INFORMAZIONI SU QUESTO ARTICOLO

Cita

Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015; 77(5): 753–759. GormanGS SchaeferAM NgY GomezN BlakelyEL AlstonCL Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Ann Neurol 2015 77 5 753 759 10.1002/ana.24362473712125652200 Search in Google Scholar

Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol. 2001; 49(3): 377–383. DarinN OldforsA MoslemiAR HolmeE TuliniusM The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities Ann Neurol 2001 49 3 377 383 10.1002/ana.75 Search in Google Scholar

Raymond FL, Horvath R, Chinnery PF. First-line genomic diagnosis of mitochondrial disorders. Nat Rev Genet. 2018; 19(7): 399–400. RaymondFL HorvathR ChinneryPF First-line genomic diagnosis of mitochondrial disorders Nat Rev Genet 2018 19 7 399 400 10.1038/s41576-018-0022-129789687 Search in Google Scholar

Picard M, Wallace DC, Burelle Y. The rise of mitochondria in medicine. Mitochondrion. 2016; 30: 105–116. PicardM WallaceDC BurelleY The rise of mitochondria in medicine Mitochondrion 2016 30 105 116 10.1016/j.mito.2016.07.003502348027423788 Search in Google Scholar

Wallace DC. Mitochondrial genetic medicine. Nat Genet. 2018; 50(12): 1642–1649. WallaceDC Mitochondrial genetic medicine Nat Genet 2018 50 12 1642 1649 10.1038/s41588-018-0264-z30374071 Search in Google Scholar

Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006; 67(10): 1823–1826. MoravaE van den HeuvelL HolF de VriesMC HogeveenM RodenburgRJ Mitochondrial disease criteria: diagnostic applications in children Neurology 2006 67 10 1823 1826 10.1212/01.wnl.0000244435.27645.5417130416 Search in Google Scholar

Wolf NI, Smeitink JA. Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children. Neurology. 2002; 59(9): 1402–1405. WolfNI SmeitinkJA Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children Neurology 2002 59 9 1402 1405 10.1212/01.WNL.0000031795.91814.D812427891 Search in Google Scholar

Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018; 20(4): 444–451. WittersP SaadaA HonzikT TesarovaM KleinleS HorvathR Revisiting mitochondrial diagnostic criteria in the new era of genomics Genet Med 2018 20 4 444 451 10.1038/gim.2017.12529261183 Search in Google Scholar

Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era. Neuropediatrics. 2017; 48(4): 309–314. WortmannSB MayrJA NuofferJM ProkischH SperlW A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era Neuropediatrics 2017 48 4 309 314 10.1055/s-0037-160377628599323 Search in Google Scholar

Hui J, Kirby DM, Thorburn DR, Boneh A. Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases. Dev Med Child Neurol. 2006; 48(2): 132–136. HuiJ KirbyDM ThorburnDR BonehA Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases Dev Med Child Neurol 2006 48 2 132 136 10.1017/S001216220600028416417669 Search in Google Scholar

Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004; 1659(2–3): 136–147. BugianiM InvernizziF AlberioS BriemE LamanteaE CarraraF Clinical and molecular findings in children with complex I deficiency Biochim Biophys Acta 2004 1659 2–3 136 147 10.1016/j.bbabio.2004.09.00615576045 Search in Google Scholar

Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, et al. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013; 5(175): 175ra31. FerrieroR MancoG LamanteaE NuscoE FerranteMI SordinoP Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis Sci Transl Med 2013 5 175 175ra31 10.1126/scitranslmed.3004986410292423467562 Search in Google Scholar

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011; 43(5): 491–498. DePristoMA BanksE PoplinR GarimellaKV MaguireJR HartlC A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat Genet 2011 43 5 491 498 10.1038/ng.806308346321478889 Search in Google Scholar

