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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

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22 relations
AKR1B1 geneAR wt AlleleAtrophy, Muscular, SpinobulbarBulbar weakness

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2001
2001
p16INK4a Promoter hypermethylation of non‐tumorous tissue adjacent to gastric cancer is correlated with glandular atrophy and chronic inflammation
The p16INK4a tumor suppressor gene can be inactivated by promoter region hypermethylation in many tumor types including gastric… 
1998
1998
Diagnosis of coeliac disease at open-access endoscopy.
BACKGROUND Coeliac disease may present with dyspepsia or reflux. There are characteristic duodenal appearances associated with… 
Highly Cited
1998
Highly Cited
1998
Chronic inflammatory demyelinating polyradiculoneuropathy with diffuse and massive peripheral nerve hypertrophy: Distinctive clinical and magnetic resonance imaging features
We present 3 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with extensive and diffuse… 
1998
1998
A prospective endoscopic study of scalloped folds and grooves in the mucosa of the duodenum as signs of villous atrophy.
1995
1995
Two sisters with Escobar syndrome.
We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia… 
Highly Cited
1988
Highly Cited
1988
Nutritional status in alcoholics with and without chronic skeletal muscle myopathy.
There was a significant reduction in body mass index (15%) and creatinine-height index (22%) in the chronic alcoholics with… 
1984
1984
Thymus-independent crypt hyperplasia and villous atrophy in the small intestine of mice infected with the trematode Echinostoma revolutum
SUMMARY Conventional mice and congenitally athymic, nude mice were infected with 20 metacercariae of the intestinal trematode… 
Review
1979
Review
1979
Recurrence risks for congenital hydrocephalus
To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence… 
1972
1972
Strial atrophy in clinical and experimental deafness.
1951
1951
VULVAL ATROPHY AND LEUKOPLAKIA.
THE observations and conclusions in this j^aper are based on the examination of one hundred patients referred to us over the past… 
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