Walking With Meaning: Subjective Experiences of Physical Activity in Dementia

por McDuff, Jennifer, Phinney, Alison
Publicado 2015

Satisfaction of General Versus Specialized Continuity Clinic in Hematology Oncology Fellowship Training: A Survey

por Ilyas, Sama, Murphy, Martina, Duff, Jennifer, Close, Julia
Publicado 2021

Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson’s disease

por Carbutt, Sophia, Duff, Jennifer, Yarnall, Alison, Burn, David J., Hudson, Gavin
Publicado 2015

Implementation of a mock root cause analysis to provide simulated patient safety training

por Murphy, Martina, Duff, Jennifer, Whitney, Julie, Canales, Benjamin, Markham, Merry-Jennifer, Close, Julia
Publicado 2017

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

por Bansagi, Boglarka, Griffin, Helen, Ramesh, Venkateswaran, Duff, Jennifer, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Publicado 2015

Perspectives on death and dying: a study of resident comfort with End-of-life care

por Schmit, Jessica M., Meyer, Lynne E., Duff, Jennifer M., Dai, Yunfeng, Zou, Fei, Close, Julia L.
Publicado 2016

Phenotypic convergence of Menkes and Wilson disease

por Bansagi, Boglarka, Lewis-Smith, David, Pal, Endre, Duff, Jennifer, Griffin, Helen, Pyle, Angela, Müller, Juliane S., Rudas, Gabor, Aranyi, Zsuzsanna, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita
Publicado 2016

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

por Trifunov, Selena, Pyle, Angela, Valentino, Maria Lucia, Liguori, Rocco, Yu-Wai-Man, Patrick, Burté, Florence, Duff , Jennifer, Kleinle, Stephanie, Diebold, Isabel, Rugolo, Michela, Horvath, Rita, Carelli, Valerio
Publicado 2018

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

por Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.
Publicado 2014

Exome sequencing in undiagnosed inherited and sporadic ataxias

por Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F.
Publicado 2015

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

por Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita
Publicado 2018

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

por Lewis-Smith, David, Kamer, Kimberli J., Griffin, Helen, Childs, Anne-Marie, Pysden, Karen, Titov, Denis, Duff, Jennifer, Pyle, Angela, Taylor, Robert W., Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Mootha, Vamsi K., Chinnery, Patrick F.
Publicado 2016

Genetic heterogeneity of motor neuropathies

por Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G., Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita
Publicado 2017

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

por Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R., O'Sullivan, Julia, Jennings, Matthew J., Whittaker, Roger G., Müller, Juliane S., Duff, Jennifer, Griffin, Helen, Miller, James A.L., Gorman, Grainne S., Lochmüller, Hanns, Chinnery, Patrick F., Roos, Andreas, Swan, Laura E., Horvath, Rita
Publicado 2018

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

por Connor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F., Maxwell, Patrick H.
Publicado 2017

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

por Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita
Publicado 2014

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

por Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Straub, Volker
Publicado 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

por Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Publicado 2020

Clinical presentation and proteomic signature of patients with TANGO2 mutations

por Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita
Publicado 2019

ESMO / ASCO Recommendations for a Global Curriculum in Medical Oncology Edition 2016

por Dittrich, Christian, Kosty, Michael, Jezdic, Svetlana, Pyle, Doug, Berardi, Rossana, Bergh, Jonas, El-Saghir, Nagi, Lotz, Jean-Pierre, Österlund, Pia, Pavlidis, Nicholas, Purkalne, Gunta, Awada, Ahmad, Banerjee, Susana, Bhatia, Smita, Bogaerts, Jan, Buckner, Jan, Cardoso, Fatima, Casali, Paolo, Chu, Edward, Close, Julia Lee, Coiffier, Bertrand, Connolly, Roisin, Coupland, Sarah, De Petris, Luigi, De Santis, Maria, de Vries, Elisabeth G E, Dizon, Don S, Duff, Jennifer, Duska, Linda R, Eniu, Alexandru, Ernstoff, Marc, Felip, Enriqueta, Fey, Martin F, Gilbert, Jill, Girard, Nicolas, Glaudemans, Andor W J M, Gopalan, Priya K, Grothey, Axel, Hahn, Stephen M, Hanna, Diana, Herold, Christian, Herrstedt, Jørn, Homicsko, Krisztian, Jones, Dennie V, Jost, Lorenz, Keilholz, Ulrich, Khan, Saad, Kiss, Alexander, Köhne, Claus-Henning, Kunstfeld, Rainer, Lenz, Heinz-Josef, Lichtman, Stuart, Licitra, Lisa, Lion, Thomas, Litière, Saskia, Liu, Lifang, Loehrer, Patrick J, Markham, Merry Jennifer, Markman, Ben, Mayerhoefer, Marius, Meran, Johannes G, Michielin, Olivier, Moser, Elizabeth Charlotte, Mountzios, Giannis, Moynihan, Timothy, Nielsen, Torsten, Ohe, Yuichiro, Öberg, Kjell, Palumbo, Antonio, Peccatori, Fedro Alessandro, Pfeilstöcker, Michael, Raut, Chandrajit, Remick, Scot C, Robson, Mark, Rutkowski, Piotr, Salgado, Roberto, Schapira, Lidia, Schernhammer, Eva, Schlumberger, Martin, Schmoll, Hans-Joachim, Schnipper, Lowell, Sessa, Cristiana, Shapiro, Charles L, Steele, Julie, Sternberg, Cora N, Stiefel, Friedrich, Strasser, Florian, Stupp, Roger, Sullivan, Richard, Tabernero, Josep, Travado, Luzia, Verheij, Marcel, Voest, Emile, Vokes, Everett, Von Roenn, Jamie, Weber, Jeffrey S, Wildiers, Hans, Yarden, Yosef
Publicado 2016