Fouts DE, Pieper R, Szpakowski S, Pohl H, Knoblach S, Suh MJ, et al. Integrated next-generation sequencing of 16S rDNA and metaproteomics differentiate the healthy urine microbiome from asymptomatic bacteriuria in neuropathic bladder associated with spinal cord injury. J Transl Med. 2012; 10: 174. FoutsDE PieperR SzpakowskiS PohlH KnoblachS SuhMJ Integrated next-generation sequencing of 16S rDNA and metaproteomics differentiate the healthy urine microbiome from asymptomatic bacteriuria in neuropathic bladder associated with spinal cord injury J Transl Med 2012 10 174 10.1186/1479-5876-10-174351120122929533 Search in Google Scholar

Wang K, Li M, Hakonarson H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010; 38(16): e164. WangK LiM HakonarsonH ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 2010 38 16 e164 10.1093/nar/gkq603293820120601685 Search in Google Scholar

Liu X, Jian X, Boerwinkle E. dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013; 34(9): E2393–E2402. LiuX JianX BoerwinkleE dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations Hum Mutat 2013 34 9 E2393 E2402 10.1002/humu.22376410989023843252 Search in Google Scholar

Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012; 6(2): 80–92. CingolaniP PlattsA WangLL CoonM NguyenT WangL A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3 Fly (Austin) 2012 6 2 80 92 10.4161/fly.19695367928522728672 Search in Google Scholar

Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol. 2010; 6(12): e1001025. DavydovEV GoodeDL SirotaM CooperGM SidowA BatzoglouS Identifying a high fraction of the human genome to be under selective constraint using GERP++ PLoS Comput Biol 2010 6 12 e1001025 10.1371/journal.pcbi.1001025299632321152010 Search in Google Scholar

Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42(Database issue): D980–D985. LandrumMJ LeeJM RileyGR JangW RubinsteinWS ChurchDM ClinVar: public archive of relationships among sequence variation and human phenotype Nucleic Acids Res 2014 42 Database issue D980 D985 10.1093/nar/gkt1113396503224234437 Search in Google Scholar

Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain. 2017; 140(2): e11. DistelmaierF HaackTB WortmannSB MayrJA ProkischH Treatable mitochondrial diseases: cofactor metabolism and beyond Brain 2017 140 2 e11 10.1093/brain/aww30327993888 Search in Google Scholar

Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: An updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 2016; 44(D1): D1251–D1257. CalvoSE ClauserKR MoothaVK MitoCarta2.0: An updated inventory of mammalian mitochondrial proteins Nucleic Acids Res 2016 44 D1 D1251 D1257 10.1093/nar/gkv1003470276826450961 Search in Google Scholar

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, et al. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013; 80(19): 1762–1770. LieberDS CalvoSE ShanahanK SlateNG LiuS HershmanSG Targeted exome sequencing of suspected mitochondrial disorders Neurology 2013 80 19 1762 1770 10.1212/WNL.0b013e3182918c40371942523596069 Search in Google Scholar

Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis. 2015; 38(3): 437–443. WortmannSB KoolenDA SmeitinkJA van den HeuvelL RodenburgRJ Whole exome sequencing of suspected mitochondrial patients in clinical practice J Inherit Metab Dis 2015 38 3 437 443 10.1007/s10545-015-9823-y443210725735936 Search in Google Scholar

Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Wieckowska A, et al. New perspective in diagnostics of mitochondrial disorders: Two years’ experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016; 14(1): 174. PronickaE Piekutowska-AbramczukD CiaraE TrubickaJ RokickiD Karkucińska-WieckowskaA New perspective in diagnostics of mitochondrial disorders: Two years’ experience with whole-exome sequencing at a national paediatric centre J Transl Med 2016 14 1 174 10.1186/s12967-016-0930-9490315827290639 Search in Google Scholar

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, et al. Mitochondrial diseases. Nat Rev Dis Primers. 2016; 2: 16080. GormanGS ChinneryPF DiMauroS HiranoM KogaY McFarlandR Mitochondrial diseases Nat Rev Dis Primers 2016 2 16080 10.1093/med/9780199658602.003.0011 Search in Google Scholar

