Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

af Saxon, Jennifer A, Thompson, Jennifer C, Harris, Jennifer M, Richardson, Anna M, Langheinrich, Tobias, Rollinson, Sara, Pickering-Brown, Stuart, Chaouch, Amina, Ealing, John, Hamdalla, Hisham, Young, Carolyn A, Blackburn, Dan, Majeed, Tahir, Gall, Claire, Jones, Matthew, Snowden, Julie S
Udgivet i J Neurol Neurosurg Psychiatry (2020)

Two recurrent mutations are associated with GNE myopathy in the North of Britain

af Chaouch, Amina, Brennan, Kathryn M, Hudson, Judith, Longman, Cheryl, McConville, Jon, Morrisson, Patrick J, Farrugia, Maria E, Petty, Richard, Stewart, Willie, Norwood, Fiona, Horvath, Rita, Chinnery, Patrick F, Costigan, Donald, Winer, John, Polvikoski, Tuomo, Healey, Estelle, Sarkozy, Anna, Guglieri, Michela, Evangelista, Teresinha, Pogoryelova, Oksana, Eagle, Michelle, Bushby, Kate, Straub, Volker, Lochmüller, Hanns
Udgivet i J Neurol Neurosurg Psychiatry (2014)

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

af Ayoglu, Burcu, Chaouch, Amina, Lochmüller, Hanns, Politano, Luisa, Bertini, Enrico, Spitali, Pietro, Hiller, Monika, Niks, Eric H, Gualandi, Francesca, Pontén, Fredrik, Bushby, Kate, Aartsma-Rus, Annemieke, Schwartz, Elena, Le Priol, Yannick, Straub, Volker, Uhlén, Mathias, Cirak, Sebahattin, ‘t Hoen, Peter A C, Muntoni, Francesco, Ferlini, Alessandra, Schwenk, Jochen M, Nilsson, Peter, Al-Khalili Szigyarto, Cristina
Udgivet 2014

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

af van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclaude, Véronique, Claustres, Mireille, Scotton, Chiara, Passarelli, Chiara, Lochmüller, Hanns, Muntoni, Francesco, Tuffery-Giraud, Sylvie, Ferlini, Alessandra, Aartsma-Rus, Annemieke M, Verschuuren, Jan J G M, 't Hoen, Peter AC, Spitali, Pietro
Udgivet i J Neurol Neurosurg Psychiatry (2015)

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

af Chaouch, Amina, Porcelli, Vito, Cox, Daniel, Edvardson, Shimon, Scarcia, Pasquale, De Grassi, Anna, Pierri, Ciro L., Cossins, Judith, Laval, Steven H., Griffin, Helen, Müller, Juliane S., Evangelista, Teresinha, Töpf, Ana, Abicht, Angela, Huebner, Angela, von der Hagen, Maja, Bushby, Kate, Straub, Volker, Horvath, Rita, Elpeleg, Orly, Palace, Jacqueline, Senderek, Jan, Beeson, David, Palmieri, Luigi, Lochmüller, Hanns
Udgivet i J Neuromuscul Dis (2014)

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

af Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Eka Suchiman, H., Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, ‘t Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke
Udgivet i Eur J Hum Genet (2020)