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Bulbo-Spinal Atrophy, X-Linked

Known as: SMAX1, BULBOSPINAL MUSCULAR ATROPHY, X-LINKED, Spinal And Bulbar Muscular Atrophy, X Linked 1 
A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized… 
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
BACKGROUND Oxidative stress due to improper control of blood glucose in chronic diabetes plays a major role in the development of… 
Highly Cited
2008
Highly Cited
2008
Background information. DMD (Duchenne muscular dystrophy) is a devastating X‐linked disorder characterized by progressive muscle… 
2001
2001
The p16INK4a tumor suppressor gene can be inactivated by promoter region hypermethylation in many tumor types including gastric… 
Highly Cited
2000
Highly Cited
2000
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… 
1998
1998
BACKGROUND Coeliac disease may present with dyspepsia or reflux. There are characteristic duodenal appearances associated with… 
Highly Cited
1998
Highly Cited
1998
We present 3 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with extensive and diffuse… 
Highly Cited
1992
Highly Cited
1992
Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation… 
Highly Cited
1988
Highly Cited
1988
There was a significant reduction in body mass index (15%) and creatinine-height index (22%) in the chronic alcoholics with… 
1984
1984
SUMMARY Conventional mice and congenitally athymic, nude mice were infected with 20 metacercariae of the intestinal trematode… 
Review
1979
Review
1979
To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence…