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    1. Camilleri, M
      Enteric nervous system disorders: genetic and molecular insights for the neurogastroenterologist

      NEUROGASTROENTEROLOGY AND MOTILITY
    2. 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
    3. 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
    4. Nishino, I; Spinazzola, A; Hirano, M
      MNGIE: from nuclear DNA to mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    5. 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
    6. Gold, DR; Cohen, BH
      Treatment of mitochondrial cytopathies

      SEMINARS IN NEUROLOGY
    7. Aros, SD; Camilleri, M
      Small-bowel motility

      CURRENT OPINION IN GASTROENTEROLOGY
    8. 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
    9. 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
    10. 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
    11. 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
    12. Rahman, S; Hargreaves, I; Clayton, P; Heales, S
      Neonatal presentation of coenzyme Q(10) deficiency

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

      JOURNAL OF PATHOLOGY
    14. 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
    15. Finsterer, J; Pelzl, G; Zartl, M; Unger, E; Mamoli, B
      Video-EEG monitoring in respiratory chain disorders

      CLINICAL ELECTROENCEPHALOGRAPHY
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. Hirano, I; Pandolfino, J
      Chronic intestinal pseudo-obstruction

      DIGESTIVE DISEASES
    22. 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
    23. 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
    24. Santorelli, FM; Villanova, M; Malandrini, A; Grieco, GS; Palmeri, S; Merlini, L; Casali, C
      Chronic diarrhea associated with the A3243G mtDNA mutation

      NEUROLOGY
    25. Jonassen, T; Clarke, CF
      Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    26. 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
    27. Hanna, MG; Nelson, IP
      Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases

      CELLULAR AND MOLECULAR LIFE SCIENCES
    28. Asaumi, S; Kuroyanagi, H; Seki, N; Shirasawa, T
      Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human

      GENOMICS
    29. 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
    30. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

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

      REVUE DE MEDECINE INTERNE
    32. 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
    33. 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
    34. 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
    35. Klopstock, T; Jaksch, M; Gasser, T
      Age and cause of death in mitochondrial diseases

      NEUROLOGY
    36. 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
    37. 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
    38. 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
    39. 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
    40. Taanman, JW
      The mitochondrial genome: structure, transcription, translation and replication

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

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

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    43. Kurogouchi, F; Oguchi, T; Mawatari, E; Yamaura, S; Hora, K; Takei, M; Sekijima, Y; Ikeda, S; Kiyosawa, K
      A case of mitochondrial cytopathy with a typical point mutation for MELAS,presenting with severe focal-segmental glomerulosclerosis as main clinicalmanifestation

      AMERICAN JOURNAL OF NEPHROLOGY
    44. WATANABE Y; HASHIKAWA K; MORIWAKI H; OKU N; SEIKE Y; KODAKA R; ONO J; UEHARA T; KUSUOKA H; NISHIMURA T
      SPECT FINDINGS IN MITOCHONDRIAL ENCEPHALOMYOPATHY

      The Journal of nuclear medicine
    45. OHKOSHI N; ISHII A; SHIRAIWA N; SHOJI S; YOSHIZAWA K
      DYSFUNCTION OF THE HYPOTHALAMIC-PITUITARY SYSTEM IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Journal of medicine
    46. Shimotake, T; Furukawa, T; Inoue, K; Iwai, N; Takeuchi, Y
      Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

      JOURNAL OF PEDIATRIC SURGERY
    47. THOMEER EC; VERHOEVEN WMA; VANDEVLASAKKER CJW; KLOMPENHOUWER JL
      PSYCHIATRIC-SYMPTOMS IN MELAS - A CASE-REPORT

      Journal of Neurology, Neurosurgery and Psychiatry
    48. SENECA S; LISSENS W; LIEBAERS I; VANDENBERGH P; NASSOGNE MC; BENATAR A; DEMEIRLEIR L
      PITFALLS IN THE DIAGNOSIS OF MTDNA MUTATIONS

      Journal of Medical Genetics
    49. DAMIAN MS; HERTEL A; SEIBEL P; REICHMANN H; BACHMANN G; SCHACHENMAYR W; HOER G; DORNDORF W
      FOLLOW-UP IN CARRIERS OF THE MELAS MUTATION WITHOUT STROKES

