Clinical and molecular findings in children with complex I deficiency

Cited by (264)

Items 101–200 of 264

1. A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
   Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco, Romina Oliva, Erika Fernández‐Vizarra, Federica Morani, Giulia Trani, Teresa Rizza et al. · 2020 · Neurobiology of Disease
2. A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 Mice
   Pedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna‐Sánchez, Massimo Zeviani, Carlo Fiore Viscomi · 2020 · Molecular Therapy — Methods & Clinical Development
3. Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides
   Antonio Martín‐Navarro, Andrés Gaudioso-Simón, Jorge Álvarez-Jarreta, Julio Montoya, Elvira Mayordomo, Eduardo Ruiz‐Pesini · 2017 · BMC Bioinformatics
4. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
   Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Maria Elisa Barone, Imen Dorboz, Odile Boespflug‐Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia et al. · 2018 · Orphanet Journal of Rare Diseases
5. Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice
   Dario Brunetti, Emanuela Bottani, Agnese Segala, Silvia Marchet, Fabio Rossi, Fiorenza Orlando, Marco Malavolta, Michele O. Carruba, Costanza Lamperti, Mauro Provinciali et al. · 2020 · Frontiers in Pharmacology
6. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle
   Ariel Brautbar, Jing Wang, José E. Abdenur, Richard C. Chang, Janet A. Thomas, Theresa A. Grebe, Cynthia Lim, Shao‐Wen Weng, Brett H. Graham, Lee‐Jun C. Wong · 2008 · Molecular Genetics and Metabolism
7. The molecular basis of human complex I deficiency
   Elena J. Tucker, Alison G. Compton, Sarah E. Calvo, David Ross Thorburn · 2011 · IUBMB Life
8. Cellular mechanisms of complex I-associated pathology
   Andrey Y. Abramov, Plamena R. Angelova · 2019 · Biochemical Society Transactions
9. Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
   Hélène Pagniez-Mammeri, Anne Lombès, M. Brivet, Hélène Ogier de Baulny, P. Landrieu, Alain Legrand, Abdelhamid Slama · 2009 · Molecular Genetics and Metabolism
10. Ataxia in mitochondrial disorders
    Massimo Zeviani, Alessandro Simonati, Laurence Albert Bindoff · 2011 · Handbook of clinical neurology
11. The clinical spectrum of the m.10191T>C mutation in complex I‐deficient Leigh syndrome
    Victoria Nesbitt, Patrick J. Morrison, Ellen Crushell, Deirdre E. Donnelly, Charlotte L. Alston, Langping He, Robert McFarland, Robert William Taylor · 2012 · Developmental Medicine & Child Neurology
12. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
    C. Lamperti, M. Fang, F. Invernizzi, Xuanzhu Liu, Hairong Wang, Qing Zhang, F. Carrara, I. Moroni, M. Zeviani, Jian-Guo Zhang et al. · 2012 · Molecular Genetics and Metabolism
13. Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases
    Sergio Papa, Vittoria Petruzzella, Salvatore Scacco, Anna Maria Sardanelli, Arcangela Iuso, Damiano Panelli, Rita Vitale, Raffaella Trentadue, Domenico De Rasmo, Nazzareno Capitanio et al. · 2009 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
14. Metabolic Alterations in Inherited Cardiomyopathies
    Claudia Sacchetto, Vasco Sequeira, Edoardo Bertero, Jan Dudek, Christoph Maack, Martina Calore · 2019 · Journal of Clinical Medicine
15. cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cells
    Sergio Papa, Salvatore Scacco, Domenico De Rasmo, Anna Signorile, Francesco Papa, Damiano Panelli, Annarita Nicastro, Raffaella Scaringi, Arcangela Santeramo, Emilio Roca et al. · 2010 · Biochimica et Biophysica Acta (BBA) - Bioenergetics
16. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
    Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio A. Tasca et al. · 2016 · Clinical Genetics
17. Mitochondrial complex I deficiency of nuclear origin
    Hélène Pagniez-Mammeri, Malgorzata Rak, Alain Legrand, Paule Bénit, Pierre Rustin, Abdelhamid Slama · 2011 · Molecular Genetics and Metabolism
18. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
    Bart Dermaut, Sara Seneca, Lina Dom, K Smets, Luc Ceulemans, Joél Smet, Boél De Paepe, Simon Tousseyn, Sarah Weckhuysen, Marc H. M. L. Gewillig et al. · 2009 · Journal of Neurology Neurosurgery & Psychiatry
19. Mitochondrial complex I protein differs among residual feed intake phenotype in beef cattle
    M.H. Ramos, M. S. Kerley · 2013 · Journal of Animal Science
20. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
    Kristoffer Björkman, Kalliopi Sofou, Niklas Darín, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali‐Reza Moslemi, M. Tulinius · 2015 · Mitochondrion
21. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
    Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine C. Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian et al. · 2017 · JAMA Neurology
22. Cardiological manifestations of mitochondrial respiratory chain disorders.
    Andrés Berardo, Olimpia Musumeci, António Toscano · 2011 · Europe PMC (PubMed Central)
23. Novel Insights into the Role of Neurospora crassa NDUFAF2, an Evolutionarily Conserved Mitochondrial Complex I Assembly Factor
    Bruno Pereira, Arnaldo Videira, Margarida Duarte · 2013 · Molecular and Cellular Biology
24. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
    Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano et al. · 2021 · Orphanet Journal of Rare Diseases
25. Subcomplex Iλ Specifically Controls Integrated Mitochondrial Functions in Caenorhabditis elegans
    Marni J. Falk, Julie R. Rosenjack, Erzsébet Polyák, Wichit Suthammarak, Zhongxue Chen, Philip G. Morgan, Margaret M. Sedensky · 2009 · PLoS ONE
26. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
    Yukiko Yatsuka, Yoshihito Kishita, Luke E. Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, Michael T. Ryan et al. · 2020 · Clinical Genetics
27. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
    Jessica Nouws, Flemming Wibrand, Mariël A.M. van den Brand, Hanka Venselaar, Morten Dunø, Allan Meldgaard Lund, Simon Trautner, Leo G.J. Nijtmans, Elsebet Østergard · 2013 · JIMD Reports
28. A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
    Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J. Robinson, Ulrich Mühlenhoff, Roland Lill et al. · 2017 · Journal of Medical Genetics
29. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency
    Syeda T. Ahmed, Charlotte L. Alston, Sila Hopton, Langping He, Iain Parry Hargreaves, Gavin Falkous, Monika Oláhová, Robert McFarland, Douglass M. Turnbull, Mariana C. Rocha et al. · 2017 · Scientific Reports
30. Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease
    Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D. Webb, Robert McFarland, Zofia M. Chrzanowska‐Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone et al. · 2018 · Human Mutation
31. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
    Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia et al. · 2018 · Human Molecular Genetics
32. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
    Daria Diodato, Federica Invernizzi, Eleonora Lamantea, Gigliola Fagiolari, Rossella Parini, Francesca Menni, Giancarlo Parenti, Lina Bollani, Elisabetta Pasquini, Maria Alice Donati et al. · 2014 · JIMD Reports
33. A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency
    Jong‐Hee Chae, Jin Sook Lee, Ki Joong Kim, Yong Seung Hwang, Eduardo Bonilla, Kurenai Tanji, Michio Hirano · 2007 · Pediatric Research
34. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
    Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Raffaele Cerutti, Shuaifeng Li, Dieu-Hien Rozsivalova, Sebastian Valenzuela, Şükrü Anıl Doğan et al. · 2021 · Nucleic Acids Research
35. Measurement of mitochondrial respiratory chain enzymatic activities in Drosophila melanogaster samples
    Michele Brischigliaro, Elena Frigo, Erika Fernández‐Vizarra, Paolo Bernardi, Carlo Fiore Viscomi · 2022 · STAR Protocols
36. A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome
    Lock Hock Ngu, Leo G.J. Nijtmans, Felix Distelmaier, Hanka Venselaar, Sjenet E. van Emst‐de Vries, Mariël A.M. van den Brand, Berendien J M Stoltenborg-Hogenkamp, Liesbeth T. Wintjes, Peter H.G.M. Willems, Lambertus P. van den Heuvel et al. · 2011 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
37. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome
    Jessie M. Cameron, Nevena MacKay, Annette Feigenbaum, Mark Andrew Tarnopolsky, Susan Blasér, Brian Harford Robinson, Andreas Schulze · 2015 · European Journal of Paediatric Neurology
38. A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
    Paola Da Pozzo, Elena Cardaioli, Edoardo Malfatti, Gian Nicola Gallus, Alessandro Malandrini, Carmen Gaudiano, Gianna Berti, Federica Invernizzi, Massimo Zeviani, Antonio Federico · 2009 · European Journal of Human Genetics
39. A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations
    Emily Zifa, Paschalis Theotokis, Archontia Kaminari, Helen Maridaki, Helen Leze, Efrosini Petsiava, Zissis Mamuris, Constantinos Stathopoulos · 2008 · Mitochondrion
40. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
    Alessandra Torraco, Marzia Bianchi, Daniela Verrigni, Vania Gelmetti, Lisa G. Riley, Marcello Niceta, Diego Martinelli, Arianna Montanari, Ye Guo, Teresa Rizza et al. · 2016 · Clinical Genetics
41. Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I–Mutant Fibroblasts
    Roberta Felici, Andrea Lapucci, Leonardo Cavone, Sara Pratesi, Rolando Berlinguer Palmini, Alberto Chiarugi · 2015 · Molecular Pharmacology
42. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
    Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He et al. · 2020 · EMBO Molecular Medicine
43. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations
    Irene Toldo, Margherita Nosadini, Chiara Boscardin, Giacomo Talenti, Renzo Manara, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi, Giorgio Perilongo, Stefano Sartori · 2018 · Metabolic Brain Disease
44. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy
    Najla Mezghani, Mouna Feki Mnif, Emna Mkaouar‐Rebai, Nozha Kallel, Ikhlass Haj Salem, Nadia Charfi, Mohamed Abid, Faiza Fakhfakh · 2011 · Biochemical and Biophysical Research Communications
45. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family
    Jing Wang, Ariel Brautbar, Alicia K.J. Chan, Tara Dzwiniel, Fang-yuan Li, Paula J. Waters, Brett H. Graham, Lee‐Jun C. Wong · 2008 · Molecular Genetics and Metabolism
46. Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India
    Kothari Sonam, Parayil Sankaran Bindu, MM Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura Ramalingaiah Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akthar Khan et al. · 2016 · Mitochondrion
47. Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
    Michela Di Nottia, Arianna Montanari, Daniela Verrigni, Romina Oliva, Alessandra Torraco, Erika Fernández‐Vizarra, Daria Diodato, Teresa Rizza, Marzia Bianchi, Michela Catteruccia et al. · 2017 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
48. Eight proteins play critical roles in RCC with bone metastasis via mitochondrial dysfunction
    Jiang Wang, Xiaolin Zhao, Jun Qi, Caihong Yang, Hao Cheng, Ye Ren, Lei Huang · 2015 · Clinical & Experimental Metastasis
49. Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review
    Yi‐Ting Hsieh, Ming‐Tao Yang, Yijie Peng, Wei-Cherng Hsu · 2010 · Ophthalmic Genetics
50. Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model
    Ivano Di Meo, Chiara Cavestro, Silvia Pedretti, Tingting Fu, Simona Ligorio, Antonello Manocchio, Lucrezia Lavermicocca, Paolo Santambrogio, Maddalena Ripamonti, Sonia Levi et al. · 2020 · International Journal of Molecular Sciences
51. Barth syndrome presenting with acute metabolic decompensation in the neonatal period
    Maria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo la Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi · 2006 · Journal of Inherited Metabolic Disease
52. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
    Katharina Danhauser, Arcangela Iuso, Tobias B. Haack, Peter Freisinger, Knut Brockmann, Johannes Adalbert Mayr, Thomas Meitinger, Holger Prokisch · 2011 · Molecular Genetics and Metabolism
53. Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence
    Esther Leshinsky‐Silver, Ruslan Shuvalov, Shani Inbar, Sarit Cohen, Dorit Lev, Tally Lerman‐Sagie · 2010 · Journal of Child Neurology
54. A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
    Oscar Ortega‐Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera‐Nieto, Carlos Martín Restrepo, Heidi Mateus, Marjo S. van der Knaap, Paul Laissue · 2013 · Mitochondrion
55. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
    Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha Saad Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza et al. · 2021 · Human Mutation
56. Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3
    Rebecca J. Levy, Purificación Gutiérrez Ríos, Hasan Orhan Akman, Monica Sciacco, Darryl C. De Vivo, Salvatore DiMauro · 2013 · Journal of Child Neurology
57. Mitochondrial Cardiomyopathy and Related Arrhythmias
    David Montaigne, Anju Duva Pentiah · 2015 · Cardiac Electrophysiology Clinics
58. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
    Laura Melchionda, Nadirah S. Damseh, Bassam Y. Abu Libdeh, Alessia Nasca, Orly N Elpeleg, Alice Zanolini, Daniele Ghezzi · 2014 · Frontiers in Genetics
59. Epileptic phenotypes in children with early‐onset mitochondrial diseases
    Sara Matricardi, Laura Canafoglia, Anna Ardissone, Isabella Moroni, Francesca Ragona, Daniele Ghezzi, Eleonora Lamantea, Nardo Nardocci, Silvana Franceschetti, Tiziana Granata · 2019 · Acta Neurologica Scandinavica
60. Variants in ATP5F1B are associated with dominantly inherited dystonia
    Alessia Nasca, Niccolò Emanuele Mencacci, Federica Invernizzi, Michael Zech, Ignacio Juan Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabé I. Bustos, Luigi Michele Romito, Dimitri Krainc et al. · 2023 · Brain
61. Siblings With Leukoencephalopathy
    Galen N. Breningstall, John M. Shoffner, Richard J. Patterson · 2008 · Seminars in Pediatric Neurology
62. A Select Subset of Electron Transport Chain Genes Associated with Optic Atrophy Link Mitochondria to Axon Regeneration in Caenorhabditis elegans
    Wendy Knowlton, Thomas Hubert, Zilu Wu, Andrew D. Chisholm, Yishi Jin · 2017 · Frontiers in Neuroscience
63. Mitochondrial respiratory complexes: Significance in human mitochondrial disorders and cancers
    Kunwar Somesh Vikramdeo, Sarabjeet Kour Sudan, Ajay P. Singh, Seema Singh, Santanu Dasgupta · 2022 · Journal of Cellular Physiology
64. MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I
    Costanza Lamperti, Daria Diodato, Eleonora Lamantea, Franco Carrara, Daniele Ghezzi, Paolo Mereghetti, Romana Rizzi, Massimo Zeviani · 2012 · Neuromuscular Disorders
65. Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes
    Masako Mukai, Eiichiro Nagata, Atsushi Mizuma, Mitsuhiko Yamano, Keizo Sugaya, Ichizo Nishino, Yu‐ichi Goto, Shunya Takizawa · 2016 · Internal Medicine
66. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNAIle m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
    Imen Chamkha, Emna Mkaouar‐Rebai, Hajer Aloulou, Imen Chabchoub, Chamseddine Kifagi, Nourhène Fendri-Kriaa, Thouraya Kammoun, Mongia Hachicha, Faiza Fakhfakh · 2010 · Biochemical and Biophysical Research Communications
67. Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance
    Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi · 2015 · Molecular Genetics and Metabolism Reports
68. PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy
    Suzanne C.E.H. Sallevelt, Joseph C. F. M. Dreesen, Marion Drüsedau, Debby M.E.I. Hellebrekers, Aimee D. C. Paulussen, Edith Coonen, Ron J T van Golde, Joep P.M. Geraedts, Luca Gianaroli, Maria Cristina Magli et al. · 2016 · Human Reproduction
69. Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
    Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo et al. · 2021 · Frontiers in Neurology
70. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
    Alessia Catania, Roberta Battini, Tommaso Pippucci, Rolando Pasquariello, M. L. Chiapparini, Marco Seri, Barbara Garavaglia, Giovanna Simonetta Zorzi, Nardo Nardocci, Daniele Ghezzi et al. · 2018 · Neurogenetics
71. Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia
    Faruk İncecik, Ozlem Mihriban Herguner, Şeyda Beşen, Sevcan Tuğ Bozdoğan, Neslihan Önenli Mungan · 2018 · Journal of Pediatric Neurosciences
72. Cystic Leucoencephalopathy in NDUFV1 Mutation
    Yamini Wadhwa, Seema Rohilla, Jaya Shankar Kaushik · 2018 · The Indian Journal of Pediatrics
73. Relationship between oxidative stress and lifespan in Daphnia pulex
    Benedicth Ukhueduan, Charles Andrew Schumpert, Eunsuk Kim, Jeffry L. Dudycha, Rekha C. Patel · 2022 · Scientific Reports
74. Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
    Adrián González-Quintana, Inés García‐Consuegra, Amaya Bélanger-Quintana, Pablo Serrano‐Lorenzo, Alejandro Lucía, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquı́n Arenas et al. · 2020 · Genes
75. Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report
    Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono et al. · 2017 · BMC Neurology
76. Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
    Silvia Marchet, Andrea Legati, Alessia Nasca, Ivano Di Meo, Manuela Spagnolo, Nadia Zanetti, Eleonora Lamantea, Alessia Catania, Costanza Lamperti, Daniele Ghezzi · 2020 · Human Mutation
77. Analysis of Human Mutations in the Supernumerary Subunits of Complex I
    Quynh-Chi L. Dang, Duong H. Phan, Abigail N. Johnson, Mukund Pasapuleti, Hind A. Alkhaldi, Fang Zhang, Steven B. Vik · 2020 · Life
78. Dysfunction of Mitochondrial Respiratory Chain Complex I in Neurological Disorders: Genetics and Pathogenetic Mechanisms
    Vittoria Petruzzella, Anna Maria Sardanelli, Salvatore Scacco, Damiano Panelli, Francesco Papa, Raffaella Trentadue, Sergio Papa · 2011 · Advances in experimental medicine and biology
79. Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees
    Kinga Hadzsiev, Anita Maász, Péter Kisfali, Endre Kálmán, Éva Gömöri, Endre Pál, Ervin L. Berényi, Katalin Komlósi, Béla Melegh · 2010 · NeuroMolecular Medicine
80. Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient
    Ivana Vodopivec, Tracey A. Cho, Joseph F. Rizzo, Matthew P. Frosch, Katherine B. Sims · 2016 · The Neurologist
81. Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease
    Marta Luna‐Sánchez, Cristiane Benincá, Raffaele Cerutti, Gloria Brea‐Calvo, Anna Yeates, Luca Scorrano, Massimo Zeviani, Carlo Fiore Viscomi · 2020 · Molecular Therapy
82. An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
    Federica Marra, Paola Lunetti, Rosita Curcio, Francesco Massimo Lasorsa, Loredana Capobianco, Vito Porcelli, Vincenza Dolce, Giuseppe Fiermonte, Pasquale Scarcia · 2021 · Biomolecules
83. Evidence for inefficient contraction and abnormal mitochondrial activity in sarcopenia using magnetic resonance spectroscopy
    Mary Charlotte Stephenson, Jamie Xiu Mei Ho, Eugenia Migliavacca, Maria Kalimeri, Neerja Karnani, Subhasis Banerji, John James Totman, Jérôme N. Feige, Reshma Aziz Merchant, Stacey K.H. Tay · 2023 · Journal of Cachexia Sarcopenia and Muscle
84. Phenotyping mitochondrial DNA ‐related diseases in childhood: A cohort study of 150 patients
    Anna Ardissone, Giulia Ferrera, Costanza Lamperti, Valeria Tiranti, Daniele Ghezzi, Isabella Moroni, Eleonora Lamantea · 2023 · European Journal of Neurology
85. Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
    Silvia Marchet, Federica Invernizzi, Flavia Blàsevich, Valentina Bruno, Sabrina Dusi, Paola Venco, Chiara Fiorillo, Giovanni Baranello, Francesco Pallotti, Eleonora Lamantea et al. · 2019 · Mitochondrion
86. Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
    Franziska Hoeser, Johannes Schimpf, Jean‐Paul di Rago, Déborah Tribouillard‐Tanvier, Vincent Procaccio, Marie‐Laure Martin‐Négrier, Aurélien Trimouille, Olivier Biner, Christoph von Ballmoos, Thorsten Friedrich · 2021 · Scientific Reports
87. Differential expression of cardiac mitochondrial proteins
    Julia R. Smith, Isaac R. Matus, Daniel Andrew Beard, Andrew Seth Greene · 2008 · PROTEOMICS
88. NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review
    Aakash Mahesan, Puneet Kumar Choudhary, Gautam Kamila, Aradhana Rohil, Ankit Kumar Meena, Atin Kumar, Prashant Jauhari, Biswaroop Chakrabarty, Sheffali Gulati · 2024 · Pediatric Neurology
89. A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features
    Edoardo Malfatti, Elena Cardaioli, Carla Battisti, Paola Da Pozzo, Alessandro Malandrini, Alessandra Rufa, Raffaele Rocchi, Antonio Federico · 2010 · Journal of the Neurological Sciences
90. Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain
    Paola Zanfardino, Stefano Doccini, Filippo Maria Santorelli, Vittoria Petruzzella · 2021 · International Journal of Molecular Sciences
91. A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
    Taoran Li, Qun Wang, Maomao Liu, Ruijuan Lv · 2019 · Frontiers in Neurology
92. 1.5 Electron Transport. Structure, Redox-Coupled Protonmotive Activity, and Pathological Disorders of Respiratory Chain Complexes
    Sergio Papa, Vittoria Petruzzella, Salvatore Scacco · 2007 · Springer eBooks
93. Epilepsia partialis continua and defects in the mitochondrial respiratory chain
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94. Insights into the pathogenic character of a commonNUBPLbranch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model
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