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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

Related topics

Related topics

22 relations
AKR1B1 geneAR wt AlleleAtrophy, Muscular, SpinobulbarBulbar weakness

Papers overview

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Highly Cited
2010
Highly Cited
2010
Role of Pioglitazone with Metformin or Glimepiride on Oxidative Stress-induced Nuclear Damage and Reproductive Toxicity in Diabetic Rats.
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
Human multipotent adipose‐derived stem cells restore dystrophin expression of Duchenne skeletal‐muscle cells in vitro
Background information. DMD (Duchenne muscular dystrophy) is a devastating X‐linked disorder characterized by progressive muscle… 
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… 
Highly Cited
2000
Highly Cited
2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… 
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… 
Highly Cited
1992
Highly Cited
1992
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
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
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… 
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