Clinical and molecular findings in children with complex I deficiency

Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L. +4 more·2004·Biochimica et Biophysica Acta (BBA) - Bioenergetics
DOI 10.1016/j.bbabio.2004.09.006

Cited by (264)

Items 201–264 of 264

  1. Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement
    Margherita Protasoni, Claudio Bruno, Maria Alice Donati, Khadra Mohamoud, Mariasavina Severino, Anna Elsa Maria Allegri, Alan J. Robinson, Aurelio Reyes, Massimo Zeviani, Caterina Garone · 2019 · Molecular Genetics and Metabolism
  2. A systematic review on the biochemical threshold of mitochondrial genetic variants
    Karan K. Smith, Jesse D. Moreira, Callum R. Wilson, June O. Padera, Ashlee N. Lamason, Liying Xue, Deepa Mangalat Gopal, David Flynn, Jessica L. Fetterman · 2024 · Genome Research
  3. A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I
    Franziska Hoeser, Patricia Saura, Caroline Harter, Ville R. I. Kaila, Thorsten Friedrich · 2025 · Chemical Science
  4. Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity
    Samantha Corrà, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Sirelin Sillamaa, Emily Hoberg, Karin Johansson, Urška Rovšnik, Sara Volta et al. · 2025 · Nature Communications
  5. Adult-onset mitochondrial encephalopathy in association with the MT-ND3 T10158C mutation exhibits unique characteristics: A case report
    Xiaoli Fu, Xiangxue Zhou, Zhu Shi, Weicheng Zheng · 2019 · World Journal of Clinical Cases
  6. Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
    Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blàsevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Ovidia Morandi et al. · 2016 · Molecular Genetics and Metabolism Reports
  7. A New Semantic Functional Similarity over Gene Ontology
    Jong Cheol Jeong, Xue‐wen Chen · 2014 · IEEE Transactions on Computational Biology and Bioinformatics
  8. Biochemical and genetic analysis of Leigh syndrome patients in Korea
    Jong‐Hee Chae, Jin Sook Lee, Ki Joong Kim, Yong Seung Hwang, Michio Hirano · 2007 · Brain and Development
  9. 189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands
    Shamima Rahman, David Ross Thorburn · 2013 · Neuromuscular Disorders
  10. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
    Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo et al. · 2024 · International Journal of Molecular Sciences
  11. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
    Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo P. Comi, Alessia Catania, Costanza Lamperti et al. · 2022 · Cells
  12. Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy
    Nir Ayalon, Leigh Anne Flore, Thomas G. Christensen, Flora Sam · 2013 · International Journal of Cardiology
  13. Mitochondrial function and epigenetic outlook in Leber's Hereditary Optic Neuropathy (LHON)
    Subramaniam Mohana Devi, Aswathy P. Nair, I. Mahalaxmi, Balachandar Vellingiri · 2021 · Neurology Perspectives
  14. Mitochondrial cardiomyopathies
    Irina V. Leontyeva, Ekaterina Alexandrovna Nikolaeva · 2016 · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
  15. The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders
    Salvatore DiMauro, Valentina Emmanuele · 2012 · Springer eBooks
  16. Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
    Marzia Bianchi, Teresa Rizza, Daniela Verrigni, Diego Martinelli, Giulia Tozzi, Alessandra Torraco, Fiorella Piemonte, Carlo Dionisi‐Vici, Valério Nobili, Paola Francalanci et al. · 2011 · Biochemical and Biophysical Research Communications
  17. The mitochondrial proteome and human disease
    Vamsi Krishna Mootha · 2015 · Pathology
  18. Epigenetic regulation of the respiratory chain by a mitochondrial distress-related redox signal
    Marius Wilhelm Baeken, Ankush Borlepawar, Philipp Kötzner, Holger Richly, Christian Behl, Bernd Moosmann, Parvana Hajieva · 2025 · Frontiers in Cell and Developmental Biology
  19. Heterogeneity of the endoplasmic reticulum Ca2+ store determines colocalization with mitochondria
    Víctor Hugo Sánchez-Vázquez, Ericka Martínez-Martínez, Martín-Leonardo Gallegos-Gómez, Juan Manuel Arias, Giorgia Pallafacchina, Rosario Rizzuto, Agustı́n Guerrero-Hernández · 2022 · Cell Calcium
  20. Isolated mitochondrial stroke‐like episodes in an elderly patient with the MT ‐ ND 3 gene mutation
