Literature DB >> 1219124

Autosomal recessive oculopharyngeal muscular dystrophy.

K Fried, A Arlozorov, R Spira.   

Abstract

Oculopharyngeal muscular dystrophy is known as a rare automsomal dominant disease. A family is reported suggesting that there may be genetic heterogeneity in oculopharyngeal muscular dystrophy and that in some families the mode of inheritance may be autosomal recessive.

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Year:  1975        PMID： 1219124      PMCID： PMC1013325          DOI： 10.1136/jmg.12.4.416

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  SPHINCTER INVOLVEMENT IN OCULAR MYOPATHY.

Authors:  R D TEASDALL; M M SCHUSTER; F B WALSH
Journal:  Arch Neurol       Date:  1964-05

2.  MUSCULAR DYSTROPHY. FEATURES OF OCULAR MYOPATHY, DISTAL MYOPATHY, AND MYOTONIC DYSTROPHY.

Authors:  D L SCHOTLAND; L P ROWLAND
Journal:  Arch Neurol       Date:  1964-05

3.  OCULAR MYOPATHY WITH DYSPHAGIA.

Authors:  G M BRAY; M KAARSOO; R T ROSS
Journal:  Neurology       Date:  1965-07       Impact factor: 9.910

4.  Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids.

Authors:  M VICTOR; R HAYES; R D ADAMS
Journal:  N Engl J Med       Date:  1962-12-20       Impact factor: 91.245

5.  Progressive dystrophy of the external ocular muscles (ocular myopathy).

Authors:  L G KILOH; S NEVIN
Journal:  Brain       Date:  1951       Impact factor: 13.501

6.  Data on the oculopharyngeal syndrome. A clinicopathological study.

Authors:  A Szobor
Journal:  Eur Neurol       Date:  1973       Impact factor: 1.710

7.  [Late hereditary oculopharyngeal myopathy].

Authors:  K Graf
Journal:  Pract Otorhinolaryngol (Basel)       Date:  1971

8.  Oculopharyngeal muscular dystrophy.

Authors:  J A Aarli
Journal:  Acta Neurol Scand       Date:  1969       Impact factor: 3.209

9.  Oculopharyngeal muscular dystrophy.

Authors:  V Penchaszadeh; R D Teasdall
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02
  9 in total
  4 in total

1.  Oculopharyngeal dystrophy diagnostic problems and possibilities.

Authors:  L A Bastiaensen; B P Schulte
Journal:  Doc Ophthalmol       Date:  1979-03-15       Impact factor: 2.379

2.  Oculopharyngeal dystrophy: ultrastructure of muscles distinct from the primary myopathy.

Authors:  J W Kozachek; F J Wilson
Journal:  Acta Neuropathol       Date:  1982       Impact factor: 17.088

3.  Oculopharyngeal muscular dystrophy in an Irish family.

Authors:  S Eustace; C Gleeson; M Joyce; P Sullivan
Journal:  Ir J Med Sci       Date:  1989-05       Impact factor: 1.568

4.  Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1).

Authors:  Reno Winter; Uwe Kühn; Gerd Hause; Elisabeth Schwarz
Journal:  J Biol Chem       Date:  2012-05-08       Impact factor: 5.157
  4 in total

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