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

por Dardis, Christopher, Antezana, Ariel, Tanji, Kurenai, Maccabee, Paul
Publicado 2017

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

por Zanazzi, George, Arshad, Muhammad, Maurer, Mathew S., Brannagan, Thomas H., Tanji, Kurenai
Publicado 2019

GYG1: A distal myopathy with polyglucosan bodies

por Nicolau, Stefan, Tracy, Jennifer A., Pisapia, David J., Tanji, Kurenai, Milone, Margherita
Publicado 2020

Evidence of Cardiac Involvement in a Patient With Necrotizing Autoimmune Myopathy (NAM)

por Khan, Omair A, Wilches, Rita M, Mehrabi, Joseph N, Tanji, Kurenai, Konka, Sarita
Publicado 2023

Peripheral neurological complications during COVID-19: A single center experience

por Michaelson, Nara Miriam, Malhotra, Ashwin, Wang, Zehui, Heier, Linda, Tanji, Kurenai, Wolfe, Scott, Gupta, Alka, MacGowan, Daniel
Publicado 2022

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

por Area-Gomez, Estela, de Groof, Ad, Bonilla, Eduardo, Montesinos, Jorge, Tanji, Kurenai, Boldogh, Istvan, Pon, Liza, Schon, Eric A.
Publicado 2018

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

por Garone, Caterina, Garcia-Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio
Publicado 2014

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

por Lopez-Gomez, Carlos, Hewan, Henly, Sierra, Carlos, Akman, Hasan O., Sanchez-Quintero, Maria J., Juanola-Falgarona, Marti, Tadesse, Saba, Tanji, Kurenai, Konofagou, Elisa E., Hirano, Michio
Publicado 2019

Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography

por Siegmund, Stephanie E., Grassucci, Robert, Carter, Stephen D., Barca, Emanuele, Farino, Zachary J., Juanola-Falgarona, Martí, Zhang, Peijun, Tanji, Kurenai, Hirano, Michio, Schon, Eric A., Frank, Joachim, Freyberg, Zachary
Publicado 2018

Aberrant Zip14 expression in muscle is associated with cachexia in a Bard1‐deficient mouse model of breast cancer metastasis

por Shakri, Ahmad Rushdi, James Zhong, Timothy, Ma, Wanchao, Coker, Courtney, Hegde, Rohaan, Scholze, Hanna, Chin, Vanessa, Szabolcs, Matthias, Hibshoosh, Hanina, Tanji, Kurenai, Baer, Richard, Kumar Biswas, Anup, Acharyya, Swarnali
Publicado 2020

Pathogenic role of delta 2 tubulin in bortezomib-induced peripheral neuropathy

por Pero, Maria Elena, Meregalli, Cristina, Qu, Xiaoyi, Shin, Grace Ji-eun, Kumar, Atul, Shorey, Matthew, Rolls, Melissa M., Tanji, Kurenai, Brannagan, Thomas H., Alberti, Paola, Fumagalli, Giulia, Monza, Laura, Grueber, Wesley B., Cavaletti, Guido, Bartolini, Francesca
Publicado 2021

Upregulation of ZIP14 and Altered Zinc Homeostasis in Muscles in Pancreatic Cancer Cachexia

por Shakri, Ahmad Rushdi, Zhong, Timothy James, Ma, Wanchao, Coker, Courtney, Kim, Sean, Calluori, Stephanie, Scholze, Hanna, Szabolcs, Matthias, Caffrey, Thomas, Grandgenett, Paul M., Hollingsworth, Michael A., Tanji, Kurenai, Kluger, Michael D., Miller, George, Biswas, Anup Kumar, Acharyya, Swarnali
Publicado 2019

Metastatic cancers promote cachexia through altered zinc homeostasis in skeletal muscle

por Wang, Gang, Biswas, Anup K., Ma, Wanchao, Kandpal, Manoj, Coker, Courtney, Grandgenett, Paul M., Hollingsworth, Michael A., Jain, Rinku, Tanji, Kurenai, Lόpez-Pintado, Sara, Borczuk, Alain, Hebert, Doreen, Jenkitkasemwong, Supak, Hojyo, Shintaro, Davuluri, Ramana, Knutson, Mitchell D., Fukada, Toshiyuki, Acharyya, Swarnali
Publicado 2018

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

por Grunseich, Christopher, Sarkar, Nathan, Lu, Joyce, Owen, Mallory, Schindler, Alice, Calabresi, Peter A, Sumner, Charlotte J, Roda, Ricardo H, Chaudhry, Vinay, Lloyd, Thomas E, Crawford, Thomas O, Subramony, S H, Oh, Shin J, Richardson, Perry, Tanji, Kurenai, Kwan, Justin Y, Fischbeck, Kenneth H, Mankodi, Ami
Publicado 2021

Neuronophagia and microglial nodules in a SARS-CoV-2 patient with cerebellar hemorrhage

por Al-Dalahmah, Osama, Thakur, Kiran T., Nordvig, Anna S., Prust, Morgan L., Roth, William, Lignelli, Angela, Uhlemann, Anne-Catrin, Miller, Emily Happy, Kunnath-Velayudhan, Shajo, Del Portillo, Armando, Liu, Yang, Hargus, Gunnar, Teich, Andrew F., Hickman, Richard A., Tanji, Kurenai, Goldman, James E., Faust, Phyllis L., Canoll, Peter
Publicado 2020

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

por Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, GC, Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Gráinne S., Bonnen, Penelope E., Taylor, Robert W., Hirano, Michio
Publicado 2022

COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital

por Thakur, Kiran T, Miller, Emily Happy, Glendinning, Michael D, Al-Dalahmah, Osama, Banu, Matei A, Boehme, Amelia K, Boubour, Alexandra L, Bruce, Samuel S, Chong, Alexander M, Claassen, Jan, Faust, Phyllis L, Hargus, Gunnar, Hickman, Richard A, Jambawalikar, Sachin, Khandji, Alexander G, Kim, Carla Y, Klein, Robyn S, Lignelli-Dipple, Angela, Lin, Chun-Chieh, Liu, Yang, Miller, Michael L, Moonis, Gul, Nordvig, Anna S, Overdevest, Jonathan B, Prust, Morgan L, Przedborski, Serge, Roth, William H, Soung, Allison, Tanji, Kurenai, Teich, Andrew F, Agalliu, Dritan, Uhlemann, Anne-Catrin, Goldman, James E, Canoll, Peter
Publicado 2021

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

por Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
Publicado 2015