Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome.

Literature DB >> 7149664

Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome.

D A Taylor, J E Carroll, M E Smith, M O Johnson, G P Johnston, M H Brooke.

Abstract

Entities: Disease

Mesh：

Year: 1982 PMID： 7149664 DOI： 10.1002/ana.410120414

Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422

Keyword Cloud
Cited

× No keyword cloud information.

10 in total

1. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Authors: E Boltshauser; W Lang; T Spillmann; E Hof
Journal: J Med Genet Date: 1989-02 Impact factor: 6.318

Review 2. Ophthalmic manifestations of inherited neurodegenerative disorders.

Authors: Hannah M Kersten; Richard H Roxburgh; Helen V Danesh-Meyer
Journal: Nat Rev Neurol Date: 2014-05-20 Impact factor: 42.937

3. A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Authors: F M Häfner; A A Salam; T E Linder; D Balmer; A Baumer; A A Schinzel; T Spillmann; S M Leal
Journal: Am J Hum Genet Date: 2000-03-17 Impact factor: 11.025

4. Hearing loss in facioscapulohumeral dystrophy.

Authors: T Voit; A Lamprecht; H G Lenard; H H Goebel
Journal: Eur J Pediatr Date: 1986-09 Impact factor: 3.183

5. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Authors: P E Jardine; M C Koch; P W Lunt; J Maynard; K D Bathke; P S Harper; M Upadhyaya
Journal: Arch Dis Child Date: 1994-09 Impact factor: 3.791

6. Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

Authors: Amanda M Rickard; Lisa M Petek; Daniel G Miller
Journal: Hum Mol Genet Date: 2015-08-05 Impact factor: 6.150

Facioscapulohumeral dystrophy associated with hearing loss and Coats syndrome.

1. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Review 2. Ophthalmic manifestations of inherited neurodegenerative disorders.

3. A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

4. Hearing loss in facioscapulohumeral dystrophy.

5. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

6. Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

7. Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy.

Review 8. Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature.

9. Advanced coats-like retinopathy as the initial presentation of Familial Retinal Arterial Macroaneurysms.

10. Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice.