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Treatment for mitochondrial disordersTwinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stallingPronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseMitochondrial gene replacement in primate offspring and embryonic stem cells.Age-associated mosaic respiratory chain deficiency causes trans-neuronal degenerationPrevalence of neurogenetic disorders in the North of EnglandResources, challenges and way forward in rare mitochondrial diseases researchSleep disorders associated with primary mitochondrial diseasesMitochondrial geneticsMitochondrial disorders: challenges in diagnosis & treatmentBiochemical diagnosis of mitochondrial disordersCRISPR/Cas9 and mitochondrial gene replacement therapy: promising techniques and ethical considerationsPrimary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentThe arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesisStructure of the large ribosomal subunit from human mitochondria.Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesmTERF2 regulates oxidative phosphorylation by modulating mtDNA transcriptionToward a mtDNA locus-specific mutation database using the LOVD platformHistorical perspective on mitochondrial medicineA mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.The egg. The inside story of a cell.Coenzyme Q10 and Neurological Diseases.Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.Mitochondrial DNA mutations affect calcium handling in differentiated neurons.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man.Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.The Genetic Challenges and Opportunities in Advanced Heart FailurePrevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutationHeterogeneous patterns of tissue injury in NARP syndromeNeuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice.Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization.Endurance exercise is protective for mice with mitochondrial myopathy.Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial DisordersExtensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals.Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.Towards germline gene therapy of inherited mitochondrial diseases.
P2860
Q24200432-87153C80-DFC2-4453-AC2F-35E577B4C352Q24310134-04D7C68D-E07B-4ED2-BD09-5B6FEBEF6FA6Q24607578-7FD4700C-2DA1-4AB8-BC6A-5B6E0B9EB978Q24643001-3B4466F9-3035-400F-A22C-F6792AA22EB3Q24646438-CC778AA2-56A4-4F54-AF1B-14B0581D0B8AQ26784050-76FE58A3-FBC2-4A2E-9C8F-3DFEC8A9CC30Q26800675-5DA67180-8174-4C55-8845-27078F469548Q26825142-06AE3031-0C87-481E-8F15-A99536B11FB0Q26849285-795CD544-D670-428B-A17E-A1581163CA11Q27000484-F8FA792E-D8BF-4B02-9ECB-5C01FA969A8DQ27990527-DDDED4E3-556C-4915-A61F-053233E1787FQ28073860-7F299B34-C73C-4312-910B-43AC850A8AFEQ28078384-B548E678-3326-43BD-9EF3-AC53025CE35DQ28115372-575808A0-91C9-4729-B1DD-9060423D0D38Q28116177-29404AFD-79C5-4216-B4FD-5D88CD8195ADQ28387241-5657D4F0-EE2F-4AD5-BC7D-FABB0FFF3720Q28512464-3226EB14-B224-455A-BC6B-A248CA15690EQ28649774-9476538D-6A91-4E83-81B2-10FA1A5A6A80Q28661465-F97A73C5-F87A-48E2-AB0C-4F897B5980BEQ29465776-FEA066D8-AB29-4EA5-A95D-AA1BF725E59EQ30317465-FC83C943-88A8-4762-B3E6-C5B149CC8F94Q30431119-081C781E-DAC0-4416-A8A8-DB71D33136D1Q30440307-20AFCD47-B6FE-43C6-9771-D7DE0503D3EEQ30459704-96FB2F40-2664-4246-BA2B-8A192FDFFBEEQ30493814-90F9EE88-8C65-489E-ABEA-57C93F6BFC63Q30567357-AAFD11AB-352F-46BF-A16C-4812A34C89BDQ33571732-D3598337-BB59-4E00-A6C2-F8323DC2C272Q33636528-88E2FF47-EA67-41BE-8C0C-325943F64469Q33653498-5EC2753E-2A7A-4A2E-B3C0-6C0890701880Q33685609-93670AF4-5C8E-49A3-8CFA-05C630BDA71DQ33719220-F41998EC-A318-45C6-A451-8618E60982ABQ33720822-8AB74BF6-E2A5-41C0-A480-3836D0FD479FQ33724242-DBD2E26D-A5DD-48AD-A79A-84C4CB8F87E6Q33742421-DD1C0008-80EA-4E3E-BCF1-9648FC91E7CAQ33783130-79086D54-4585-49D4-81EE-4EDA96D5932AQ33816784-AE714482-0610-4F63-BD98-49693BBFDC4DQ33832704-1396C680-C622-44FB-A218-240C3EA76C7CQ33971959-EE192C5D-6098-42D0-B9AF-CC8FF9BA5E4AQ33994118-E4E9B552-6144-4DE1-AFB1-CF10A1FBE84AQ34034145-0F54359E-244F-4408-8CC3-BA86DF3D816F
P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Prevalence of mitochondrial DNA disease in adults.
@ast
Prevalence of mitochondrial DNA disease in adults.
@en
Prevalence of mitochondrial DNA disease in adults.
@nl
type
label
Prevalence of mitochondrial DNA disease in adults.
@ast
Prevalence of mitochondrial DNA disease in adults.
@en
Prevalence of mitochondrial DNA disease in adults.
@nl
prefLabel
Prevalence of mitochondrial DNA disease in adults.
@ast
Prevalence of mitochondrial DNA disease in adults.
@en
Prevalence of mitochondrial DNA disease in adults.
@nl
P2093
P356
P1433
P1476
Prevalence of mitochondrial DNA disease in adults.
@en
P2093
Andrew M Schaefer
Douglass M Turnbull
Langping He
Robert McFarland
Robert W Taylor
Roger G Whittaker
P356
10.1002/ANA.21217
P577
2008-01-01T00:00:00Z