Abnormal peripheral chemokine profile in Huntington’s disease

por Wild, Edward, Magnusson, Anna, Lahiri, Nayana, Krus, Ulrika, Orth, Michael, Tabrizi, Sarah J, Björkqvist, Maria
Publicado 2011

Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data

por Marullo, Manuela, Zuccato, Chiara, Mariotti, Caterina, Lahiri, Nayana, Tabrizi, Sarah J, Di Donato, Stefano, Cattaneo, Elena
Publicado 2010

Stability of white matter changes related to Huntington’s disease in the presence of imaging noise: a DTI study

por Müller, Hans-Peter, Glauche, Volkmar, Novak, Marianne J U, Nguyen-Thanh, Thao, Unrath, Alexander, Lahiri, Nayana, Read, Joy, Say, Miranda Julia, Tabrizi, Sarah J, Kassubek, Jan, Kloppel, Stefan
Publicado 2011

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

por Perrino, Peter A., Talbot, Lidiya, Kirkland, Rose, Hill, Amanda, Rendall, Amanda R., Mountford, Hayley S., Taylor, Jenny, Buscarello, Alexzandrea N., Lahiri, Nayana, Saggar, Anand, Fitch, R. Holly, Newbury, Dianne F.
Publicado 2020

Brain-Derived Neurotrophic Factor in Patients with Huntington's Disease

por Zuccato, Chiara, Marullo, Manuela, Vitali, Barbara, Tarditi, Alessia, Mariotti, Caterina, Valenza, Marta, Lahiri, Nayana, Wild, Edward J., Sassone, Jenny, Ciammola, Andrea, Bachoud-Lèvi, Anne Catherine, Tabrizi, Sarah J., Di Donato, Stefano, Cattaneo, Elena
Publicado 2011

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

por Björkqvist, Maria, Wild, Edward J., Thiele, Jenny, Silvestroni, Aurelio, Andre, Ralph, Lahiri, Nayana, Raibon, Elsa, Lee, Richard V., Benn, Caroline L., Soulet, Denis, Magnusson, Anna, Woodman, Ben, Landles, Christian, Pouladi, Mahmoud A., Hayden, Michael R., Khalili-Shirazi, Azadeh, Lowdell, Mark W., Brundin, Patrik, Bates, Gillian P., Leavitt, Blair R., Möller, Thomas, Tabrizi, Sarah J.
Publicado 2008

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

por Martin-Geary, Alexandra C, Blakes, Alexander J M, Dawes, Ruebena, Findlay, Scott D, Lord, Jenny, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N, Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G E L, Anderson, Emily R, Burge, Christopher B., Sanders, Stephan J, Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Publicado 2023

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado 2019

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

por Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena
Publicado 2021

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

por Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Publicado 2020