戻る
「早戻しボタン」を押すと検索画面に戻ります。

今後説明を表示しない

[OK]

コーパス検索結果 (left1)

通し番号をクリックするとPubMedの該当ページを表示します
1                                              Alpers' syndrome is a fatal neurogenetic disorder first
2                                              Alpers-Huttenlocher syndrome (AHS) an autosomal recessiv
3  found in patients suffering from aggressive Alpers syndrome to mild progressive external ophthalmopl
4  found in a patient with mtDNA depletion and Alpers' syndrome.
5 such as chronic external ophthalmoplegia and Alpers syndrome.
6 ndrial DNA (mtDNA) polymerase gamma, PEO and Alpers patients.
7 sociated with mitochondrial diseases such as Alpers syndrome and progressive external ophthalmoplegia
8 atal multisystem childhood diseases, such as Alpers syndrome, to milder diseases in adults, including
9 drial DNA polymerase gamma (polgamma), cause Alpers-Huttenlocher syndrome (AHS).
10  onset mitochondrial DNA depletion disorder, Alpers syndrome.
11 gion of pol gamma revealed a cluster of four Alpers mutations at highly conserved residues in the thu
12                               Twenty-one had Alpers syndrome, the commonest severe POLG1 autosomal re
13 ients with mitochondrial disorders including Alpers, progressive external ophthalmoplegia and ataxia-
14  range of mitochondrial disorders, including Alpers syndrome, juvenile spinocerebellar ataxia-epileps
15                In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry
16 ighly variable, ranging from childhood-onset Alpers-Huttenlocher syndrome to adult-onset sensory atax
17 cluding progressive external opthalmoplegia, Alpers syndrome, and parkinsonism.
18  progressive external ophthalmoplegia (PEO), Alpers syndrome and other neuromuscular and oxidative ph
19  progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia, neuropathy, dysarthria
20 itochondrial DNA (mtDNA) depletion syndrome, Alpers syndrome, and progressive external opthamalplegia
21 recombinant forms of pol gamma revealed that Alpers mutations in the thumb subdomain reduced polymera
22 2C, c.2554c-->t; R853Q, c.2558g-->a) and two Alpers mutations at less conserved positions in the adja
23 32)P-dTTP in fibroblasts from a patient with Alpers syndrome associated with the A467T substitution i

WebLSDに未収録の専門用語(用法)は "新規対訳" から投稿できます。