Targeted exome sequencing of suspected mitochondrial disorders.
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TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complexMitochondrial disorders in children: toward development of small-molecule treatment strategiesGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesCRISPR/Cas9 and mitochondrial gene replacement therapy: promising techniques and ethical considerationsA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesNext generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseThe genetics of Leigh syndrome and its implications for clinical practice and risk managementTargeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.Understanding structure, function, and mutations in the mitochondrial ATP synthase.Whole exome sequencing of suspected mitochondrial patients in clinical practice.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneTranscriptome-wide co-expression analysis identifies LRRC2 as a novel mediator of mitochondrial and cardiac function.MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.Evaluation of the child with suspected mitochondrial liver diseaseMacrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeThe genetics and pathology of mitochondrial disease.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.Next-generation sequencing for mitochondrial disordersSyndromes associated with mitochondrial DNA depletion.MYC and mitochondrial biogenesis.Leigh syndrome: neuropathology and pathogenesis.Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.Mutations causing mitochondrial disease: What is new and what challenges remain?Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.A Next Generation Multiscale View of Inborn Errors of Metabolism.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.The clinical and genetic characteristics in children with mitochondrial disease in China.Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectCLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAsCardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
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Targeted exome sequencing of suspected mitochondrial disorders.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 April 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Targeted exome sequencing of suspected mitochondrial disorders.
@en
Targeted exome sequencing of suspected mitochondrial disorders.
@nl
type
label
Targeted exome sequencing of suspected mitochondrial disorders.
@en
Targeted exome sequencing of suspected mitochondrial disorders.
@nl
prefLabel
Targeted exome sequencing of suspected mitochondrial disorders.
@en
Targeted exome sequencing of suspected mitochondrial disorders.
@nl
P2093
P2860
P50
P1433
P1476
Targeted exome sequencing of suspected mitochondrial disorders.
@en
P2093
Brad A Chapman
Daniel S Lieber
David M Mueller
Katherine B Sims
Kristy Shanahan
Mark L Borowsky
Nancy G Slate
Nina B Gold
Sarah E Calvo
Shangtao Liu
P2860
P304
P356
10.1212/WNL.0B013E3182918C40
P407
P577
2013-04-17T00:00:00Z