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Literature DB >> 6243839

Nuclear inclusions in oculopharyngeal dystrophy.

Abstract

The ultrastructural examination of skeletal muscle biopsies of three typical cases of autosomal dominant inherited oculopharyngeal muscular dystrophy showed collections of tubular filaments (8.5 nm in diameter) within muscle fibre nuclei. These filaments appear to be a characteristic morphological feature of oculopharyngeal dystrophy.

Entities: Disease

Mesh：

Year: 1980 PMID： 6243839 DOI： 10.1007/bf00692226

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

4 in total

1. 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

2. [Study of the clinical anatomy of oculo-pharyngeal myopathy].

Authors: H X Man; J Mikol; A Guillard; G Boudin
Journal: Bull Soc Ophtalmol Fr Date: 1976-01

3. Oculopharyngeal muscular dystrophy. A case with abnormal mitochondria and "fingerprint" inclusions.

Authors: J Julien; C Vital; J M Vallat; M Vallat; M Le Blanc
Journal: J Neurol Sci Date: 1974-02 Impact factor: 3.181

4. [Cytochemical and ultrastructural characteristics of different types of extra-fusal skeletal muscle fibres (in man and certain mammals)].

Authors: M Fardeau
Journal: Ann Anat Pathol (Paris) Date: 1973 Jan-Mar

4 in total

45 in total

1. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.

Authors: Raffaele Dubbioso; Pasquale Moretta; Fiore Manganelli; Chiara Fiorillo; Rosa Iodice; Luigi Trojano; Lucio Santoro
Journal: J Neurol Date: 2011-09-29 Impact factor: 4.849

2. Polyalanine and polyserine frameshift products in Huntington's disease.

Authors: J E Davies; D C Rubinsztein
Journal: J Med Genet Date: 2006-06-26 Impact factor: 6.318

3. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).

Authors: K Borg; F M Tomé; L Edström
Journal: Acta Neuropathol Date: 1991 Impact factor: 17.088

4. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder.

Authors: V Li; J Hostein; N B Romero; C Marsac; P Mezin; R Bost; F Degoul; M Fardeau; J Fournet
Journal: Dig Dis Sci Date: 1992-03 Impact factor: 3.199

Nuclear inclusions in oculopharyngeal dystrophy.

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

2. [Study of the clinical anatomy of oculo-pharyngeal myopathy].

3. Oculopharyngeal muscular dystrophy. A case with abnormal mitochondria and "fingerprint" inclusions.

4. [Cytochemical and ultrastructural characteristics of different types of extra-fusal skeletal muscle fibres (in man and certain mammals)].

1. Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.

2. Polyalanine and polyserine frameshift products in Huntington's disease.

3. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).

4. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder.

5. No evidence for heterogeneity in oculopharyngeal muscular dystrophy.

Review 6. Implications of polyadenylation in health and disease.

7. Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy.

8. A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.

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

Review 10. Oculopharyngeal muscular dystrophy: a polyalanine myopathy.