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1 inant-negative mechanism to cause this fatal mitochondrial disorder.
2 he mtDNA of a young woman with a multisystem mitochondrial disorder.
3 ted in a previously unresolved multisystemic mitochondrial disorder.
4 cy, a clinically heterogeneous multisystemic mitochondrial disorder.
5        T-tubule disorder was associated with mitochondrial disorder.
6 I trial of virus-based gene transfer in this mitochondrial disorder.
7 y optic neuropathy (LHON) is the most common mitochondrial disorder.
8 is and severe encephalopathy suggestive of a mitochondrial disorder.
9 e is consistent with clinical criteria for a mitochondrial disorder.
10 o effective treatment for these or any other mitochondrial disorder.
11 ct, common findings in neurodegenerative and mitochondrial disorders.
12              Currently, there is no cure for mitochondrial disorders.
13  tools for genetic therapy of a sub-group of mitochondrial disorders.
14 ategy can be extended to correction of other mitochondrial disorders.
15 issues in a subset of patients with sporadic mitochondrial disorders.
16 actors which modulate clinical phenotypes in mitochondrial disorders.
17  in identifying pathogenic mutations causing mitochondrial disorders.
18 ' CSF align this leukodystrophy with primary mitochondrial disorders.
19 n mitochondrial translation in patients with mitochondrial disorders.
20 ormations) syndrome, Alzheimer's disease and mitochondrial disorders.
21 inking PH with hyperglycinemic syndromes and mitochondrial disorders.
22 individuals of three pedigrees that suffered mitochondrial disorders.
23 e) show promise as therapeutic compounds for mitochondrial disorders.
24 ings suggest a potential strategy to prevent mitochondrial disorders.
25 thology in Leigh Syndrome and possibly other mitochondrial disorders.
26 sia, ischemia-reperfusion injury, aging, and mitochondrial disorders.
27 n of multiple deletions as observed in other mitochondrial disorders.
28 ions leading to drastic activity changes and mitochondrial disorders.
29  brain tissues of pediatric individuals with mitochondrial disorders.
30 function, which is associated with bona fide mitochondrial disorders.
31 (CIV) assembly are a frequent cause of human mitochondrial disorders.
32 pands the clinical and molecular spectrum of mitochondrial disorders.
33 elevant for deletions observed in many human mitochondrial disorders.
34 mtDNA) deletions are associated with various mitochondrial disorders.
35  derangement and symptoms in mouse models of mitochondrial disorders.
36 t has dramatically improved the diagnosis of mitochondrial disorders.
37 tion and the tissue specificity seen in many mitochondrial disorders.
38 gnosis for four patients with three distinct mitochondrial disorders.
39 gest a provocative strategy to treat primary mitochondrial disorders.
40 he diverse clinical spectrum of POLG-related mitochondrial disorders.
41 ers, including nuclear genes associated with mitochondrial disorders.
42 , which are features often observed in human mitochondrial disorders.
43 d neurologic manifestations typifying severe mitochondrial disorders.
44 novel approach for treating SLC25A46-related mitochondrial disorders.
45  model for understanding the pathogenesis of mitochondrial disorders.
46 G) have been shown to be a frequent cause of mitochondrial disorders.
47 n COX10 have been previously associated with mitochondrial disorders.
48 ons for the study and potential treatment of mitochondrial disorders.
49 d, providing new candidate disease genes for mitochondrial disorders.
50  genetic approach to treat a number of human mitochondrial disorders.
51 mpact in the phenotype of many patients with mitochondrial disorders.
52 opathies, inherited metabolic disorders, and mitochondrial disorders (48%, 47%, and 57%, respectively
53 intestinal defects observed in patients with mitochondrial disorders(5).
54  and cultured fibroblasts from patients with mitochondrial disorders(7).
55 otor and sensory neuropathy (40/100,000) and mitochondrial disorders (9.2/100,000), the combined prev
56 he SSBP1 gene have been linked to a range of mitochondrial disorders affecting nearly all organs and
57                                              Mitochondrial disorders affecting oxidative phosphorylat
58 cross-talk contribute to the pathobiology of mitochondrial disorders and aging.
