Results 191 to 200 of about 7,021 (220)
Some of the next articles are maybe not open access.
Molecular basis of facioscapulohumeral muscular dystrophy
Cellular and Molecular Life Sciences (CMLS), 2004Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4, located on chromosome 4q35.
TUPLER, Rossella, GABELLINI D.
openaire +4 more sources
Job perspectives in facioscapulohumeral muscular dystrophy
Disability and Rehabilitation, 1993The working career of 138 adult patients with autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) was studied using a mailing questionnaire. Of 126 patients with an occupational history, the average female and male working career was 15 to 30 years, respectively.
Wevers, C.W.J. +3 more
openaire +4 more sources
Facioscapulohumeral Muscular Dystrophy
American Journal of Physical Medicine & Rehabilitation, 1995Data were collected prospectively over a 10-yr period from 53 subjects with facioscapulohumeral muscular dystrophy (FSHD) to provide a profile of impairment and disability. Manual muscle testing (MMT) indicated greater involvement of proximal musculature, although a subgroup demonstrated early weakness of the ankle dorsiflexors.
Megan A. McCrory +6 more
openaire +3 more sources
Mobius Syndrome and Facioscapulohumeral Muscular Dystrophy
Archives of Neurology, 1971CONGENITAL facial diplegia, or Mobius syndrome, is usually considered to be a static disorder. Recently, however, there have been reports of myotonic dystrophy presenting with facial weakness in the newborn period. 1,2 ; some cases of Mobius syndrome may therefore be due to progressive disease.
Lewis P. Rowland, Peggy A. Hanson
openaire +3 more sources
Molecular genetics of facioscapulohumeral muscular dystrophy
Neuromuscular Disorders, 1993Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder. The disease affects specific muscles of the face, shoulder-girdle and upper arm. The biochemical defect underlying FSHD is unknown and there are no specific tests that are diagnostic of FSHD.
Marten H. Hofker +8 more
openaire +3 more sources
Genetic mapping of facioscapulohumeral muscular dystrophy
1993Facioscapulohumeral muscular dystrophy (FSHD) is a well described neuromuscular disorder with an autosomal dominant inheritance pattern. The molecular defect underlying FSHD is unknown and lack of biochemical and physiological markers precluded a reliable presymptomatic diagnosis. Therefore, chromosomal localization of the FSHD gene by linkage analysis
George W. Padberg +3 more
openaire +3 more sources
Tongue atrophy in facioscapulohumeral muscular dystrophy
Neurology, 2001Involvement of the lingual muscle is considered one of the exclusion criteria of facioscapulohumeral muscular dystrophy (FSHD). In a series of 151 Japanese patients with 4q35-FSHD, seven patients (4.6%) had tongue atrophy with abnormal MRI findings and typical myogenic patterns of electromyography.
T. Komori +6 more
openaire +3 more sources