      European neurology
    50. DIMAURO S; BONILLA E; DAVIDSON M; HIRANO M; SCHON EA
      MITOCHONDRIA IN NEUROMUSCULAR DISORDERS

      Biochimica et biophysica acta. Bioenergetics
    51. KUROIWA T; KUWATA T; NAKAYAMA T; TAKEMURA T; SAKUTA M; ICHINOSE S; GOTO Y; OKEDA R
      MITOCHONDRIAL ENCEPHALOMYOPATHY SHOWING PROMINENT MICROVACUOLATION AND NECROSIS OF INTESTINAL SMOOTH-MUSCLE CELLS - A CASE DIAGNOSED BY RECTAL BIOPSY

      Acta Neuropathologica
    52. IHARA Y; KIBATA M; HAYABARA T; KATAYAMA S; KONISHI H; MIURA K; KOHNO M; KAWAI M; YOKOI I; MORI A
      FREE-RADICALS IN THE CEREBROSPINAL-FLUID ARE ASSOCIATED WITH NEUROLOGICAL DISORDERS INCLUDING MITOCHONDRIAL ENCEPHALOMYOPATHY

      Biochemistry and molecular biology international
    53. TANAKA J; NAGAI T; ARAI H; INUI K; YAMANOUCHI H; GOTO Y; NONAKA I; OKADA S
      TREATMENT OF MITOCHONDRIAL ENCEPHALOMYOPATHY WITH A COMBINATION OF CYTOCHROME-C AND VITAMINS B-1 AND B-2

      Brain & development
    54. LAM CW; LAU CH; WILLIAMS JC; CHAN YW; WONG LJC
      MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS) TRIGGERED BY VALPROATE THERAPY

      European journal of pediatrics
    55. SPERL W; SKLADAL D; GNAIGER E; WYSS M; MAYR U; HAGER J; GELLERICH FN
      HIGH-RESOLUTION RESPIROMETRY OF PERMEABILIZED SKELETAL-MUSCLE FIBERS IN THE DIAGNOSIS OF NEUROMUSCULAR DISORDERS

      Molecular and cellular biochemistry
    56. ELPELEG ON; SAADA AB; SHAAG A; GLUSTEIN JZ; RUITENBEEK W; TEIN I; HALEVY J
      LIPOAMIDE DEHYDROGENASE-DEFICIENCY - A NEW CAUSE FOR RECURRENT MYOGLOBINURIA

      Muscle & nerve
    57. BAULAC M; LABAUGE P; PELLISSIER JF
      EPILEPSY AND DEMENTIA IN A 15 YEAR-OLD WO MAN

      Revue neurologique
    58. MIYAMOTO A; OKI J; TAKAHASHI S; ITOH J; KUSUNOKI Y; CHO K
      SERIAL IMAGING IN MELAS

      Neuroradiology
    59. OHKOSHI N; MIZUSAWA H; FUJITA T; SHOJI S
      HISTOLOGICAL DETERMINATION OF NITRIC-OXIDE SYNTHASE (NOS) AND NADPH-DIAPHORASE IN RAGGED-RED FIBERS FROM PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Journal of the neurological sciences
    60. MOURMANS J; WENDEL U; BENTLAGE HACM; TRIJBELS JMF; SMEITINK JAM; DECOO IFM; GABREELS FJM; SENGERS RCA; RUITENBEEK W
      CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD

      Journal of the neurological sciences
    61. SUZUKI Y; GOTO Y; TANIYAMA M; NONAKA I; MURAKAMI N; HOSOKAWA K; ASAHINA T; ATSUMI Y; MATSUOKA K
      MUSCLE HISTOPATHOLOGY IN DIABETES-MELLITUS ASSOCIATED WITH MITOCHONDRIAL TRANSFER-RNA(LEU(UUR)) MUTATION AT POSITION-3243

      Journal of the neurological sciences
    62. LODI R; RINALDI R; GADDI A; LOTTI S; DALESSANDRO R; SCOZ N; BATTINO M; CARELLI V; AAZIMONDI G; ZANIOL P; BARBIROLI B
      BRAIN AND SKELETAL-MUSCLE BIOENERGETIC FAILURE IN FAMILIAL HYPOBETALIPOPROTEINEMIA

