Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

af Manea, Emanuela, Gissen, Paul, Pope, Simon, Heales, Simon J., Batzios, Spyros
Udgivet i JIMD Rep (2017)

The large-conductance Ca(2+)-activated K(+) channel is essential for innate immunity

af Ahluwalia, Jatinder, Tinker, Andrew, Clapp, Lucie H., Duchen, Michael R., Abramov, Andrey Y., Pope, Simon, Nobles, Muriel, Segal, Anthony W.
Udgivet 2004

Low CSF 5-HIAA in Myoclonus Dystonia

af Peall, Kathryn J, Ng, Joanne, Dy, Marisela E, Sharma, Nutan, Pope, Simon, Heales, Simon, Friedman, Jennifer R., Kurian, Manju A
Udgivet i Mov Disord (2017)

Advances in methods to analyse cardiolipin and their clinical applications

af Bautista, Javier S., Falabella, Micol, Flannery, Padraig J., Hanna, Michael G., Heales, Simon J.R., Pope, Simon A.S., Pitceathly, Robert D.S.
Udgivet i Trends Analyt Chem (2022)

Spectroscopic and Theoretical Investigation of Color Tuning in Deep-Red Luminescent Iridium(III) Complexes

af Stonelake, Thomas M., Phillips, Kaitlin A., Otaif, Haleema Y., Edwardson, Zachary C., Horton, Peter N., Coles, Simon J., Beames, Joseph M., Pope, Simon J. A.
Udgivet i Inorg Chem (2020)

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease()

af Dunn, Laura, Allen, George FG., Mamais, Adamantios, Ling, Helen, Li, Abi, Duberley, Kate E., Hargreaves, Iain P., Pope, Simon, Holton, Janice L., Lees, Andrew, Heales, Simon J., Bandopadhyay, Rina
Udgivet 2014

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

af Bugiardini, Enrico, Pope, Simon, Feichtinger, René G., Poole, Olivia V., Pittman, Alan M., Woodward, Cathy E., Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A., Hanna, Michael G., Pitceathly, Robert D.S.
Udgivet i J Clin Med (2019)

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

af Kinghorn, Kerri J., Castillo-Quan, Jorge Iván, Bartolome, Fernando, Angelova, Plamena R., Li, Li, Pope, Simon, Cochemé, Helena M., Khan, Shabana, Asghari, Shabnam, Bhatia, Kailash P., Hardy, John, Abramov, Andrey Y., Partridge, Linda
Udgivet i Brain (2015)

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

af Parviainen, Lotta, Dihanich, Sybille, Anderson, Greg W., Wong, Andrew M., Brooks, Helen R., Abeti, Rosella, Rezaie, Payam, Lalli, Giovanna, Pope, Simon, Heales, Simon J., Mitchison, Hannah M., Williams, Brenda P., Cooper, Jonathan D.
Udgivet i Acta Neuropathol Commun (2017)

Targeted cell imaging properties of a deep red luminescent iridium(iii) complex conjugated with a c-Myc signal peptide

af Day, Adam H., Übler, Martin H., Best, Hannah L., Lloyd-Evans, Emyr, Mart, Robert J., Fallis, Ian A., Allemann, Rudolf K., Al-Wattar, Eman A. H., Keymer, Nathaniel I., Buurma, Niklaas J., Pope, Simon J. A.
Udgivet i Chem Sci (2020)

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

af Kasperavičiūtė, Dalia, Catarino, Claudia B., Chinthapalli, Krishna, Clayton, Lisa M. S., Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A., Lench, Nicholas, Koltzenburg, Martin, Duncan, John S., Hammond, Peter, Hennekam, Raoul C. M., Land, John M., Sisodiya, Sanjay M.
Udgivet 2011

Coenzyme Q(10) and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

af Yubero, Dèlia, Montero, Raquel, O’Callaghan, Mar, Pineda, Mercè, Meavilla, Silvia, Delgadillo, Veronica, Sierra, Cristina, Altimira, Laura, Navas, Plácido, Pope, Simon, Oppenheim, Marcus, Neergheen, Viruna, Ghosh, Arunabha, Mills, Phillipa, Clayton, Peter, Footitt, Emma, Cleary, Maureen, Hargreaves, Iain, Jones, Simon A., Heales, Simon, Artuch, Rafael
Udgivet i JIMD Rep (2015)

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B(6)-Dependent Epilepsy

af Darin, Niklas, Reid, Emma, Prunetti, Laurence, Samuelsson, Lena, Husain, Ralf A., Wilson, Matthew, El Yacoubi, Basma, Footitt, Emma, Chong, W.K., Wilson, Louise C., Prunty, Helen, Pope, Simon, Heales, Simon, Lascelles, Karine, Champion, Mike, Wassmer, Evangeline, Veggiotti, Pierangelo, de Crécy-Lagard, Valérie, Mills, Philippa B., Clayton, Peter T.
Udgivet i Am J Hum Genet (2016)

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

af Hansen, Freja H., Skjørringe, Tina, Yasmeen, Saiqa, Arends, Natascha V., Sahai, Michelle A., Erreger, Kevin, Andreassen, Thorvald F., Holy, Marion, Hamilton, Peter J., Neergheen, Viruna, Karlsborg, Merete, Newman, Amy H., Pope, Simon, Heales, Simon J.R., Friberg, Lars, Law, Ian, Pinborg, Lars H., Sitte, Harald H., Loland, Claus, Shi, Lei, Weinstein, Harel, Galli, Aurelio, Hjermind, Lena E., Møller, Lisbeth B., Gether, Ulrik
Udgivet 2014

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

af Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, Houlden, Henry
Udgivet i Brain (2017)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

af Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Udgivet i Orphanet J Rare Dis (2020)

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

af Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Udgivet i Orphanet J Rare Dis (2020)

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

af Ng, Joanne, Barral, Serena, De La Fuente Barrigon, Carmen, Lignani, Gabriele, Erdem, Fatma A., Wallings, Rebecca, Privolizzi, Riccardo, Rossignoli, Giada, Alrashidi, Haya, Heasman, Sonja, Meyer, Esther, Ngoh, Adeline, Pope, Simon, Karda, Rajvinder, Perocheau, Dany, Baruteau, Julien, Suff, Natalie, Diaz, Juan Antinao, Schorge, Stephanie, Vowles, Jane, Marshall, Lucy R., Cowley, Sally A., Sucic, Sonja, Freissmuth, Michael, Counsell, John R., Wade-Martins, Richard, Heales, Simon J.R., Rahim, Ahad A., Bencze, Maximilien, Waddington, Simon N., Kurian, Manju A.
Udgivet i Sci Transl Med (2021)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

af Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry
Udgivet i Ann Neurol (2019)