalla, P; Eyre-Walker, A; Smith, JM
      Linkage disequilibrium and recombination in hominid mitochondrial DNA

      SCIENCE
    86. Yoneda, M; Maeda, M; Kimura, H; Fujii, A; Katayama, K; Kuriyama, M
      Vasogenic edema on MELAS: A serial study with diffusion-weighted MR imaging

      NEUROLOGY
    87. Klopstock, T; Jaksch, M; Gasser, T
      Age and cause of death in mitochondrial diseases

      NEUROLOGY
    88. Moslemi, AR; Melberg, A; Holme, E; Oldfors, A
      Autosomal dominant progressive external ophthalmoplegia - Distribution of multiple mitochondrial DNA deletions

      NEUROLOGY
    89. Rubio-Gozalbo, ME; Smeitink, JAM; Ruitenbeek, W; Ter Laak, H; Mullaart, RA; Schuelke, M; Mariman, ECM; Sengers, RCA; Gabreels, FJM
      Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

      NEUROLOGY
    90. Turconi, AC; Benti, R; Castelli, E; Pochintesta, S; Felisari, G; Comi, G; Gagliardi, C; Del Piccolo, L; Bresolin, N
      Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    91. Abe, K; Matsuo, Y; Kadekawa, J; Inoue, S; Yanagihara, T
      Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): Evaluation by noninvasive tissue oximetry

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    92. Sue, CM; Bruno, C; Andreu, AL; Cargan, A; Mendell, JR; Tsao, CY; Luquette, M; Paolicchi, J; Shanske, S; DiMauro, S; De Vivo, DC
      Infantile encephalopathy associated with the MELAS A3243G mutation

      JOURNAL OF PEDIATRICS
    93. Pugliese, A; Kawasaki, E; Zeller, M; Yu, LP; Babu, S; Solimena, M; Moraes, CT; Pietropaolo, M; Friday, RP; Trucco, M; Ricordi, C; Allen, M; Noble, JA; Erlich, HA; Eisenbarth, GS
      Sequence analysis of the diabetes-protective human leukocyte antigen-DQB1*0602 allele in unaffected, islet cell antibody-positive first degree relatives and in rare patients with type 1 diabetes

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    94. Rinaudo, P; Niven-Fairchild, T; Buradagunta, S; Massobrio, M; Revelli, A; Keefe, DL
      Microinjection of mitochondria into zygotes creates a model for studying the inheritance of mitochondrial DNA during preimplantation development

      FERTILITY AND STERILITY
    95. Karvonen, SL; Haapasaari, KM; Kallioinen, M; Oikarinen, A; Hassinen, IE; Majamaa, K
      Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS)

      BRITISH JOURNAL OF DERMATOLOGY
    96. Taanman, JW
      The mitochondrial genome: structure, transcription, translation and replication

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    97. Morgan-Hughes, JA; Hanna, MG
      Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    98. Bonilla, E; Tanji, K; Hirano, M; Vu, TH; DiMauro, S; Schon, EA
      Mitochondrial involvement in Alzheimer's disease

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    99. Rahman, S; Taanman, JW; Cooper, JM; Nelson, I; Hargreaves, I; Meunier, B; Hanna, MG; Garcia, JJ; Capaldi, RA; Lake, BD; Leonard, JV; Schapira, AHV
      A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    100. Tsuchiya, K; Miyazaki, H; Akabane, H; Yamamoto, M; Kondo, H; Mizusawa, H; Ikeda, K
      MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study

      ACTA NEUROPATHOLOGICA


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Documento generato il 08/08/20 alle ore 04:41:43