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1 I trial of virus-based gene transfer in this mitochondrial disorder.
2 y optic neuropathy (LHON) is the most common mitochondrial disorder.
3 is and severe encephalopathy suggestive of a mitochondrial disorder.
4 e is consistent with clinical criteria for a mitochondrial disorder.
5 o effective treatment for these or any other mitochondrial disorder.
6 he mtDNA of a young woman with a multisystem mitochondrial disorder.
7 elevant for deletions observed in many human mitochondrial disorders.
8 mtDNA) deletions are associated with various mitochondrial disorders.
9 derangement and symptoms in mouse models of mitochondrial disorders.
10 t has dramatically improved the diagnosis of mitochondrial disorders.
11 tion and the tissue specificity seen in many mitochondrial disorders.
12 gnosis for four patients with three distinct mitochondrial disorders.
13 he diverse clinical spectrum of POLG-related mitochondrial disorders.
14 , which are features often observed in human mitochondrial disorders.
15 (CIV) assembly are a frequent cause of human mitochondrial disorders.
16 d neurologic manifestations typifying severe mitochondrial disorders.
17 model for understanding the pathogenesis of mitochondrial disorders.
18 G) have been shown to be a frequent cause of mitochondrial disorders.
19 n COX10 have been previously associated with mitochondrial disorders.
20 d, providing new candidate disease genes for mitochondrial disorders.
21 genetic approach to treat a number of human mitochondrial disorders.
22 pands the clinical and molecular spectrum of mitochondrial disorders.
23 mpact in the phenotype of many patients with mitochondrial disorders.
24 tools for genetic therapy of a sub-group of mitochondrial disorders.
25 ategy can be extended to correction of other mitochondrial disorders.
26 issues in a subset of patients with sporadic mitochondrial disorders.
27 actors which modulate clinical phenotypes in mitochondrial disorders.
28 in identifying pathogenic mutations causing mitochondrial disorders.
29 otor and sensory neuropathy (40/100,000) and mitochondrial disorders (9.2/100,000), the combined prev
31 DNA (mtDNA) deletions are a common cause of mitochondrial disorders and have been found to accumulat
32 region has been identified in patients with mitochondrial disorders and in a specific Caucasian hapl
33 o Cys mutation is encountered in humans with mitochondrial disorders and in Plasmodium species that a
34 external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated wit
35 appears to be a relatively common finding in mitochondrial disorders and is likely to benefit from ex
36 seful biomarker to detect redox imbalance in mitochondrial disorders and organic acidemias, thus prov
37 gnize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique fea
38 n's disease, and a number of ion channel and mitochondrial disorders, and a significant start has bee
40 because potential etiologic factors include mitochondrial disorders, and genetic studies if indicate
41 DNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated i
42 taric aciduria type I, urea cycle disorders, mitochondrial disorders, and lysosomal storage disorders
46 ommon neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy,
55 C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectr
56 e therapeutic potential for the treatment of mitochondrial disorders associated with heteroplasmic mt
57 COX18 is a new candidate when screening for mitochondrial disorders associated with isolated CIV def
58 n attractive system for genetic treatment of mitochondrial disorders associated with mitochondrial DN
59 ncy is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases r
60 s have been made in determining the cause of mitochondrial disorders, but the clinical ability to dia
61 cephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose
62 e cardiomyopathy of Barth syndrome (BTHS), a mitochondrial disorder caused by mutation of the gene en
63 hyperacetylation may be a common feature of mitochondrial disorders caused by respiratory chain defe
64 xternal ophthalmoplegia (PEO) is a heritable mitochondrial disorder characterized by the accumulation
65 leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype,
66 ial DNA (mtDNA) mutations cause a variety of mitochondrial disorders for which effective treatments a
67 r syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not onl
71 gamma) have been discovered in patients with mitochondrial disorders including Alpers, progressive ex
72 mutation is associated with a wide range of mitochondrial disorders, including Alpers syndrome, juve
73 ve diseases comes from similarities to known mitochondrial disorders, including delayed and variable
74 mma (Pol-gamma)) are associated with various mitochondrial disorders, including mitochondrial DNA (mt
77 we have identified candidate genes for eight mitochondrial disorders, leading to the discovery of mut
78 his first randomized controlled trial in the mitochondrial disorder, Leber's hereditary optic neuropa
80 a mechanism by which patients suffering from mitochondrial disorders may be more susceptible to renal
81 ed oxidative phosphorylation (OXPHOS) in two mitochondrial disorders, NARP (neuropathy, ataxia and re
82 ATP6 gene are known to cause several related mitochondrial disorders: NARP (neuropathy, ataxia, and r
83 d mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retiniti
84 tions in SCO1 and SCO2 associated with fatal mitochondrial disorders, one lies in a highly conserved
86 errors of OXPHOS function are termed primary mitochondrial disorders (PMDs), and the use of nutrition
87 drial biology and disease, and as a model of mitochondrial disorders potentially amenable to the deve
88 x I deficiency is the most commonly reported mitochondrial disorder presenting in childhood, but the
92 linked to multiple human diseases, including mitochondrial disorders, susceptibility to viral infecti
93 und in a group of 10 patients with a primary mitochondrial disorder that showed a normal proton efflu
94 therapeutic targets for two human hereditary mitochondrial disorders that reflect the ongoing effect
95 d disease progression are common features of mitochondrial disorders they carry substantial morbidity
97 lar, metabolic, inflammatory, dysimmune, and mitochondrial disorders were excluded and none had sever
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