59  that are efficacious toward a wide array of mitochondrial disorders and are believed to target mitoc
60 ide insights into pathologic AIF-variants in mitochondrial disorders and brain development.
61 ies have linked mtDNA Complex I mutations to mitochondrial disorders and cancer.
62  DNA (mtDNA) deletions are a common cause of mitochondrial disorders and have been found to accumulat
63 efects in mtDNA are implicated in a range of mitochondrial disorders and human diseases.
64  region has been identified in patients with mitochondrial disorders and in a specific Caucasian hapl
65 o Cys mutation is encountered in humans with mitochondrial disorders and in Plasmodium species that a
66                      Most diagnoses were non-mitochondrial disorders and included developmental disor
67 external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated wit
68 appears to be a relatively common finding in mitochondrial disorders and is likely to benefit from ex
69 on is perturbed by mutations linked to human mitochondrial disorders and is suggested to also undergo
70 seful biomarker to detect redox imbalance in mitochondrial disorders and organic acidemias, thus prov
71 gnize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique fea
72 n's disease, and a number of ion channel and mitochondrial disorders, and a significant start has bee
73 siology of diabetes, the metabolic syndrome, mitochondrial disorders, and cancer.
74  because potential etiologic factors include mitochondrial disorders, and genetic studies if indicate
75 DNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated i
76 taric aciduria type I, urea cycle disorders, mitochondrial disorders, and lysosomal storage disorders
77                     Both phenotypes resemble mitochondrial disorders, and mitochondrial dysfunction w
78                                              Mitochondrial disorders are a diverse group of debilitat
79                                              Mitochondrial disorders are among the most prevalent inb
80                      Effective therapies for mitochondrial disorders are beginning to translate from
81 ommon neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy,
82                                              Mitochondrial disorders are clinically and genetically d
83                                              Mitochondrial disorders are clinically and genetically h
84                                     Although mitochondrial disorders are clinically heterogeneous, th
85                                              Mitochondrial disorders are devastating genetic diseases
86                    The majority of inherited mitochondrial disorders are due to mutations not in the
87                                              Mitochondrial disorders are genetically determined metab
88                                      Primary mitochondrial disorders are most often caused by deleter
89                                Although many mitochondrial disorders are multisystemic, some are tiss
90           Several therapeutic strategies for mitochondrial disorders are now at a mature preclinical
91          Myopathologic changes that indicate mitochondrial disorders are often widespread in regions
92                                              Mitochondrial disorders are the result of nuclear and mi
93 ied a previously unreported genetic cause of mitochondrial disorder arising from the incompatibility
94     C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectr
95 e therapeutic potential for the treatment of mitochondrial disorders associated with heteroplasmic mt
96  COX18 is a new candidate when screening for mitochondrial disorders associated with isolated CIV def
97 n attractive system for genetic treatment of mitochondrial disorders associated with mitochondrial DN
98 r, and exercise might be beneficial for some mitochondrial disorders but contraindicated in others.
99 ncy is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases r
100 s have been made in determining the cause of mitochondrial disorders, but the clinical ability to dia
101 etiology of many diseases, including primary mitochondrial disorders, cancer, neurodegeneration and a
102 cephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose
103 e cardiomyopathy of Barth syndrome (BTHS), a mitochondrial disorder caused by mutation of the gene en
104 ally and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA mainten
105  hyperacetylation may be a common feature of mitochondrial disorders caused by respiratory chain defe
106        Barth syndrome (BTHS) is an inherited mitochondrial disorder characterized by a decrease in to
107 xternal ophthalmoplegia (PEO) is a heritable mitochondrial disorder characterized by the accumulation
108  inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized primarily by hearin
109   Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a
110 heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challen
111 ked to 3-methylglutaconic aciduria, a severe mitochondrial disorder, display diminished disaggregase
112  leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype,
113 ial DNA (mtDNA) mutations cause a variety of mitochondrial disorders for which effective treatments a
114 r syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not onl
115                                              Mitochondrial disorders have emerged as a common cause o
116                                              Mitochondrial disorders have emerged as a common cause o
117  factor (AIF) have a strong association with mitochondrial disorders; however, little is known about
118 n the view of HNF1B-related nephropathy as a mitochondrial disorder in adulthood.
