Outcome following subdural haemorrhages in infancy

por Jayawant, Sandeep, Parr, Jeremy
Publicado 2007

Juvenile Myasthenia Gravis: A Paediatric Perspective

por Finnis, Maria F., Jayawant, Sandeep
Publicado 2011

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

por Rodríguez Cruz, Pedro M., Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A., Beeson, David
Publicado en Neurology (2015)

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

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

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

por 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
Publicado en Neurol Genet (2018)

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

por 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
Publicado en JAMA Neurol (2015)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por 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.
Publicado en Am J Hum Genet (2017)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

por 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.
Publicado en 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...

por 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
Publicado en BMJ Open (2018)

Muscle magnetic resonance imaging in congenital myasthenic syndromes

por 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
Publicado en Muscle Nerve (2016)

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

por 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
Publicado en Neurology (2016)

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

por 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
Publicado en Am J Hum Genet (2015)

De novo point mutations in patients diagnosed with ataxic cerebral palsy

por 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.
Publicado en Brain (2015)

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

por 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
Publicado en Hum Mol Genet (2019)

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

por 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
Publicado 2013

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

por 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.
Publicado 2012

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

por 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
Publicado en Brain (2019)

Retrospective natural history of thymidine kinase 2 deficiency

por 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
Publicado en J Med Genet (2018)