      Journal of Neurology, Neurosurgery and Psychiatry
    63. FUNAKAWA I; YASUDA T; TERAO A
      PERIODIC LATERALIZED EPILEPTIFORM DISCHARGES IN MITOCHONDRIAL ENCEPHALOMYOPATHY

      Electroencephalography and clinical neurophysiology
    64. OEXLE K; OBERLE J; FINCKH B; KOHLSCHUTTER A; NAGY M; SEIBEL P; SEISSLER J; HUBNER C
      ISLET-CELL ANTIBODIES IRM DIABETES-MELLITUS ASSOCIATED WITH A MITOCHONDRIAL TRNA(LEU(UUR)) GENE MUTATION

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    65. POSSEKEL S; MARSAC C; KADENBACH B
      BIOCHEMICAL-ANALYSIS OF FIBROBLASTS FROM PATIENTS WITH CYTOCHROME-C OXIDASE-ASSOCIATED LEIGH-SYNDROME

      Biochimica et biophysica acta. Molecular basis of disease
    66. NAKAGAWA E; OSARI S; YAMANOUCHI H; MATSUDA H; GOTO Y; NONAKA I
      LONG-TERM THERAPY WITH CYTOCHROME-C, FLAVIN MONONUCLEOTIDE AND THIAMINE DIPHOSPHATE FOR A PATIENT WITH KEARNS-SAYRE SYNDROME

      Brain & development
    67. PRANZATELLI MR; TATE E; GALVAN I; WHEELER A
      CONTROLLED TRIAL OF 5-HYDROXY-L-TRYPTOPHAN FOR ATAXIA IN PROGRESSIVE MYOCLONUS EPILEPSY

      Clinical neurology and neurosurgery
    68. MOCHIZUKI H; JOH K; KAWAME H; IMADACHI A; NOZAKI H; OHASHI T; USUI N; ETO Y; KANETSUNA Y; AIZAWA S
      MITOCHONDRIAL ENCEPHALOMYOPATHIES PRECEDED BY DE-TONI-DEBRE-FANCONI SYNDROME OR FOCAL SEGMENTAL GLOMERULOSCLEROSIS

      Clinical nephrology
    69. VALANNE L; PAETAU A; SUOMALAINEN A; KETONEN L; PIHKO H
      LAMINAR CORTICAL NECROSIS IN MELAS SYNDROME - MR AND NEUROPATHOLOGICAL OBSERVATIONS

      Neuropediatrics
    70. SCHAGGER H; BENTLAGE H; RUITENBEEK W; PFEIFFER K; ROTTER S; ROTHER C; BOTTCHERPURKL A; LODEMANN E
      ELECTROPHORETIC SEPARATION OF MULTIPROTEIN COMPLEXES FROM BLOOD-PLATELETS AND CELL-LINES - TECHNIQUE FOR THE ANALYSIS OF DISEASES WITH DEFECTS IN OXIDATIVE-PHOSPHORYLATION

      Electrophoresis
    71. KUNISHIGE M; MITSUI T; AKAIKE M; SHONO M; KAWAI H; SAITO S
      LOCALIZATION AND AMOUNT OF MYOGLOBIN AND MYOGLOBIN MESSENGER-RNA IN RAGGED-RED FIBER OF PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHY

      Muscle & nerve
    72. VANDERKNAAP MS; JAKOBS C; VALK J
      MAGNETIC-RESONANCE-IMAGING IN LACTIC-ACIDOSIS

      Journal of inherited metabolic disease
    73. KODAKA R; ITAGAKI Y; MATSUMOTO M; NAGAI T; OKADA S
      TRANSCRANIAL DOPPLER ULTRASONOGRAPHY STUDY OF CEREBROVASCULAR CO2 REACTIVITY IN MITOCHONDRIAL ENCEPHALOMYOPATHY