119 nome transfer to prevent the transmission of mitochondrial disorders in humans.
120 gamma) have been discovered in patients with mitochondrial disorders including Alpers, progressive ex
121  mutation is associated with a wide range of mitochondrial disorders, including Alpers syndrome, juve
122 ve diseases comes from similarities to known mitochondrial disorders, including delayed and variable
123 mma (Pol-gamma)) are associated with various mitochondrial disorders, including mitochondrial DNA (mt
124                       Molecular diagnosis of mitochondrial disorders is challenging because of extrem
125                                 Treatment of mitochondrial disorders is currently inadequate, emphasi
126 we have identified candidate genes for eight mitochondrial disorders, leading to the discovery of mut
127 his first randomized controlled trial in the mitochondrial disorder, Leber's hereditary optic neuropa
128                                              Mitochondrial disorders may be caused by mutations eithe
129 a mechanism by which patients suffering from mitochondrial disorders may be more susceptible to renal
130 ed oxidative phosphorylation (OXPHOS) in two mitochondrial disorders, NARP (neuropathy, ataxia and re
131 ATP6 gene are known to cause several related mitochondrial disorders: NARP (neuropathy, ataxia, and r
132 is implicated in various diseases, including mitochondrial disorders, neurodegeneration, and diabetes
133 e range of human diseases, including primary mitochondrial disorders, neurodegeneration, cancer, and
134 d mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retiniti
135 tions in SCO1 and SCO2 associated with fatal mitochondrial disorders, one lies in a highly conserved
136 ly obtained blood samples from patients with mitochondrial disorders or organic acidemias.
137 errors of OXPHOS function are termed primary mitochondrial disorders (PMDs), and the use of nutrition
138 drial biology and disease, and as a model of mitochondrial disorders potentially amenable to the deve
139 x I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the
140                                              Mitochondrial disorders related to Charcot-Marie-Tooth d
141                          The pathogenesis of mitochondrial disorders relevant to neuro-ophthalmology
142                                   Diagnosing mitochondrial disorders remains challenging.
143 lying genetic basis for approximately 40% of mitochondrial disorders remains unresolved(5).
144                                              Mitochondrial disorders represent a large collection of
145                                              Mitochondrial disorders represent a multitude of clinica
146 es (MDDS) are rare, clinically heterogeneous mitochondrial disorders resulting from nuclear variants
147 linked to multiple human diseases, including mitochondrial disorders, susceptibility to viral infecti
148 eigh Syndrome French Canadian Type (LSFC), a mitochondrial disorder that includes diagnostic liver dy
149 und in a group of 10 patients with a primary mitochondrial disorder that showed a normal proton efflu
150 therapeutic targets for two human hereditary mitochondrial disorders that reflect the ongoing effect
151 h DdCBE is a promising gene therapy tool for mitochondrial disorders, the doses of the therapeutic co
152 d disease progression are common features of mitochondrial disorders they carry substantial morbidity
153  the most frequent nuclear encoded causes of mitochondrial disorders to date.
154 causes Leigh syndrome (LS, OMIM # 256000), a mitochondrial disorder typified by stress-induced metabo
155 opathies, inherited metabolic disorders, and mitochondrial disorders were diagnosed in neonatal/early
156 lar, metabolic, inflammatory, dysimmune, and mitochondrial disorders were excluded and none had sever
157                           The correlation of mitochondrial disorders with mutations in these enzymes
158 tions are the most common cause of inherited mitochondrial disorders, with as many as 2% of the popul
159 l diagnostic test in patients with suspected mitochondrial disorders, yielding a diagnosis in a furth

 
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