2023
Astner-Rohracher A et al. A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease. Front Neurol. 2023 Jan 11;13:1063733
De Paepe B et al. Neonatal lactic acidosis explained by LARS2 defect. Pediatr Res. 2023 Mar;93(4):740-743
Harrer P et al. Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Ann Neurol. 2023 Feb;93(2):330-335
Muñoz-Pujol G et al. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. Brain Pathol. 2023 May;33(3):e13134
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2022
Ban R et al. The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain. 2022 Dec 19;145(12)
Bölsterli BK et al. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients. 2022 Aug 31;14(17):3605
Della Marina A et al. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially. Eur J Paediatr Neurol. 2022 Nov;41:27-35
Garavaglia B et al. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord. 2022 Apr;97:52-56
Hawe JS et al. Network reconstruction for trans acting genetic loci using multi-omics data and prior information. Genome Med. 2022 Nov 7;14(1):125
Imasawa T et al. Clinicopathologic Features of Mitochondrial Nephropathy. Kidney Int Rep. 2022 Jan 11;7(3):580-590
Jiang H et al. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. J Inherit Metab Dis. 2022 Mar;45(2):264-277
Karaa A et al. Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Adv Genet (Hoboken). 2022 Mar;3(1):2100047
Kaiyrzhanov R et al. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712
Liu Z et al. Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. J Med Genet. 2022 Apr;59(4):351-357
Muñoz-Pujol G et al. Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency. Int J Mol Sci. 2022 Oct 15;23(20):12367
Nasca A et al. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. Cells. 2022 Mar 12;11(6):974
Pennisi A et al. Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? J Med Genet. 2022 Feb;59(2):204-208
Peymani F, Farzeen A, Prokisch H. Pediatr RNA sequencing role and application in clinical diagnostic. Investig. 2022 Mar 5;6(1):29-35
Roesch S et al. Mitochondrial Disease and Hearing Loss in Children: A Systematic Review. Laryngoscope. 2022 Dec;132(12):2459-2472
Scala M et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Mar;43(3):403-419
Smirnov D et al. Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes. Hum Mutat. 2022 Aug;43(8):1056-1070
Stenton SL et al. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain. 2022 Jun 3;145(5):1624-1631
Stenton SL et al. Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital. Ann Neurol. 2022 Apr;91(4):466-482
Straccia G et al. ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism Relat Disord. 2022 Nov;104:3-6
Svorenova T et al. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism Relat Disord. 2022 Sep;102:89-91
Thompson K et al. Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. HGG Adv. 2022 Mar 4;3(2):100097
Torraco A et al. Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal. Hum Mutat. 2022 Jan;43(1):99-100
Wortmann SB et al. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. J Inherit Metab Dis. 2022 Jul;45(4):663-681
Xu M et al. Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome. Mitochondrion. 2022 Jan;62:13-23
Yépez VA et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 2022 Apr 5;14(1):38
Zech M et al. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Ann Neurol. 2022 Feb;91(2):225-237
2021
Alston CL et al. The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. Pathol. 2021 Jul;254(4):430-442
Elstner E et al. Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers. Int J Mol Sci. 2021 Oct 14;22(20):11080
Friederich MW et al. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 Aug;133(4):362-371
Ivernizzi F et al. Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 Brain. 2021 Oct 22;144(9):e74
Stenton SL et al. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest 2021 Mar 15;131(6)
Torraco A et al. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum Mutat. 2021 Jun;42(6):699-710
Vidali S et al. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO Mol Med 2021 Dec 7;13(12)
2020
Alston C et al. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet. 2020 Jan 2;106(1):92-101.
Del Dotto V et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. J Clin Invest. 2020 Jan 2;130(1):108-125.
González-García P et al. Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism. Hum Mol Genet. 2020 Sep 25.ahead of print
Gusic M, Prokisch H. ncRNAs: New Players in Mitochondrial Health and Disease? Front Genet. 2020 Feb 28;11:95.
Gusic M et al. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. Am J Hum Genet. 2020 Jan 2;106(1):102-111.
Illsinger S et al. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. Eur J Med Genet. 2020 Aug 26;63(11):104046.
Mercati O et al. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. Eur J Med Genet. 2020 Aug 8;63(11):104033.
Meul T. et al. Mitochondrial Regulation of the 26S Proteasome. Cell Rep. 2020 Aug 25;32(8):108059.
Stendel C et al. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurol Genet. 2020 Jan 13;6(1):e393.
Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics. J Inherit Metab Dis. 2020 Jan;43(1):25-35.
Stenton SL, Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine. 2020 Jun;56:102784.
Stenton SL, Prokisch H. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders. Clin Lab Med. 2020 Jun;40(2):121-133.
Tan J et al. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine. 2020 Apr;54:102730.
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2019
Catania A et al. Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet J Rare Dis. 2019 Oct 29;14(1):236.
Eraslan B et al. Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues. Mol Syst Biol. 2019 Feb 18;15(2):e8513.
Feichtinger RG et al. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 Nov;21(11):2521-2531.
Iuso A et al. A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. JIMD Rep. 2019;44:1-7.
Pulman J et al. Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement. Hum Mol Genet. 2019 May 1;28(9):1445-1462.
