Walking With Meaning: Subjective Experiences of Physical Activity in Dementia

Por McDuff, Jennifer, Phinney, Alison
Publicado no Glob Qual Nurs Res (2015)

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 no Neurosci Lett (2015)

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 no Brain (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 no BMC Med Educ (2016)

SCP2 mutations and neurodegeneration with brain iron accumulation

Por Horvath, Rita, Lewis-Smith, David, Douroudis, Konstantinos, Duff, Jennifer, Keogh, Michael, Pyle, Angela, Fletcher, Nicholas, Chinnery, Patrick F.
Publicado no Neurology (2015)

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation

Por Pyle, Angela, Griffin, Helen, Duff, Jennifer, Zwolinski, Simon, Smertenko, Tania, Yu-Wai-Man, Patrick, Santibanez-Koref, Mauro, Horvath, Rita, Chinnery, Patrick F.
Publicado em 2013

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 no Neurol Genet (2016)

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 no Genet Med (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 no Brain (2015)

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 no Neurol Genet (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 no Neurology (2017)

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 no PLoS Genet (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 no J Neuromuscul Dis (2014)

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 no ESMO Open (2016)