Results 171 to 180 of about 188,742 (365)
HISTOCHEMISTRY OF MYELIN VI. SOLVENT ACTION OF ACETONE ON BRAIN AND OTHER LIPID-RICH TISSUES [PDF]
, 1968 C. W. M. Adams, O. B. Bayliss
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Myelin plasticity: sculpting circuits in learning and memory
Nature Reviews Neuroscience, 2020 Wendy Xin, J. Chan
semanticscholar +1 more source
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi +7 more
wiley +1 more source
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
The distribution of myelin on nerve fibres from pacinian corpuscles
, 1955 T. A. Quilliam, M. Sato
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FURTHER OBSERVATIONS ON THE STRUCTURE OF MYELIN SHEATHS IN THE CENTRAL NERVOUS SYSTEM [PDF]
, 1964 Alan Peters
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Myelin degeneration and diminished myelin renewal contribute to age-related deficits in memory
Nature Neuroscience, 2020 Fei Wang +10 more
semanticscholar +1 more source