TY - JOUR
T1 - Biochemical Genetics of Neurologic Disease
AU - Rosenberg, R. N.
PY - 1981/11/12
Y1 - 1981/11/12
N2 - THERE have been major advances in the biochemical genetics of inherited neurologic disease during the past decade. The molecular basis for the pathogenesis of the sphingolipidoses,1 the mucopolysaccharidoses,2,3 the glycogenoses,4 and the hereditary aminoacidopathies5 represent the most notable achievements. Additional important new developments include the finding of biochemical defects in several inherited ataxias,6 7 8 9 linkage to the HLA complex in patients with multiple sclerosis and myasthenia gravis,10 11 12 and the identification of variation in clinical features and corresponding molecular defects due to allelic and nonallelic mutations.13,14 Reports on cell-surface-membrane and cytoskeletal defects in several major genetic disorders,15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 abnormalities in nerve-growth factor,33 34 35 and.
AB - THERE have been major advances in the biochemical genetics of inherited neurologic disease during the past decade. The molecular basis for the pathogenesis of the sphingolipidoses,1 the mucopolysaccharidoses,2,3 the glycogenoses,4 and the hereditary aminoacidopathies5 represent the most notable achievements. Additional important new developments include the finding of biochemical defects in several inherited ataxias,6 7 8 9 linkage to the HLA complex in patients with multiple sclerosis and myasthenia gravis,10 11 12 and the identification of variation in clinical features and corresponding molecular defects due to allelic and nonallelic mutations.13,14 Reports on cell-surface-membrane and cytoskeletal defects in several major genetic disorders,15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 abnormalities in nerve-growth factor,33 34 35 and.
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U2 - 10.1056/NEJM198111123052004
DO - 10.1056/NEJM198111123052004
M3 - Review article
C2 - 6793870
AN - SCOPUS:0019841588
SN - 0028-4793
VL - 305
SP - 1181
EP - 1193
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 20
ER -