{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T00:50:15Z","timestamp":1726188615826},"reference-count":24,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1987,10,1]]},"DOI":"10.1136\/jnnp.50.10.1348","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:16:40Z","timestamp":1226351800000},"page":"1348-1352","source":"Crossref","is-referenced-by-count":7,"title":["Biochemical studies in mitochondrial encephalomyopathy."],"prefix":"10.1136","volume":"50","author":[{"given":"S","family":"Goda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Ishimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Kuroiwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Koike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Koike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Reichmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"364","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome associated with ragged-red fibers","volume":"14","author":"SG, I.Pavlakis; PC, Phillips; S, DiMauro; DC, DeVivo; LP, Rowland","year":"1983","unstructured":"I Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome associated with ragged-red fibers. Ann Neurol 1983;14:364-5.","journal-title":"Ann Neurol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1749-6632.1982.tb31199.x","article-title":"Biochemical properties of mammalian 2-oxo acid dehydrogenase multienzyme complexes and clinical relevancy with chronic lactic acidosis","volume":"378","author":"Koike, M.; Koike, K.","year":"1982","unstructured":"Koike M, Koike K. Biochemical properties of mammalian 2-oxo acid dehydrogenase multienzyme complexes and clinical relevancy with chronic lactic acidosis. Ann NY Acad Sci 1982;378: 225-35.","journal-title":"Ann NY Acad Sci"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1203\/00006450-197901000-00009","article-title":"Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency","volume":"13","author":"Atkin, B.M.; Utter, M.F.; Weinberg, M.B.","year":"1979","unstructured":"Atkin BM, Utter MF, Weinberg MB. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency. Pediatr Res 1979;13:38-43.","journal-title":"Pediatr Res"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1021\/bi00841a011","article-title":"Purification and comparative properties of human lactate dehydrogenase isozymes from uterus, uterine myoma and cervical cancer","volume":"7","author":"Okabe, K.; Hayakawa, T.; Hamada, M.; Koike, M.","year":"1968","unstructured":"Okabe K, Hayakawa T, Hamada M, Koike M. Purification and comparative properties of human lactate dehydrogenase isozymes from uterus, uterine myoma and cervical cancer. Biochemistry 1968;7:79-90.","journal-title":"Biochemistry"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1212\/WNL.35.6.802","article-title":"Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle","volume":"35","author":"Bresolin, N.; Zeviani, M.; Bonilla, E.","year":"1985","unstructured":"Bresolin N, Zeviani M, Bonilla E, et al. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology 1985;35:802-12.","journal-title":"Neurology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/mus.880080809","article-title":"Betaoxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency","volume":"8","author":"Trevisan, C.P.; Reichmann, H.; DeVivo, D.C.; DiMauro, S.","year":"1985","unstructured":"Trevisan CP, Reichmann H, DeVivo DC, DiMauro S. Betaoxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency. Muscle Nerve 1985;8:672-5.","journal-title":"Muscle Nerve"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ana.410010104","article-title":"Lumping or splitting? \"Ophthalmoplegia-plus\" or Kearns-Sayre syndrome?","volume":"1","author":"Berenberg, R.A.; Pellock, J.M.; DiMauro, S.","year":"1977","unstructured":"Berenberg RA, Pellock JM, DiMauro S, et al. Lumping or splitting? \"Ophthalmoplegia-plus\" or Kearns-Sayre syndrome? Ann Neurol 1977;1:37-54.","journal-title":"Ann Neurol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1001\/archopht.1958.00940080296016","article-title":"Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases","volume":"60","author":"Kearns, T.P.; Sayre, G.P.","year":"1958","unstructured":"Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958;60:280-9.","journal-title":"Arch Ophthalmol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/jnnp.44.1.79","article-title":"Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility. A variant of Ramsay-Hunt syndrome","volume":"44","author":"Fitzsimons, R.B.; Clifton-Bligh, P.; Wolfenden, W.H.","year":"1981","unstructured":"Fitzsimons RB, Clifton-Bligh P, Wolfenden WH. Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility. A variant of Ramsay-Hunt syndrome. J Neurol Neurosurg Psychiatry 1981;44:79-82.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_10","first-page":"117","article-title":"Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Lightand electron-microscopic studies of two cases","volume":"47","author":"Fukuhara, N.; Tokiguchi, S.; Shirakawa, K.; Tsubaki, T.","year":"1980","unstructured":"Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Lightand electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980;47:117-33.","journal-title":"and review of literature. J Neurol Sci"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/ana.410170602","article-title":"Mitochondrial myopathies","volume":"17","author":"DiMauro, S.; Bonilla, E.; Zeviani, M.; Nakagawa, M.; DeVivo, D.C.","year":"1985","unstructured":"DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. Mitochondrial myopathies. Ann Neurol 1985;17:521-38.","journal-title":"Ann Neurol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1212\/WNL.33.12.1619","article-title":"Mitochondrial