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Journal Abstract Search

133 related items for PubMed ID: 2072394

  • 1. Mitochondrial myopathy in Marinesco-Sjögren syndrome.
    Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI.
    J Ment Defic Res; 1991 Apr; 35 ( Pt 2)():154-9. PubMed ID: 2072394
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  • 4. Mitochondrial myopathy in six patients with Marinesco-Sjøgren syndrome.
    Borud O, Aasly J, Lindal S.
    Prog Clin Biol Res; 1989 Apr; 306():135-9. PubMed ID: 2740407
    [No Abstract] [Full Text] [Related]

  • 5. Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms.
    Borg K, Ahlberg G, Borg J, Edström L.
    J Neurol Neurosurg Psychiatry; 1991 Jun; 54(6):494-8. PubMed ID: 1652622
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  • 6. Neuroradiologic findings in Marinesco-Sjögren syndrome.
    Georgy BA, Snow RD, Brogdon BG, Wertelecki W.
    AJNR Am J Neuroradiol; 1998 Feb; 19(2):281-3. PubMed ID: 9504478
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  • 7. Nemaline myopathy and a mitochondrial neuromuscular disorder in one family.
    Shapira YA, Yarom R, Blank A.
    Neuropediatrics; 1981 May; 12(2):152-65. PubMed ID: 6267500
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  • 8. [Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
    Berio A, Piazzi A.
    Pediatr Med Chir; 1996 May; 18(1):99-103. PubMed ID: 8685033
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  • 9. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
    Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI.
    Neuropediatrics; 1994 Aug; 25(4):183-90. PubMed ID: 7824090
    [Abstract] [Full Text] [Related]

  • 10. [Morphological study of muscle fibers stained red by modified Gomori trichrome staining with special reference to smooth red fibers].
    Yoshida K.
    Hokkaido Igaku Zasshi; 1997 Mar; 72(2):163-80. PubMed ID: 9145310
    [Abstract] [Full Text] [Related]

  • 11. Muscle pathology in Marinesco-Sjögren syndrome.
    Komiyama A, Nonaka I, Hirayama K.
    J Neurol Sci; 1989 Jan; 89(1):103-13. PubMed ID: 2522540
    [Abstract] [Full Text] [Related]

  • 12. [Lactate and pyruvate blood levels in the diagnosis of mitochondrial myopathies].
    Zierz S, Meessen S, Jerusalem F.
    Nervenarzt; 1989 Sep; 60(9):545-8. PubMed ID: 2812158
    [No Abstract] [Full Text] [Related]

  • 13. Hypotonia in infancy.
    Dubowitz V.
    Acta Univ Carol Med Monogr; 1976 Sep; (75):13-8. PubMed ID: 1077757
    [No Abstract] [Full Text] [Related]

  • 14. A familial mitochondrial myopathy with central defect in neural transmission.
    Barron SA, Heffner RR, Zwirecki R.
    Arch Neurol; 1979 Sep; 36(9):553-6. PubMed ID: 224846
    [Abstract] [Full Text] [Related]

  • 15. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
    Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.
    Brain; 2013 Dec; 136(Pt 12):3634-44. PubMed ID: 24176978
    [Abstract] [Full Text] [Related]

  • 16. Mitochondrial oculoskeletal myopathy: case report.
    Colombo A, Merelli E, Sola P, Panzetti P, Quaglino D, Fornieri C.
    Ital J Neurol Sci; 1988 Aug; 9(4):385-9. PubMed ID: 2851565
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  • 17. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
    Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.
    Neurobiol Dis; 2019 Apr; 124():218-229. PubMed ID: 30468864
    [Abstract] [Full Text] [Related]

  • 18. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva.
    Zimmer C, Gosztonyi G, Cervos-Navarro J, von Moers A, Schröder JM.
    Neuropediatrics; 1992 Dec; 23(6):329-35. PubMed ID: 1491754
    [Abstract] [Full Text] [Related]

  • 19. [Mitochondrial encephalomyopathy: clinical aspects, CT morphology and neuropathology].
    Wessel K, Poremba M, Pfeiffer J, Roggendorf W.
    Fortschr Neurol Psychiatr; 1988 May; 56(5):154-62. PubMed ID: 3397029
    [Abstract] [Full Text] [Related]

  • 20. Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature.
    Sasaki K, Suga K, Tsugawa S, Sakuma K, Tachi N, Chiba S, Imamura S.
    Brain Dev; 1996 May; 18(1):64-7. PubMed ID: 8907346
    [Abstract] [Full Text] [Related]

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