遺伝性多発性神経障害
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English Journal
- Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.
- Peddareddygari LR1, Hanna PA2, Igo RP Jr3, Luo YA3,4, Won S3,5, Hirano M6, Grewal RP7.
- The International journal of neuroscience.Int J Neurosci.2016 Jul;126(7):600-6. doi: 10.3109/00207454.2015.1048805. Epub 2015 Aug 17.
- AIM: Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. At present, 19 autosomal dominant loci for HSP have been mapped. We ascertained an American family of European descent segregating an autosomal dominant HSP associated with peripheral neuropat
- PMID 26000935
- Comparison of capillary electrophoresis and capillary liquid chromatography coupled to mass spectrometry for the analysis of transthyretin in human serum.
- Pont L1, Poturcu K2, Benavente F1, Barbosa J1, Sanz-Nebot V3.
- Journal of chromatography. A.J Chromatogr A.2016 Apr 29;1444:145-53. doi: 10.1016/j.chroma.2016.03.052. Epub 2016 Mar 24.
- Capillary electrophoresis and capillary liquid chromatography coupled to mass spectrometry (CE-MS and CapLC-MS, respectively) are nowadays very suitable techniques for the separation and characterization of intact proteins in biological fluids. In this paper, we compare the performance of both techn
- PMID 27052822
- Neuromuscular Ultrasound in the Assessment of Polyneuropathies and Motor Neuron Disease.
- Shen J1, Cartwright MS.
- Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.J Clin Neurophysiol.2016 Apr;33(2):86-93. doi: 10.1097/WNP.0000000000000241.
- Neuromuscular ultrasound is an emerging technology for the evaluation of conditions affecting nerve and muscle, with most of the research focusing on focal neuropathies. Despite this focus, researchers have also investigated the ultrasonographic changes that occur in the nerves and muscles of those
- PMID 27035248
Japanese Journal
- 遺伝性アミロイドニューロパチーの多様性と診断・治療のポイント
- Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
- 信州大学医学部附属病院遺伝子診療部における遺伝性神経筋疾患の発症前診断の現状
Related Links
- Hereditary polyneuropathy (HN) Disease Hereditary polyneuropathy causes undersupply of the peripheric nervous system followed by nerve degeneration. Due to the lack of nervous stimulation the muscles degrade gradually. The ...
- Summary of "Hereditary polyneuropathy in the Alaskan Malamute." Objective: To prove the hypothesis that a polyneuropathy in Alaskan Malamutes has a genetic background. Material and methods: Pedigrees of 131 related Alaskan ...
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- 同
- hereditary polyneuropathy
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- 関
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited