Outcome following subdural haemorrhages in infancy

Bằng Jayawant, Sandeep, Parr, Jeremy
Được phát hành 2007

Juvenile Myasthenia Gravis: A Paediatric Perspective

Bằng Finnis, Maria F., Jayawant, Sandeep
Được phát hành 2011

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

Bằng Rodríguez Cruz, Pedro M., Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A., Beeson, David
Xuất bản năm Neurology (2015)

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Bằng Rodríguez Cruz, Pedro M., Cossins, Judith, Cheung, Jonathan, Maxwell, Susan, Jayawant, Sandeep, Herbst, Ruth, Waithe, Dominic, Kornev, Alexandr P., Palace, Jacqueline, Beeson, David
Xuất bản năm Hum Mutat (2019)

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

Bằng Ladds, Emma, Whitney, Andrea, Dombi, Eszter, Hofer, Monika, Anand, Geetha, Harrison, Victoria, Fratter, Carl, Carver, Janet, Barbosa, Ines A., Simpson, Michael, Jayawant, Sandeep, Poulton, Joanna
Xuất bản năm Neurol Genet (2018)

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

Bằng Rodríguez Cruz, Pedro M., Al-Hajjar, Michal, Huda, Saif, Jacobson, Leslie, Woodhall, Mark, Jayawant, Sandeep, Buckley, Camilla, Hilton-Jones, David, Beeson, David, Vincent, Angela, Leite, Maria Isabel, Palace, Jacqueline
Xuất bản năm JAMA Neurol (2015)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Bằng Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Xuất bản năm Am J Hum Genet (2017)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Bằng Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Xuất bản năm Am J Hum Genet (2017)

Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protect...

Bằng Bourke, John P, Watson, Gillian, Muntoni, Francesco, Spinty, Stefan, Roper, Helen, Guglieri, Michela, Speed, Chris, McColl, Elaine, Chikermane, Ashish, Jayawant, Sandeep, Adwani, Satish, Willis, Tracey, Wilkinson, Jennifer, Bryant, Andrew, Chadwick, Thomas, Wood, Ruth, Bushby, Kate
Xuất bản năm BMJ Open (2018)

Muscle magnetic resonance imaging in congenital myasthenic syndromes

Bằng Finlayson, Sarah, Morrow, Jasper M., Rodriguez Cruz, Pedro M., Sinclair, Christopher D.J., Fischmann, Arne, Thornton, John S., Knight, Steve, Norbury, Ray, White, Mel, Al‐hajjar, Michal, Carboni, Nicola, Jayawant, Sandeep, Robb, Stephanie A., Yousry, Tarek A., Beeson, David, Palace, Jacqueline
Xuất bản năm Muscle Nerve (2016)

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Bằng Dombi, Eszter, Diot, Alan, Morten, Karl, Carver, Janet, Lodge, Tiffany, Fratter, Carl, Ng, Yi Shiau, Liao, Chunyan, Muir, Rebecca, Blakely, Emma L., Hargreaves, Iain, Al-Dosary, Mazhor, Sarkar, Gopa, Hickman, Simon J., Downes, Susan M., Jayawant, Sandeep, Yu-Wai-Man, Patrick, Taylor, Robert W., Poulton, Joanna
Xuất bản năm Neurology (2016)

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Bằng Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Xuất bản năm Am J Hum Genet (2015)

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Bằng Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Xuất bản năm Brain (2015)

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

Bằng Pagnamenta, Alistair T, Heemeryck, Pierre, Martin, Hilary C, Bosc, Christophe, Peris, Leticia, Uszynski, Ivy, Gory-Fauré, Sylvie, Couly, Simon, Deshpande, Charu, Siddiqui, Ata, Elmonairy, Alaa A, Jayawant, Sandeep, Murthy, Sarada, Walker, Ian, Loong, Lucy, Bauer, Peter, Vossier, Frédérique, Denarier, Eric, Maurice, Tangui, Barbier, Emmanuel L, Deloulme, Jean-Christophe, Taylor, Jenny C, Blair, Edward M, Andrieux, Annie, Moutin, Marie-Jo
Xuất bản năm Hum Mol Genet (2019)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Bằng Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Được phát hành 2013

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

Bằng Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Được phát hành 2012

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Bằng Rodríguez Cruz, Pedro M., Cossins, Judith, de Paula Estephan, Eduardo, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Xuất bản năm Brain (2019)

Retrospective natural history of thymidine kinase 2 deficiency

Bằng Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Xuất bản năm J Med Genet (2018)