Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant by Nashwa Ahmed

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Diagnostic dilemma: Leber's hereditary optic neuropathy in a 70-year-Old woman by Alexandra Pietraszkiewicz, Azraa Ayesha, Kathleen B. Digre, Judith EA. Warner, Meagan D. Seay, Alison V. Crum, Bradley J. Katz

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An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy by Fumio Takano, Kaori Ueda, Takuji Kurimoto, Mina Arai, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura

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Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models by Marcel Brügel, Ann-Sophie Kiesel, Tobias B. Haack, Susana Peralta

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Therapies for Mitochondrial Disorders by Kayli Sousa Smyth, Anne Mulvihill

Subjects: “…mitochondrial diseases…”
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

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Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees by Yaojun Xie, Keyi Li, Li Yang, Xiaofei Zeng, Zhehui Chen, Xue Ma, Luyi Zhang, Yuwei Zhou, Liqin Jin, Yanling Yang, Xiaoting Lou

Subjects: “…Mitochondrial diseases…”
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Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome by Ji-Hoon Na, Young-Mock Lee

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NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model by Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, Chika Watanabe, Eriko F. Jimbo, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Kei Murayama, Akira Ohtake, Ryozo Nagai, Hitoshi Osaka, Kenichi Aizawa

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Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series by Panagiota-Eleni Tsalouchidou, Clara Juenemann, Wiebke Hahn, Felix Zahnert, Leona Möller, Lukas Hakel, André Kemmling, Katja Menzler, Ole J. Simon, Lars Timmermann, Susanne Knake, Felix Bernhard

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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

“…Due to the concern for mitochondrial disease, ophthalmologic evaluation was performed that revealed bilateral midperiphery pigmentary mottling. …”
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Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies by Kevin K. McCully, Hannah M. Bossie, Fran D. Kendall

“…Participants (n = 7) with mitochondrial disease and controls (n = 9) were tested (ages 18–54 years). …”
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The landscape of rare mitochondrial DNA variants in sudden cardiac death: A potential role for ATP synthase by Elena Luppi, Monica De Luise, Carla Bini, Guido Pelletti, Gaia Tioli, Ivana Kurelac, Luisa Iommarini, Susi Pelotti, Giuseppe Gasparre

“…Sudden cardiac death (SCD) is a major health concern, which can be the sign of a latent mitochondrial disease. However, mitochondrial DNA (mtDNA) contribution is largely unexplored in SCD at population level. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. …”
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Mitochondrial Disorder Aggravated by Metoprolol by Cheryl Samuels, Mary Kay Koenig, Mariana Hernandez, Aravind Yadav, Ricardo A. Mosquera

“…In patients with mitochondrial disease, these effects can be amplified. Previous case reports have been published in the adult population; however, their impact in pediatric patients has not been reported. …”
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Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome by F. Jaballah, R. Ben Soussia Nouira, S. Mallouli, H. Boussaid, S. Younes, L. Zarrouk, S. Younes

“…Leigh syndrome (LS) is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy with an estimated incidence of 1:40,000 births. …”
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Comprehensive characterization of mitochondrial bioenergetics at different larval stages reveals novel insights about the developmental metabolism of Caenorhabditis elegans. by Danielle F Mello, Luiza Perez, Christina M Bergemann, Katherine S Morton, Ian T Ryde, Joel N Meyer

“…Caenorhabditis elegans is widely used to study developmental biology, mitochondrial disease, and mitochondrial toxicity. Oxidative phosphorylation generally increases during development in many species, and genetic and environmental factors may alter this normal trajectory. …”
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Follow-Up of Neonatal Hearing Screening in the Risk Factor Group for Hearing Loss: Results from a Tertiary Medical Center by Miriam Geal Dor, Menachem Gross, Cahtia Adelman

“…Another nine cases had late-onset hearing loss (three meningitis, five CMV, and one with a mitochondrial disease). An additional six cases were diagnosed late, and the age of onset of the hearing loss was unknown (two intubated, two with hydrocephalus, one with Cerebral Palsy, and one with general developmental delay). …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Moreover, this report delineated the process of prenatal counseling and diagnostic testing that was undertaken for the subsequent pregnancy of the patient’s mother.Conclusion: The presence of ataxia, cognitive impairment, and peripheral neuropathy in children should prompt consideration of COX20-related mitochondrial disease. Utilizing WES is beneficial for identifying COX20 mutations, and offering prenatal counseling and diagnostic testing to mothers of affected children can reduce the birth rate of children with such mitochondrial diseases.Keywords: COX20, complex IV deficiency, prenatal counseling, prenatal diagnosis…”
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Study of the effect of the introduction of mitochondrial import determinants into the gRNA structure on the activity of the gRNA/SpCas9 complex in vitro by E. G. Zakirova, Y. V. Vyatkin, N. A. Verechshagina, V. V. Muzyka, I. O. Mazunin, K. E. Orishchenko

“…The clinical symptoms of mitochondrial diseases and the degree of their manifestation directly depend on the number of mutant mtDNA molecules in the cell. …”
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