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PubMed Central is a free full-text archive of biomedical and life sciences journal literature at the U.S. National Institutes of Health's National Library of Medicine (NIH/NLM).

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by Savarese, Marco; Di Fruscio, Giuseppina; Mutarelli, Margherita; Torella, Annalaura; Magri, Francesca; Santorelli, Filippo Maria; Comi, Giacomo Pietro; Bruno, Claudio; Nigro, Vincenzo
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This article is from Acta Neuropathologica Communications , volume 2 . Abstract Mutations in ~100 genes cause muscle diseases with complex and often unexplained genotype/phenotype correlations. Next-generation sequencing studies identify a greater-than-expected number of genetic variations in the human genome. This suggests that existing clinical monogenic testing systematically miss very relevant information.We have created a core panel of genes that cause all known forms of nonsyndromic...
Topics: het, chrl, lgmd, variants, ttn, dna, sequencing, motorplex, samples, muscular, additional file,...
Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172906
PubMed Central
by Surgucheva, Irina; Newell, Kathy L; Burns, Jeffrey; Surguchov, Andrei
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This article is from Acta Neuropathologica Communications , volume 2 . Abstract Introduction: Several neurodegenerative diseases are classified as proteopathies as they are associated with the aggregation of misfolded proteins. Synucleinopathies are a group of neurodegenerative disorders associated with abnormal deposition of synucleins. α-Synucleinopathies include Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy. Recently accumulation of another member of the...
Topics: astrocytes, antibodies, antibody, lewy, substantia, brain, amygdala, surgucheva, nigra, dlb,...
Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172890
PubMed Central
by Ota, Kiyobumi; Obayashi, Masato; Ozaki, Kokoro; Ichinose, Shizuko; Kakita, Akiyoshi; Tada, Mari; Takahashi, Hitoshi; Ando, Noboru; Eishi, Yoshinobu; Mizusawa, Hidehiro; Ishikawa, Kinya
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This article is from Acta Neuropathologica Communications , volume 2 . Abstract p25α/tubulin polymerization promoting protein (TPPP) is an oligodendroglial protein that plays crucial roles including myelination, and the stabilization of microtubules. In multiple system atrophy (MSA), TPPP is suggested to relocate from the myelin sheath to the oligodendroglial cell body, before the formation of glial cytoplasmic inclusions (GCIs), the pathologic hallmark of MSA. However, much is left unknown...
Topics: tppp, oligodendroglia, mitochondrial, msa, oligodendroglial, nuclear, cytoplasm, protein, nucleus,...
Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172786