Peripheral Neuropathy with Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA
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R. Artuch | M. Pineda | J. Montoya | A. Solano | P. Briones | A. Andreu | M. Vilaseca | J. Casademont | A. Playán | J. Colomer
[1] M. Taniyama,et al. Lipoma and sensory neuropathy in mitochondrial diabetes associated with tRNA mutation at position 3271. , 2002, Diabetes care.
[2] S. Dimauro,et al. G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid Lys Gene: Another Cause of Leigh Syndrome , 2000, Journal of child neurology.
[3] R. Artuch,et al. Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases. , 2000, Clinical biochemistry.
[4] A. Verbeek,et al. A Prognostic Index as Diagnostic Strategy in Children Suspected of Mitochondriocytopathy , 2000, Neuropediatrics.
[5] E Courchesne,et al. Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation , 2000, Journal of child neurology.
[6] A. Federico,et al. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family , 1999, Neurology.
[7] J. Pollard,et al. Peripheral Neuropathy in Childhood , 1999 .
[8] S. Dimauro,et al. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers , 1999, Neurology.
[9] C. Bruno,et al. Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA , 1998, Neurology.
[10] Yau-Huei Wei,et al. Peripheral neuropathy associated with mitochondrial myopathy , 1997, Neuromuscular Disorders.
[11] I. Nonaka,et al. Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families , 1997, Muscle & nerve.
[12] F. Gabreëls,et al. Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. , 1996, Brain : a journal of neurology.
[13] S. Dimauro,et al. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). , 1996, American journal of human genetics.
[14] S. Subramony. Topical Review: Clinical Aspects of Hereditary Ataxias , 1995 .
[15] R. Artuch,et al. Determination of lactate, pyruvate, beta-hydroxybutyrate and acetoacetate with a centrifugal analyser. , 1995, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.
[16] T. Bourgeron,et al. Biochemical and molecular investigations in respiratory chain deficiencies. , 1994, Clinica chimica acta; international journal of clinical chemistry.
[17] D. Turnbull,et al. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. , 1994, Biochemical medicine and metabolic biology.
[18] A. Harding,et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. , 1990, American journal of human genetics.
[19] J. Berden,et al. Differential investigation of the capacity of succinate oxidation in human skeletal muscle. , 1985, Clinica chimica acta; international journal of clinical chemistry.
[20] S. Subramony. Clinical aspects of hereditary ataxias. , 1995, Journal of child neurology.
[21] R. Artuch,et al. 遠心分離分析による乳酸,ピルビン酸,β‐ヒドロキシ酪酸,アセト酢酸の定量 , 1995 .
[22] Harding Ae. Clinical features and classification of inherited ataxias. , 1993, Advances in neurology.
[23] I. Kanazawa,et al. Peripheral neuropathy of mitochondrial myopathies. , 1991, Revue neurologique.