      Stroke
    74. PISANO P; DURAND A; AUTRET E; DESNUELLE C; PINSARD N; SERRATRICE G; LEGOUT V; JOUBERT M; BLIN O
      PLASMA-CONCENTRATIONS AND PHARMACOKINETICS OF IDEBENONE AND ITS METABOLITES FOLLOWING SINGLE AND REPEATED DOSES IN YOUNG-PATIENTS WITH MITOCHONDRIAL ENCEPHALOMYOPATHY

      European Journal of Clinical Pharmacology
    75. SHISHIDO F; UEMURA K; INUGAMI A; TOMURA N; HIGANO S; FUJITA H; SASAKI H; KANNO I; MURAKAMI M; WATAHIKI Y; NAGATA K
      CEREBRAL OXYGEN AND GLUCOSE-METABOLISM AND BLOOD-FLOW IN MITOCHONDRIAL ENCEPHALOMYOPATHY - A PET STUDY

      Neuroradiology
    76. CLARK JM; MARKS MP; ADALSTEINSSON E; SPIELMAN DM; SHUSTER D; HOROUPIAN D; ALBERS GW
      MELAS - CLINICAL AND PATHOLOGICAL CORRELATIONS WITH MRI, XENON CT, AND MR SPECTROSCOPY/

      Neurology
    77. MAJAMAA K; RUSANEN H; REMES AM; PYHTINEN J; HASSINEN IE
      INCREASE OF BLOOD NAD(+) AND ATTENUATION OF LACTACIDEMIA DURING NICOTINAMIDE TREATMENT OF A PATIENT WITH THE MELAS SYNDROME

      Life sciences
    78. YAMAMOTO M
      DID DE-NOVO MELAS COMMON MITOCHONDRIAL-DNA POINT MUTATION (MTDNA 3243, A-]G TRANSITION) OCCUR IN THE MOTHER OF A PROBAND OF A JAPANESE MELAS PEDIGREE

      Journal of the neurological sciences
    79. WALKER UA; COLLINS S; BYRNE E
      RESPIRATORY-CHAIN ENCEPHALOMYOPATHIES - A DIAGNOSTIC CLASSIFICATION

      European neurology
    80. VANDOMBURG PHMF; GABREELSFESTEN AAWM; GABREELS FJM; DECOO R; RUITENBEEK W; WESSELING P; TERLAAK H
      MITOCHONDRIAL CYTOPATHY PRESENTING AS HEREDITARY SENSORY NEUROPATHY WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, ATAXIA AND FATAL MYOCLONIC EPILEPTIC STATUS

      Brain
    81. LI JY; KONG KW; CHANG MH; CHEUNG SC; LEE HC; PANG CY; WEI YH
      MELAS SYNDROME-ASSOCIATED WITH A TANDEM DUPLICATION IN THE D-LOOP OF MITOCHONDRIAL-DNA

      Acta neurologica Scandinavica
    82. LAM CW; JAIN K; CHAN KY; SILVA DK; CHAN YW; WONG LJC
      DIAGNOSIS OF MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES IN A CHINESE FAMILY BY PCR RESTRICTION ENZYME ANALYSIS

      JCP. Clinical molecular pathology
    83. SHOFFNER JM; KAUFMAN A; KOONTZ D; KRAWIECKI N; SMITH E; TOPP M; WALLACE DC
      OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA

      Clinical neuroscience
    84. HOUSTEK J; KLEMENT P; HERMANSKA J; HOUSTKOVA H; HANSIKOVA H; VANDENBOGERT C; ZEMAN J
      ALTERED PROPERTIES OF MITOCHONDRIAL ATP-SYNTHASE IN PATIENTS WITH A T-]G MUTATION IN THE ATPASE 6(SUBUNIT A) GENE AT POSITION-8993 OF MTDNA

      Biochimica et biophysica acta. Molecular basis of disease
    85. HOLME E; TULINIUS MH; LARSSON NG; OLDFORS A
      INHERITANCE AND EXPRESSION OF MITOCHONDRIAL-DNA POINT MUTATIONS

      Biochimica et biophysica acta. Molecular basis of disease
    86. ITO J; TANAKA H; CHO K; KUSUNOKI Y; MIYAMOTO A; OKI J
      A PATIENT WITH MELAS AND ARTERIAL OCCLUSIVE FINDINGS ON CEREBRAL-ANGIOGRAPHY