myopathy and encephalopathy: three cases-a deficiency of NADH-CoQ dehydrogenase?","volume":"33","author":"Holliday, P.L.; Climie, A.R.W.; Gilroy, J.; Mahmud, M.Z.","year":"1983","unstructured":"Holliday PL, Climie ARW, Gilroy J, Mahmud MZ. Mitochondrial myopathy and encephalopathy: three cases-a deficiency of NADH-CoQ dehydrogenase? Neurology 1983;33:1619-22.","journal-title":"Neurology"},{"key":"ref_13","first-page":"553","article-title":"Mitochondrial encephalomyopathies. Biochemical studies in two cases revealing defects in the respiratory chain","volume":"105","author":"Morgan-Hughes, J.A.; Hayes, D.J.; Clark, J.B.","year":"1982","unstructured":"Morgan-Hughes JA, Hayes DJ, Clark JB, et al. Mitochondrial encephalomyopathies. Biochemical studies in two cases revealing defects in the respiratory chain. Brain 1982;105: 553-82.","journal-title":"Brain"},{"key":"ref_14","article-title":"Two cases of NADH-CoQ reductase deficiency: relationship to MELAS","author":"Kobayashi, M.; Morishita, H.; Sugiyama, N.","unstructured":"Kobayashi M, Morishita H, Sugiyama N, et al. Two cases of NADH-CoQ reductase deficiency: relationship to MELAS. Ann Neurol (in press)."},{"issue":"12","key":"ref_15","first-page":"68","article-title":"\"Megaconial\" mitochondria observed in a case of chronic polymyositis","volume":"1969","author":"Chou, S.M.","unstructured":"Chou SM. \"Megaconial\" mitochondria observed in a case of chronic polymyositis. Acta Neuropathol (Berl) 1969;12:68-89.","journal-title":"Acta Neuropathol (Berl)"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1001\/archneur.1966.00470120006002","article-title":"Hypothyroid myopathy. Clinical, electromyographical and ultrastructural observations","volume":"14","author":"Norris, F.H.; Panner, B.J.","year":"1966","unstructured":"Norris FH, Panner BJ. Hypothyroid myopathy. Clinical, electromyographical and ultrastructural observations. Arch Neurol 1966;14:574-89.","journal-title":"Arch Neurol"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1212\/WNL.18.8.785","article-title":"Crystals in muscle fibers in patients with diabetic amyotrophy and neuropathy","volume":"18","author":"Shafiq, S.A.; Milhorat, A.T.; Gorycki, M.A.","year":"1968","unstructured":"Shafiq SA, Milhorat AT, Gorycki MA. Crystals in muscle fibers in patients with diabetic amyotrophy and neuropathy. Neurology 1968;18:785-90.","journal-title":"Neurology"},{"key":"ref_18","first-page":"230","article-title":"Striated muscle ultrastructure in intermittent claudication","volume":"101","author":"Teravainen, H.; Makitie, J.","year":"1977","unstructured":"Teravainen H, Makitie J. Striated muscle ultrastructure in intermittent claudication. Arch Pathol Lab Med 1977;101:230-5.","journal-title":"Arch Pathol Lab Med"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/BF00442074","article-title":"Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis","volume":"139","author":"Kobayashi, Y.; Miyabayashi, S.; Takada, G.","year":"1982","unstructured":"Kobayashi Y, Miyabayashi S, Takada G, et al. Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis. Eur J Pediatr 1982;139:25-30.","journal-title":"Eur J Pediatr"},{"issue":"1","key":"ref_20","first-page":"95","article-title":"Cytochrome-c-oxidase deficiency: clinical and biochemical hetero-geneity","volume":"35","author":"Zeviani, M.; Moggio, M.; Bonilla, E.","year":"1985","unstructured":"Zeviani M, Moggio M, Bonilla E, et al. Cytochrome-c-oxidase deficiency: clinical and biochemical hetero-geneity. Neurology 1985;35(Suppl 1):95.","journal-title":"Neurology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1001\/archneur.1977.00500150066013","article-title":"Familial poliodystrophy, mitochondrial myopathy and lactate acidemia","volume":"34","author":"Hart, Z.H.; Chang, C.H.; Perrin, E.V.D.; Naerunjun, J.S.; Ayyar, R.","year":"1977","unstructured":"Hart ZH, Chang CH, Perrin EVD, Naerunjun JS, Ayyar R. Familial poliodystrophy, mitochondrial myopathy and lactate acidemia. Arch Neurol 1977;34:180-5.","journal-title":"Arch Neurol"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1212\/WNL.25.7.614","article-title":"Familial poliodystrophy, mitochondrial myopathy and lactate acidemia","volume":"25","author":"Shapira, Y.; Cederbaum, S.D.; Cancilla, P.A.; Nielsen, D.; Lippe, B.M.","year":"1975","unstructured":"Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM. Familial poliodystrophy, mitochondrial myopathy and lactate acidemia. Neurology 1975;25:614-21.","journal-title":"Neurology"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1212\/WNL.34.1.72","article-title":"Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions","volume":"34","author":"Kuriyama, M.; Umezaki, H.; Fukuda, Y.","year":"1984","unstructured":"Kuriyama M, Umezaki H, Fukuda Y, et al. Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. Neurology 1984;34:72-7.","journal-title":"Neurology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1212\/WNL.29.5.717","article-title":"Reversible alexia, mitochondrial myopathy and lactic acidemia","volume":"29","author":"Skoglund, R.R.","year":"1979","unstructured":"Skoglund RR. Reversible alexia, mitochondrial myopathy and lactic acidemia. Neurology 1979;29:717-20.","journal-title":"Neurology"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.50.10.1348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T04:15:47Z","timestamp":1601093747000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.50.10.1348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,10,1]]},"references-count":24,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1987,10,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.50.10.1348","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1987,10,1]]}}}