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, et al. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proc Natl Acad Sci U S A. 2015; 112(17): 5473–5478. BelkadiA BolzeA ItanY CobatA VincentQB AntipenkoA Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants Proc Natl Acad Sci U S A 2015 112 17 5473 5478 10.1073/pnas.1418631112441890125827230 Search in Google Scholar

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018; 3: 16. ClarkMM StarkZ FarnaesL TanTY WhiteSM DimmockD Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases NPJ Genom Med 2018 3 16 10.1101/255299 Search in Google Scholar

Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, et al. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants. Am J Hum Genet. 2019; 105(4): 719–733. KingsmoreSF CakiciJA ClarkMM GaughranM FeddockM BatalovS A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants Am J Hum Genet 2019 105 4 719 733 10.1016/j.ajhg.2019.08.009681753431564432 Search in Google Scholar

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012; 4(118): 118ra10. CalvoSE ComptonAG HershmanSG LimSC LieberDS TuckerEJ Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing Sci Transl Med 2012 4 118 118ra10 10.1126/scitranslmed.3003310352380522277967 Search in Google Scholar

Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, et al. Brain imaging in mitochondrial respiratory chain deficiency: Combination of brain MRI features as a useful tool for genotype/phenotype correlations. J Med Genet. 2014; 51(7): 429–435. BricoutM GréventD LebreAS RioM DesguerreI De LonlayP Brain imaging in mitochondrial respiratory chain deficiency: Combination of brain MRI features as a useful tool for genotype/phenotype correlations J Med Genet 2014 51 7 429 435 10.1136/jmedgenet-2013-10225624793058 Search in Google Scholar

Mascalchi M, Montomoli M, Guerrini R. Neuroimaging in mitochondrial disorders. Essays Biochem. 2018; 62(3): 409–421. MascalchiM MontomoliM GuerriniR Neuroimaging in mitochondrial disorders Essays Biochem 2018 62 3 409 421 10.1042/EBC2017010930030366 Search in Google Scholar

Alves CAPF, Gonçalves FG, Grieb D, Lucato LT, Goldstein AC, Zuccoli G. Neuroimaging of Mitochondrial Cytopathies. Top Magn Reson Imaging. 2018; 27(4): 219–240. AlvesCAPF GonçalvesFG GriebD LucatoLT GoldsteinAC ZuccoliG Neuroimaging of Mitochondrial Cytopathies Top Magn Reson Imaging 2018 27 4 219 240 10.1097/RMR.000000000000017330086109 Search in Google Scholar

Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016; 79(2): 190–203. LakeNJ ComptonAG RahmanS ThorburnDR Leigh syndrome: One disorder, more than 75 monogenic causes Ann Neurol 2016 79 2 190 203 10.1002/ana.2455126506407 Search in Google Scholar

Finsterer J, Höftberger R, Stöllberger C, Rolinski B. Mimicry between mitochondrial disorder and multiple sclerosis. Metab Brain Dis. 2012; 27(2): 217–220. FinstererJ HöftbergerR StöllbergerC RolinskiB Mimicry between mitochondrial disorder and multiple sclerosis Metab Brain Dis 2012 27 2 217 220 10.1007/s11011-012-9277-y22311611 Search in Google Scholar

van der Knaap MS, Wolf NI, Heine VM. Leukodystrophies: Five new things. Neurol Clin Pract. 2016; 6(6): 506–514. van der KnaapMS WolfNI HeineVM Leukodystrophies: Five new things Neurol Clin Pract 2016 6 6 506 514 10.1212/CPJ.0000000000000289596482529849248 Search in Google Scholar

Niyazov DM, Kahler SG, Frye RE. Primary mitochondrial disease and secondary mitochondrial dysfunction: Importance of distinction for diagnosis and treatment. Mol Syndromol. 2016; 7(3): 122–137. NiyazovDM KahlerSG FryeRE Primary mitochondrial disease and secondary mitochondrial dysfunction: Importance of distinction for diagnosis and treatment Mol Syndromol 2016 7 3 122 137 10.1159/000446586498824827587988 Search in Google Scholar

eISSN:
1311-0160
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, other