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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
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A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized…
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National Institutes of Health
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Related topics
Related topics
22 relations
AKR1B1 gene
AR wt Allele
Atrophy, Muscular, Spinobulbar
Bulbar weakness
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
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.
S. Rabbani
,
K. Devi
,
S. Khanam
Malaysian Journal of Medical Sciences
2010
Corpus ID: 9979361
BACKGROUND Oxidative stress due to improper control of blood glucose in chronic diabetes plays a major role in the development of…
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Highly Cited
2008
Highly Cited
2008
Human multipotent adipose‐derived stem cells restore dystrophin expression of Duchenne skeletal‐muscle cells in vitro
N. Vieira
,
V. Brandalise
,
+6 authors
M. Zatz
Biology of the Cell
2008
Corpus ID: 1229971
Background information. DMD (Duchenne muscular dystrophy) is a devastating X‐linked disorder characterized by progressive muscle…
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2001
2001
p16INK4a Promoter hypermethylation of non‐tumorous tissue adjacent to gastric cancer is correlated with glandular atrophy and chronic inflammation
T. Jang
,
Dae-In Kim
,
Y. Shin
,
Hee-kyung Chang
,
C. Yang
2001
Corpus ID: 72499599
The p16INK4a tumor suppressor gene can be inactivated by promoter region hypermethylation in many tumor types including gastric…
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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.
Alain Verloes
,
S. Lesenfants
,
+5 authors
Elisabeth Roeder
American journal of medical genetics
2000
Corpus ID: 42028544
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial…
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1998
1998
Diagnosis of coeliac disease at open-access endoscopy.
W. Dickey
Scandinavian Journal of Gastroenterology
1998
Corpus ID: 36463560
BACKGROUND Coeliac disease may present with dyspepsia or reflux. There are characteristic duodenal appearances associated with…
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Highly Cited
1998
Highly Cited
1998
Chronic inflammatory demyelinating polyradiculoneuropathy with diffuse and massive peripheral nerve hypertrophy: Distinctive clinical and magnetic resonance imaging features
K. Mizuno
,
M. Nagamatsu
,
+4 authors
G. Sobue
Muscle and Nerve
1998
Corpus ID: 46679823
We present 3 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with extensive and diffuse…
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Highly Cited
1992
Highly Cited
1992
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
V. Biancalana
,
F. Serville
,
J. Pommier
,
J. Julien
,
A. Hanauer
,
J. Mandel
Human Molecular Genetics
1992
Corpus ID: 23038712
Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation…
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Highly Cited
1988
Highly Cited
1988
Nutritional status in alcoholics with and without chronic skeletal muscle myopathy.
P. Duane
,
T. Peters
Alcohol and Alcoholism
1988
Corpus ID: 22262240
There was a significant reduction in body mass index (15%) and creatinine-height index (22%) in the chronic alcoholics with…
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1984
1984
Thymus-independent crypt hyperplasia and villous atrophy in the small intestine of mice infected with the trematode Echinostoma revolutum
E. Bindseil
,
N. Christensen
Parasitology
1984
Corpus ID: 42331426
SUMMARY Conventional mice and congenitally athymic, nude mice were infected with 20 metacercariae of the intestinal trematode…
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Review
1979
Review
1979
Recurrence risks for congenital hydrocephalus
B. Burton
Clinical Genetics
1979
Corpus ID: 30165670
To assess the contribution of genetic factors to the etiology of congenital hydrocephalus and to establish empiric recurrence…
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