Literature DB >> 4163596

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics.

G M Shy, D H Silberberg, S H Appel, M M Mishkin, E H Godfrey.   

Abstract

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Year:  1967        PMID: 4163596     DOI: 10.1016/0002-9343(67)90015-0

Source DB:  PubMed          Journal:  Am J Med        ISSN: 0002-9343            Impact factor:   4.965


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  14 in total

Review 1.  Movement disorders in mitochondrial disease.

Authors:  Roula Ghaoui; Carolyn M Sue
Journal:  J Neurol       Date:  2018-01-06       Impact factor: 4.849

2.  [Mitochondrial anomalies with peculiar distribution in a muscular dystrophy with pelvic onset (author's transl)].

Authors:  H Carrier; A Garde; M Tommasi; N Kopp; J F Savet
Journal:  Acta Neuropathol       Date:  1974       Impact factor: 17.088

3.  [Opthalmoplegia externa progressiva. A clinical and morphological study (author's transl)].

Authors:  K L Birnberger; A Weindl; A Struppler; I Schinko; D Pongratz
Journal:  Z Neurol       Date:  1973-12-11

4.  Brain changes in heredopathia atactica polyneuritiformis (Refsum).

Authors:  H Solcher
Journal:  Acta Neuropathol       Date:  1973-03-30       Impact factor: 17.088

Review 5.  MELAS syndrome.

Authors:  S J Koga; M Hodges; C Markin; P Gorman
Journal:  West J Med       Date:  1995-10

6.  Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome.

Authors:  J T Flynn; B N Bachynski; M M Rodrigues; R G Curless; B Joshi
Journal:  Trans Am Ophthalmol Soc       Date:  1985

7.  Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Authors:  S Mita; B Schmidt; E A Schon; S DiMauro; E Bonilla
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

8.  "Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.

Authors:  A Harden; G Pampiglione; A Battaglia
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-07       Impact factor: 10.154

9.  Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome.

Authors:  F X Kleber; J W Park; G Hübner; A Johannes; D Pongratz; E König
Journal:  Klin Wochenschr       Date:  1987-05-15

10.  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
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