      Journal of child neurology
    87. FUJII T; OKUNO T; ITO M; HATTORI H; MUTOH K; GO T; SHIRASAKA Y; SHIRAISHI H; IWASAKI Y; ASATO R
      I-123 IMP SPECT FINDINGS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Brain & development
    88. ZAFEIRIOU DI; KOLETZKO B; MUELLERFELBER W; PAETZKE I; KUEFFER G; JENSEN M
      DEFICIENCY IN COMPLEX-IV (CYTOCHROME-C-OXIDASE) OF THE RESPIRATORY-CHAIN, PRESENTING AS A LEUKODYSTROPHY IN 2 SIBLINGS WITH LEIGH-SYNDROME

      Brain & development
    89. 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
    90. KAWAI H; AKAIKE M; YOKOI K; NISHIDA Y; KUNISHIGE M; MINE H; SAITO S
      MITOCHONDRIAL ENCEPHALOMYOPATHY WITH AUTOSOMAL-DOMINANT INHERITANCE -A CLINICAL AND GENETIC ENTITY OF MITOCHONDRIAL DISEASES

      Muscle & nerve
    91. OHKOSHI N; MIZUSAWA H; SHIRAIWA N; SHOJI S; HARADA K; YOSHIZAWA K
      SUPEROXIDE DISMUTASES OF MUSCLE IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Muscle & nerve
    92. FUKUHARA N
      CLINICOPATHOLOGICAL FEATURES OF MERRF

      Muscle & nerve
    93. LARSSON NG; TULINIUS MH; HOLME E; OLDFORS A
      PATHOGENETIC ASPECTS OF THE A8344G MUTATION OF MITOCHONDRIAL-DNA ASSOCIATED WITH MERRF SYNDROME AND MULTIPLE SYMMETRICAL LIPOMAS

      Muscle & nerve
    94. KOSINSKI C; MULL M; LETHEN H; TOPPER R
      EVIDENCE FOR CARDIOEMBOLIC STROKE IN A CASE OF KEARNS-SAYRE SYNDROME

      Stroke
    95. KAIDO M; FUJIMURA H; TANIIKE M; YOSHIKAWA H; TOYOOKA K; YORIFUJI S; KOJI I; OKADA S; SPARACO M; YANAGIHARA T
      FOCAL CYTOCHROME-C-OXIDASE DEFICIENCY IN THE BRAIN AND DORSAL-ROOT GANGLIA IN A CASE WITH MITOCHONDRIAL ENCEPHALOMYOPATHY (TRNA(IIE)-4269 MUTATION) - HISTOCHEMICAL, IMMUNOHISTOCHEMICAL, AND ULTRASTRUCTURAL-STUDY

      Journal of the neurological sciences
    96. DONOVAN TJ
      MITOCHONDRIAL ENCEPHALOMYOPATHY - A RARE GENETIC CAUSE OF SENSORINEURAL HEARING-LOSS

      The Annals of otology, rhinology & laryngology
    97. OLDFORS A; HOLME E; TULINIUS M; LARSSON NG
      TISSUE DISTRIBUTION AND DISEASE MANIFESTATIONS OF THE TRNA(LYS) A-]G((8344)) MITOCHONDRIAL-DNA MUTATION IN A CASE OF MYOCLONUS EPILEPSY ANDRAGGED-RED FIBERS

      Acta Neuropathologica
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      EKBOMS SYNDROME OF PHOTOMYOCLONUS, CEREBELLAR-ATAXIA AND CERVICAL LIPOMA IS ASSOCIATED WITH THE TRNA(LYS) A8344G MUTATION IN MITOCHONDRIAL-DNA

      Acta neurologica Scandinavica
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      CLINICAL SPECTRUM OF THE MELAS MUTATION IN A LARGE PEDIGREE

      Acta neurologica Scandinavica
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      THE THERAPY OF RESPIRATORY-CHAIN ENCEPHALOMYOPATHY - A CRITICAL-REVIEW OF THE PAST AND CURRENT PERSPECTIVE

      Acta neurologica Scandinavica


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/08/20 alle ore 06:56:54