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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesThe rise of mitochondria in medicineCerebral energy metabolism and the brain's functional network architecture: an integrative reviewMutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionToward a mtDNA locus-specific mutation database using the LOVD platformCardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.A diagnostic approach for cerebral palsy in the genomic era.Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.Haematological abnormalities in mitochondrial disorders.Treatment strategies for inherited optic neuropathies: past, present and futureRenal manifestations of primary mitochondrial disorders.Neuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice.Mitochondrial DNA deletions and depletion within paraspinal musclesMouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin miceCerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Mitochondrial replacement: from basic research to assisted reproductive technology portfolio tool-technicalities and possible risks.Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis.Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.Mitochondrial DNA disease: new options for prevention.Maternally inherited mitochondrial DNA disease in consanguineous families.Nuclear expression of mitochondrial ND4 leads to the protein assembling in complex I and prevents optic atrophy and visual loss.Photostimulation by femtosecond laser triggers restorable fragmentation in single mitochondrion.A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stressClinical features of MELAS and its relation with A3243G gene point mutationRecessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyMitochondrial disease: genetics and management.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Epilepsy in adults with mitochondrial disease: A cohort study.OXPHOS mutations and neurodegenerationNanotechnology inspired tools for mitochondrial dysfunction related diseases.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A neurological perspective on mitochondrial disease.
@en
A neurological perspective on mitochondrial disease.
@nl
type
label
A neurological perspective on mitochondrial disease.
@en
A neurological perspective on mitochondrial disease.
@nl
prefLabel
A neurological perspective on mitochondrial disease.
@en
A neurological perspective on mitochondrial disease.
@nl
P1433
P1476
A neurological perspective on mitochondrial disease
@en
P2093
Robert W Taylor
P304
P356
10.1016/S1474-4422(10)70116-2
P577
2010-08-01T00:00:00Z