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dystrophy

Known as: dystrophies 
a degenerative disorder
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
1992
1992
Polymorphous cutaneous cryptococcosis: nodular, herpes-like, and molluscum-like lesions in a patient with the acquired immunodeficiency syndrome.
1989
1989
Serial ultrastructural studies of scrapie in hamsters.
1987
1987
PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.
1983
1983
The contralateral eye in the iridocorneal endothelial (ICE) syndrome.
Highly Cited
1976
Highly Cited
1976
Biochemical abnormalities of erythrocyte membranes in Duchenne dystrophy. Adenosine triphosphatase and adenyl cyclase.
Adenosine triphosphatase (ATPase) activity in erythrocyte membranes from patients with Duchenne dystrophy was inhibited by… 
Highly Cited
1972
Highly Cited
1972
Myelinated nerve fibre counts in the nerves of normal and dystrophic mouse muscle.
1971
1971
Investigation into the structural integrity of lysosomes in the normal and dystrophic rat retina.
Highly Cited
1966
Highly Cited
1966
Asphyxiating thoracic dystrophy of the newborn.
Asphyxiating thoracic dystrophy is a rare and in most instances fatal osteochondrodystrophy affecting the bony thorax. Patients… 
Highly Cited
1964
Highly Cited
1964
MICROCYSTIC DYSTROPHY OF THE CORNEAL EPITHELIUM.
IN THE PRESENT PAPER we wish to document five cases illustrating a type of keratopathy which, because it occurs spontaneously and… 
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