    Masako Mukai, Keizo Sugaya, Tadashi Ozawa, Yu‐ichi Goto, Akira YAGISHITA, Shiro Matsubara, Kota Bokuda, Akinori Miyakoshi, Imaharu Nakano · 2015 · Neurology and Clinical Neuroscience
  21. Leigh Syndrome Due to mtDNA Pathogenic Variants
    Cristina Pereira, Carolina F. de Souza, Leonardo Vedolin, Filippo Pinto e Vairo, Cláudia Fernandes Lorea, Cláudia Ferreira da Rosa Sobreira, Célia Nogueira, Laura Vilarinho · 2019 · Journal of Inborn Errors of Metabolism and Screening
  22. Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene
    Elena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, Alessandro Malandrini, Claudia Nesti, Anna Rubegni, Niccola Funel, Antonio Federico, Filippo Maria Santorelli, Maria Teresa Dotti · 2018 · Biochemical and Biophysical Research Communications
  23. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene
    Elena Cardaioli, Edoardo Malfatti, Paola Da Pozzo, Gian Nicola Gallus, Maria Alessandra Carluccio, Alessandra Rufa, Nila Volpi, Maria Teresa Dotti, Antonio Federico · 2011 · Journal of the Neurological Sciences
  24. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
    Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania, Costanza Lamperti · 2024 · Orphanet Journal of Rare Diseases
  25. The Genetic Evidence of Burn-Induced Cardiac Mitochondrial Metabolism Dysfunction
    Jake Jianjun Wen, Claire B. Cummins, Taylor Williams, Ravi S. Radhakrishnan · 2020 · Biomedicines
  26. Genetic causes of mitochondrial complex I deficiency in children
    Reetta Hinttala · 2006
  27. PGC1α and Exercise Adaptations in Zebrafish
    Alice Parisi, Peter Blattmann, Giulia Lizzo, Vivienne Stutz, Laura Strohm, Joy Richard, Gabriele Civiletto, Aline Charpagne, Frédéric Raymond, Cédric Gobet et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
  28. Mutation in an mtDNA Protein-Coding Gene
    Sara Shanske, Ali Naini, Ramen H. Chmait, Hasan Orhan Akman, MAHESH M. MANSUKHANI, Jiesheng Lu, Michio Hirano, Salvatore DiMauro · 2012 · Journal of Child Neurology
  29. The clinically relevant triple mutation in the mtND1 gene inactivates Escherichia coli complex I
    Franziska Hoeser, Maximilian Weiß, Thorsten Friedrich · 2022 · FEBS Letters
  30. Mechanisms of Bioenergy Production in Mitochondria
    José Marı́n-Garcı́a · 2012 · Springer eBooks
  31. DIFFERENTIAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY
    Irina V. Leontyeva · 2017 · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
  32. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a Japanese child: Clinical, radiological and molecular genetic analysis
    Laila Selim, Dina Ahmed Mehaney · 2013 · Egyptian Journal of Medical Human Genetics
  33. Cadeia Respiratória Mitocondrial Aspectos Clínicos, Bioquímicos, Enzimáticos e Moleculares Associados ao Défice do Complexo I
    Mariana Ferreira, Tatiana Quinta Aguiar, Laura Vilarinho · 2008 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
  34. Mitochondrial Myopathies and Related Diseases
    Balan Louis Gaspar, Rakesh Kumar Vasishta, Bishan Dass Radotra · 2018 · Springer eBooks
  35. The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I
    Zeinab Alsadat Ahmadi, Ulrich Brandt · 2025 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  36. Mitochondrial Encephalomyopathies
    Darryl C. De Vivo, Carmen Paradas, Salvatore DiMauro · 2014 · Elsevier eBooks
  37. Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS
    Tongling Liufu, Xutong Zhao, Meng Yu, Zhiying Xie, Lingchao Meng, He Lv, Wei Yan Zhang, Yun Yuan, Guo‐Gang Xing, Jianwen Deng et al. · 2024 · The FASEB Journal
  38. Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
    Alberto Andrea Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Maria Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga et al. · 2023 · Annals of Clinical and Translational Neurology
  39. Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
    Francesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, Alessandra Torraco, Valerio Zaccaria, Teresa Rizza, Francesco Pisani, Enrico Bertini, Vincenzo Leuzzi · 2024 · Annals of Clinical and Translational Neurology
  40. Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE ‐Like Features
    Giuliana Capece, Luca Caumo, Sara Volta, Pietro Riguzzi, Elena Sogus, Angela Petrosino, Sara Vianello, Daniele Sabbatini, Leonardo Salviati, Renzo Manara et al. · 2026 · European Journal of Neurology
  41. Mitochondrial complex I deficiency-associated diseases and models
    Lena Jentsch, Natascia Ventura · 2026 · Cellular and Molecular Life Sciences
