神経性薄弱運動失調網膜色素変性症
WordNet
- inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia
- any pathology of the peripheral nerves
- inflammation of the retina
PrepTutorEJDIC
- 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
- (次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)
UpToDate Contents
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English Journal
- Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mitochondrial dysfunction.
- Wojewoda M1, Walczak J2, Duszyński J3, Szczepanowska J4.
- Biochemical pharmacology.Biochem Pharmacol.2015 Jun 1;95(3):170-6. doi: 10.1016/j.bcp.2015.03.016. Epub 2015 Apr 8.
- Mitochondrial dysfunction and reactive oxygen species (ROS) induced oxidative damage are implicated in the pathogenesis of several human diseases. Based on our previous findings that ROS level was higher in human osteosarcoma cybrids--Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) and was reduce
- PMID 25862479
- Selective elimination of mitochondrial mutations in the germline by genome editing.
- Reddy P1, Ocampo A1, Suzuki K1, Luo J1, Bacman SR2, Williams SL2, Sugawara A1, Okamura D1, Tsunekawa Y3, Wu J1, Lam D1, Xiong X4, Montserrat N5, Esteban CR1, Liu GH6, Sancho-Martinez I1, Manau D7, Civico S7, Cardellach F8, Del Mar O'Callaghan M9, Campistol J9, Zhao H4, Campistol JM10, Moraes CT11, Izpisua Belmonte JC12.
- Cell.Cell.2015 Apr 23;161(3):459-69. doi: 10.1016/j.cell.2015.03.051.
- Mitochondrial diseases include a group of maternally inherited genetic disorders caused by mutations in mtDNA. In most of these patients, mutated mtDNA coexists with wild-type mtDNA, a situation known as mtDNA heteroplasmy. Here, we report on a strategy toward preventing germline transmission of mit
- PMID 25910206
- Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
- Shaibani A1, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M.
- The International journal of neuroscience.Int J Neurosci.2015 Jan;125(1):43-9. doi: 10.3109/00207454.2014.904858. Epub 2014 May 16.
- Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. Recently, mutations in the FLVCR1 gene were described in four families with this condition. We inv
- PMID 24628582
Related Links
- Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP ...
- ataxia dementia developmental delay hearing loss MTATP6 muscle weakness neuropathy night blindness optic atrophy retinitis pigmentosa seizures Resources GeneReviews – Mitochondrial DNA-Associated Leigh Syndrome ...
★リンクテーブル★
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- 英
- neuropathy,ataxia and retinitis pigmentosa, NARP
- 同
- ニューロパチー・運動失調症・網膜色素変性症、クイーンズスクエア病 Queens square disease、NARP syndrome NARP症候群
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ニューロパチー・運動失調症・網膜色素変性症 neuropathy,ataxia and retinitis pigmentosa
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ニューロパチー
- 同
- NARP