WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.

Ito Y1, Inoue N2, Inoue YU3, Nakamura S4, Matsuda Y5, Inagaki M6, Ohkubo T7, Asami J8, Terakawa YW9, Kohsaka S10, Goto Y11, Akazawa C12, Inoue T13, Inoue K14.
Neurobiology of disease.Neurobiol Dis.2015 Aug;80:1-14. doi: 10.1016/j.nbd.2015.04.013. Epub 2015 May 7.
Distinct classes of SOX10 mutations result in peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, collectively known as PCWH. Meanwhile, SOX10 haploinsufficiency caused by allelic loss-of-function mutations leads to a milder non
PMID 25959061

Etiologic spectrum of biopsy-proven peripheral neuropathies in childhood from a resource-poor setting.

Krishnan P1, Mahadevan A2, Bindu PS1, Chickabasaviah YT2, Taly AB3.
Journal of child neurology.J Child Neurol.2015 May;30(6):707-15. doi: 10.1177/0883073814541467. Epub 2014 Jul 17.
There are only a few studies describing the etiologic spectrum of biopsy-proven peripheral neuropathies in children. This study reviewed the clinical, electrophysiological, and pathologic profile of 239 children (≤18 years of age) who have undergone nerve biopsy in a tertiary care centre for neuro
PMID 25038122

Deletion of mitochondrial anchoring protects dysmyelinating shiverer: implications for progressive MS.

Joshi DC1, Zhang CL1, Lin TM1, Gusain A2, Harris MG3, Tree E1, Yin Y1, Wu C1, Sheng ZH4, Dempsey RJ2, Fabry Z3, Chiu SY5.
The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2015 Apr 1;35(13):5293-306. doi: 10.1523/JNEUROSCI.3859-14.2015.
The demyelinating disease multiple sclerosis (MS) has an early inflammatory phase followed by an incurable progressive phase with subdued inflammation and poorly understood neurodegenerative mechanism. In this study, we identified various parallelisms between progressive MS and the dysmyelinating mo
PMID 25834054

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease : Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease