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15 in total

1. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

Authors: H Endo; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

2. Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification.

Authors: L Ho; C W Hu; S Packman; M S Patel
Journal: J Clin Invest Date: 1986-09 Impact factor: 14.808

3. Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.

Authors: H Endo; S Miyabayashi; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

Review 4. Mitochondrial myopathies. Clinical, morphological and biochemical aspects.

Authors: R C Sengers; A M Stadhouders; J M Trijbels
Journal: Eur J Pediatr Date: 1984-02 Impact factor: 3.183

Review 5. Pathogenesis of diencephalic lesions in an experimental model of Wernicke's encephalopathy.

Authors: P J Langlais
Journal: Metab Brain Dis Date: 1995-03 Impact factor: 3.584

6. Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.

Authors: G Uziel; E Bottacchi; G Moschen; P Giovanardi-Rossi; G Cardace; S Di Donato
Journal: Ital J Neurol Sci Date: 1982-12

7. Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Authors: A Michotte; L De Meirleir; W Lissens; R Denis; J L Wayenberg; I Liebaers; J M Brucher
Journal: Acta Neuropathol Date: 1993 Impact factor: 17.088

8. Depletion of brain histamine produces regionally selective protection against thiamine deficiency-induced lesions in the rat.

Authors: Philip J Langlais; Robert Carter McRee; Julia A Nalwalk; Lindsay B Hough
Journal: Metab Brain Dis Date: 2002-09 Impact factor: 3.584

9. Ophthalmoplegia plus. A multisystem disorder of unknown etiopathogenesis.

Authors: G Pellegrini; G Valli; P Sergi; M Moggio; G Scarlato
Journal: Ital J Neurol Sci Date: 1980-03

10. The influence of physostigmine on visual-vestibular interaction in hereditary ataxias.

Authors: C C Tijssen; L J Endtz; C Goor
Journal: J Neurol Neurosurg Psychiatry Date: 1985-10 Impact factor: 10.154