Saoura M et al. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum Mutat. 2019 Oct;40(10):1731-1748.
Schlicht K et al. The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. Hum Genet. 2019 Apr;138(4):375-388.
Stalke A et al. Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. Eur J Hum Genet. 2019 Jun;27(6):879-887.
Van Bergen NJ et al. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain. 2019 Jan 1;142(1):50-58.
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2018
Alston CL et al. Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet. 2018 Oct 4;103(4):592-601.
Brechtmann F. et al. OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. Am J Hum Genet. 2018 Dec 6;103(6):907-917.
Danhauser et al. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018 Nov 1;103(5):817-825.
Gardeitchik T et al. Bi-allelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia, and multiple OXPHOS complex deficiencies. Am J Hum Genet. 2018 Apr 5;102(4):685-695.
Gauthier J et al. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 Jun;83(6):1089-1095.
Herberg U et al. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis. 2018 Jul 19;13(1):120.
Iuso A et al. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030.
Kremer LS, Wortmann SB, Prokisch H. "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J Inherit Metab Dis. 2018 May;41(3):525-532.
Lenz D et al. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet Med. 2018 Oct;20(10):1255-1265.
Milev MP et al. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J Med Genet. 2018 Nov;55(11):753-764.
Oláhova M et al. Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504.
Piekutowska-Abramczu D et al. NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy. Am J Hum Genet. 2018 Mar 1;102(3):460-467.
Repp BM et al. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis. 2018 Jul 19;13(1):120.
Xu Z et al. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. Am J Hum Genet. 2018 Jul 5;103(1):100-114.
2017
Ait-El-Mkadem S et al. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet. 2017 Jan 5;100(1):151-159.
Anikster Y et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Am J Hum Genet. 2017 Feb 2;100(2):257-266.
Baertling F et al. Neonatal encephalocardiomyopathy caused by mutations in VARS2. Metab Brain Dis. 2017 Feb;32(1):267-270.
Catarino CB et al. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion. 2017 Sep;36:15-20.
Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain. 2017 Feb;140(2):e11.
El-Hattab AW et al. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 Dec;38(12):1649-1659.
Feichtinger RG et. al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 5;101(4):525-538.
Feichtinger RG et al. Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. Med Cell Longev. 2017;2017:7202589.
Habarou F et al. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. Am J Hum Genet. 2017 Aug 3;101(2):283-290.
Herebian D et al. Detection of 6-demethoxyubiquinone in CoQ(10) deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. Mol Genet Metab. 2017 Jul;121(3):216-223.
Koch J et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain. 2017 Feb;140(2):279-286.
Kremer LS et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017 Jun 12;8:15824.
Kuechler A et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet. 2017 Feb;25(2):183-191.
Maas RR et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec;82(6):1004-1015.
Mancuso M et al. Consortium on Trial Readiness in Mitochondrial Myopathies. International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscul Disord. 2017 Dec;27(12):1126-1137.
Wortmann SB et al. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum Mutat. 2017 Dec;38(12):1786-1795.
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 Aug;48(4):309-314.
2016
Alston CL et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27.
Alson CL et al. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet. 2016 Sep; 53(9): 634–641.
Baertling F et al. The many faces of paediatric mitochondrial disease on neuroimaging. Childs Nerv Syst. 2016 Nov;32(11):2077-2083.
Collin E et al. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. Am J Hum Genet. 2016 Sep 1;99(3):695-703.
Danhauser K et al. EARS2 mutations cause fata lneonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab Brain Dis. 2016 Jun;31(3):717-21.
Guarani V et al. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. eLife. 2016; 5: e17163.
Floyd BJ et al. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Mol Cell. 2016 Aug 18;63(4):621-32.
Haack TB et al. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am J Hum Genet. 2016 Sep 1;99(3):735-43.
Kennedy H et al. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase. Am J Hum Genet. 2016 Sep 1;99(3):674-82.
Koch J et al. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J Med Genet. 2016 Apr;53(4):270-8.
Kopajtich R et al. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet. 2016 Aug 4;99(2):414-22.
Kremer SK et al. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet. 2016 Feb 4; 98(2): 358–362.
Kremer LS et al. Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. J Hepatol. 2016 Aug;65(2):377-85.
Kremer LS et al. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. Hum Genet. 2016 Oct 6;99(4):894-902.
Olsen RK et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet. 2016 Jun 2;98(6):1130-45.
Otten AB et al. Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells. Cell Rep. 2016 Jul 19;16(3):622-30.
Sánchez-Caballero L et al. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016 Jul 7;99(1):208-16.
Schiff M., Rustin P. Idebenone in Friedreich ataxia and Leber Hereditary Optic Neuropathy: Close mechanisms, similartherapy? Brain 2016Jul;139(Pt 7):e39.
Sheffer R et al. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Am J Med Genet A. 2016 Jun;170(6):1603-7.
Staufner C et al. Genetic cause and prevalence of hydroxyprolinemia. J Inherit Metab Dis. 2016 Sep;39(5):625-32.
Tuschl K et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia. Nat Commun. 2016; 7: 11601.
Van Haute L et al. Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. 2016; 7: 12039.