Neuropathologic Aspects of Cytochrome C Oxidase Deficiency

著者: Tanji, Kurenai, Bonilla, Eduardo
出版年 Brain Pathol (2006)

Inclusion Body Myositis: A Case Presenting with Respiratory Failure and Autopsy Findings Leading to the Hypothesis of a Paraneoplastic Cause

著者: Dardis, Christopher, Antezana, Ariel, Tanji, Kurenai, Maccabee, Paul
出版年 Am J Case Rep (2017)

Unexpected Vascular Enrichment of SCO1 over SCO2 in Mammalian Tissues : Implications for Human Mitochondrial Disease

著者: Brosel, Sonja, Yang, Hua, Tanji, Kurenai, Bonilla, Eduardo, Schon, Eric A.
出版事項 2010

Clinical Reasoning: A 58-year-old man with progressive ptosis and walking difficulty

著者: Kuo, Pei-Hsin, Lo, Raymond Y., Tanji, Kurenai, Kuo, Sheng-Han
出版年 Neurology (2017)

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis

著者: Zanazzi, George, Arshad, Muhammad, Maurer, Mathew S., Brannagan, Thomas H., Tanji, Kurenai
出版年 J Clin Neuromuscul Dis (2019)

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6

著者: Berardo, Andres, Emmanuele, Valentina, Vargas, Wendy, Tanji, Kurenai, Naini, Ali, Hirano, Michio
出版年 J Neurol (2019)

GYG1: A distal myopathy with polyglucosan bodies

著者: Nicolau, Stefan, Tracy, Jennifer A., Pisapia, David J., Tanji, Kurenai, Milone, Margherita
出版年 JIMD Rep (2020)

MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation

著者: Emmanuele, Valentina, Silvers, David S., Sotiriou, Evangelia, Tanji, Kurenai, DiMauro, Salvatore, Hirano, Michio
出版事項 2011

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia

著者: Sotiriou, Evangelia, Çoku, Jorida, Tanji, Kurenai, Huang, Hua-bin, Hirano, Michio, DiMauro, Salvatore
出版事項 2009

MITOCHONDRIAL MYOPATHY WITH DYSTROPHIC FEATURES DUE TO A NOVEL MUTATION IN THE MTTM GENE

著者: PEVERELLI, LORENZO, GOLD, CARL A., NAINI, ALI B., TANJI, KURENAI, AKMAN, H. ORHAN, HIRANO, MICHIO, DIMAURO, SALVATORE
出版事項 2014

Slowly Progressive Encephalopathy with Hearing Loss Due to a Mutation in the mtDNA tRNA(Leu(CUN)) Gene

著者: Çoku, Jorida, Shanske, Sara, Mehrazin, Mahsa, Tanji, Kurenai, Naini, Ali, Emmanuele, Valentina, Patterson, Marc, Hirano, Michio, DiMauro, Salvatore
出版事項 2009

A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease

著者: Area-Gomez, Estela, de Groof, Ad, Bonilla, Eduardo, Montesinos, Jorge, Tanji, Kurenai, Boldogh, Istvan, Pon, Liza, Schon, Eric A.
出版年 Cell Death Dis (2018)

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

著者: Garone, Caterina, Rubio, Juan Carlos, Calvo, Sarah E., Naini, Ali, Tanji, Kurenai, DiMauro, Salvatore, Mootha, Vamsi K., Hirano, Michio
出版事項 2012

Recurrent Myoglobinuria in a Sporadic Patient with a Novel Mitochondrial DNA tRNA(Ile) Mutation

著者: Emmanuele, Valentina, Sotiriou, Evangelia, Shirazi, Maryam, Tanji, Kurenai, Haller, Ronald G., Heinicke, Katja, Bosch, Peter E., Hirano, Michio, DiMauro, Salvatore
出版事項 2011

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

著者: Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
出版事項 2014

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy

著者: Garcia-Diaz, Beatriz, Garone, Caterina, Barca, Emanuele, Mojahed, Hamed, Gutierrez, Purification, Pizzorno, Giuseppe, Tanji, Kurenai, Arias-Mendoza, Fernando, Quinzii, Caterina M., Hirano, Michio
出版事項 2014

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth

著者: Shin, Ji-Yeon, Méndez-López, Iván, Hong, Mingi, Wang, Yuexia, Tanji, Kurenai, Wu, Wei, Shugol, Leana, Krauss, Robert S., Dauer, William T., Worman, Howard J.
出版年 Hum Mol Genet (2017)

Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene

著者: Ríos, Purificacion Gutiérrez, Kalra, Arun A., Wilson, Jon D., Tanji, Kurenai, Akman, Hasan O., Gómez, Estela Area, Schon, Eric A., DiMauro, Salvatore
出版年 Arch Neurol (2012)

Lamina-associated Polypeptide-1 Interacts with the Muscular Dystrophy Protein Emerin and is Essential for Skeletal Muscle Maintenance

著者: Shin, Ji-Yeon, Méndez-López, Iván, Wang, Yuexia, Hays, Arthur P., Tanji, Kurenai, Lefkowitch, Jay H., Schulze, P. Christian, Worman, Howard J., Dauer, William T.
出版事項 2013

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice

著者: Kubota, Akatsuki, Juanola-Falgarona, Martí, Emmanuele, Valentina, Sanchez-Quintero, Maria Jose, Kariya, Shingo, Sera, Fusako, Homma, Shunichi, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
出版年 Hum Mol Genet (2019)