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29. A founder mutation p.H701P identified as a major cause of SPG7 in Norway. Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429 [TBL] [Abstract][Full Text] [Related]
31. Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. Doriguzzi C; Palmucci L; Mongini T; Bresolin N; Bet L; Comi G; Lala R J Neurol Neurosurg Psychiatry; 1989 Jan; 52(1):122-5. PubMed ID: 2540284 [TBL] [Abstract][Full Text] [Related]
32. Familial case of May-Hegglin anomaly associated with familial spastic paraplegia. Fujita Y; Fujii T; Nishio A; Tuboi K; Tsuji K; Nakamura M Am J Hematol; 1990 Nov; 35(3):219-21. PubMed ID: 2171328 [TBL] [Abstract][Full Text] [Related]
33. A morphometric study of muscle mitochondria in cytochrome c oxidase deficiency. Chung S; Nonaka I J Neurol Sci; 1988 Feb; 83(2-3):269-82. PubMed ID: 2833575 [TBL] [Abstract][Full Text] [Related]
34. [Partial deficiency of cytochrome c oxidase in skeletal muscles; two cousins presenting progressive external ophthalmoplegia and proximal weakness of the limbs]. Madarame H; Nomura T; Chiba K; Niitsu M; Sano M; Tohgi H Nihon Naika Gakkai Zasshi; 1987 Mar; 76(3):414-20. PubMed ID: 3039025 [No Abstract] [Full Text] [Related]
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37. Myopathy in vitamin E deficient rats: muscle fibre necrosis associated with disturbances of mitochondrial function. Thomas PK; Cooper JM; King RH; Workman JM; Schapira AH; Goss-Sampson MA; Muller DP J Anat; 1993 Dec; 183 ( Pt 3)(Pt 3):451-61. PubMed ID: 8300427 [TBL] [Abstract][Full Text] [Related]
38. Molecular aspects of hereditary spastic paraplegia. Noreau A; Dion PA; Rouleau GA Exp Cell Res; 2014 Jul; 325(1):18-26. PubMed ID: 24631291 [TBL] [Abstract][Full Text] [Related]
39. Hereditary spastic paraplegia: report of two siblings. Yeh YC; Mak SC; Chi CS Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(2):112-5. PubMed ID: 9599901 [TBL] [Abstract][Full Text] [Related]
40. Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy. Miyabayashi S; Haginoya K; Hanamizu H; Iinuma K; Narisawa K; Tada K J Inherit Metab Dis; 1989; 12(3):373-7. PubMed ID: 2559247 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]