  42. Complex Subunits and Assembly Genes: Complex I
    Ann Saada · 2012 · Springer eBooks
  43. Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
    Mihael Rogač, David Neubauer, Lea Leonardis, Nuška Pečarič Meglič, Marija Meznarič, Aleš Maver, Wolfgang Sperl, BM Garavaglia, Eleonora Lamantea, Borut Peterlin · 2021 · Balkan Journal of Medical Genetics
  44. A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
    Sareh Hosseinpour, Ehsan Razmara, Morteza Heidari, Zahra Rezaei, Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Reyhaneh Kameli, Ali Hosseini Bereshneh, Hassan Vahidnezhad, Reza Azizi Malamiri et al. · 2023 · Brain and Development
  45. Partial tandem duplication of mtDNA–tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy
    Paola Arzuffi, Costanza Lamperti, Erika Fernández‐Vizarra, Paola Tonin, Lucia Ovidia Morandi, Massimo Zeviani · 2012 · Neuromuscular Disorders
  46. Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report
    Josef Finsterer · 2024 · Cureus
  47. Mitochondrial disease: mechanisms, signalling, and therapeutic opportunities
    Samantha Corrà, Luke Young, Anthony L. Moore, Carlo Fiore Viscomi · 2026 · Free Radical Biology and Medicine
  48. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy
    Masako Mukai, Eiichiro Nagata · 2017 · Internal Medicine
  49. Efecto de las mutaciones en el ADN mitocondrial sobre la expresión de genes implicados en la función mitocondrial
    Marc Cuadros Arasa · 2013 · TDX (Tesis Doctorals en Xarxa)
  50. From QTL to QTG : molecular and biochemical studies toward understanding the influence of a mouse chromosome 1 locus on alcohol withdrawal vulnerability.
    Deaunne L. Denmark · 2009
  51. Running title: A yeast model for complex I
    Mateusz M. Wydro, Janneke Balk · 2013
  52. Preventing the transmission of mitochondrial diseases
    Sallevelt · 2017
  53. In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation
    Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Raffaele Cerutti, Shuaifeng Li, Dieu Hien Ho, Sebastian Valenzuela, Anil Sukru Dogan et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  54. Urinary metabolomics investigation of Ndufs4 knockout mice
    W Horak · 2020 · Boloka Institutional Repository (North-west University)
  55. Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases
    Yuri A. Zárate, Hilary J. Vernon, Katherine A. Bosanko, Praveen Kumar Ramani, Murat Gökden, Karin Writzl, Marija Meznarič, Tina Vipotnik Vesnaver, Raghu H. Ramakrishnaiah, Damjan Osredkar · 2021 · Frontiers in Genetics
  56. A typical phenotypes due to NDUFV1 mutations
    Nurun Nahar Borna, Yasushi Okazaki · 2022 · Pediatric Urology Case Reports
  57. Estudo molecular da neuropatia optica hereditaria de Leber em pacientes brasileiros
    Paulo Maurício do Amôr Divino Miranda · 2010
  58. The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease
    Luisa Zupin, Valeria Capaci, Maria Teresa Bonati, Eleonora Lamantea, Muhammad Suleman, Andrea Marsala, Fulvio Celsi, Beatrice Spedicati, Sérgio Crovella, Giulia Gortani et al. · 2025 · Mitochondrion
  59. Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female
    Stephen Gerard Kaler, William Fyke, Angela Lignelli‐Dipple, Valentina Emmanuele, Eun Bi Lee, Hyein Kathy Lee, Adiel Munk, Andrés Morales, Alejandro D. Iglesias, Priyanka Mehrotra · 2025 · Molecular Genetics and Metabolism Reports
  60. Influence de la génétique mitochondriale en pathologie : apport des techniques de séquençage haut débit
    Céline Bris · 2017
  61. Cardiac manifestations of inherited metabolic disease linked to cellular metabolism of vitamin B12 : study in two murine models of invalidation of Mtr and MMACHC genes
    Viola Jepchumba Kosgei · 2019
  62. Impact de la voie d’import mitochondrial contrôlée par le complexe AIF/CHCHD4 sur la survie des cellules cancéreuses et la réponse aux traitements anticancéreux
    Camille Reinhardt · 2019 · theses.fr (ABES)
  63. Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation
    Zimeng He, Huafang Jiang, T Y Li, Yang Liu, Ying Zou, Chao‐Jin Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song et al. · 2026 · CNS Neuroscience & Therapeutics
  64. Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review
    Giulia Ferrera, Federica Invernizzi, Manuela Spagnolo, Eleonora Lamantea, Isabella Moroni, Anna Ardissone · 2026 · Journal of the Neurological Sciences