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1 enetically-defined mitochondrial disease and progressive external ophthalmoplegia.
2 e underlying genetic defect in patients with progressive external ophthalmoplegia.
3 ring from aggressive Alpers syndrome to mild progressive external ophthalmoplegia.
4 ing for 30 years, followed by development of progressive external ophthalmoplegia.
5 ondrial diseases such as Alpers syndrome and progressive external ophthalmoplegia.
6 ldren and adults presented with myopathy and progressive external ophthalmoplegia.
7 r (AAC) are associated with certain types of progressive external ophthalmoplegia.
8 the genes responsible for autosomal dominant progressive external ophthalmoplegia.
9 to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia.
10 e early-onset parkinsonism in the absence of progressive external ophthalmoplegia.
11 s and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
12 s and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia.
13 er's hereditary optic neuropathy and chronic progressive external ophthalmoplegia.
14 s in this same gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multip
15 in the Ant1 isoform cause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyop
16 s in the human Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondr
18 th mitochondrial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropat
19 sis and avoid muscle biopsy in patients with progressive external ophthalmoplegia and peripheral neur
20 as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngea
21 that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with mul
22 tations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with mul
23 ge at disease onset, gender, family history, progressive external ophthalmoplegia at clinical present
24 or dysregulation of ANTs is associated with progressive external ophthalmoplegia, cardiomyopathy, no
25 talian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated
26 ns within ANT1 produce a syndrome of chronic progressive external ophthalmoplegia (CPEO) in humans.
28 uscle-restricted mtDNA deletions and chronic progressive external ophthalmoplegia (CPEO) plus syndrom
29 drome is a subgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorde
30 epilepsy with ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes,
32 ear clinical follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P
34 pinocerebellar ataxia-epilepsy syndrome, and progressive external ophthalmoplegia, each with vastly d
35 is were used to study 68 adult patients with progressive external ophthalmoplegia either with or with
36 ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third deca
37 disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal d
38 ypically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal d
39 ally found in cis in patients primarily with progressive external ophthalmoplegia generate T251I and
40 s associated with autosomal dominant chronic progressive external ophthalmoplegia have been described
41 h mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syn
42 in pol gamma causes the degenerative disease progressive external ophthalmoplegia in humans, and we s
44 the proband, including patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndr
45 utants analogous to human autosomal dominant progressive external ophthalmoplegia mutations shows dif
47 oculopharyngeal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy
48 majority of families with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutat
51 titution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other se
52 ciated with autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndr
53 variety of mitochondrial diseases including progressive external ophthalmoplegia (PEO), Alpers syndr
54 ause mitochondrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuro
55 a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily af
57 cessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropa
58 ive site of pol gamma results in early onset progressive external ophthalmoplegia, premature ovarian
59 ally developed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic
60 mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in
61 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA
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