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Number of items: 135.

Article

Aflatounian, M; Smith, H; Farahani, F; Tofighi Naeem, A; Straatman-Iwanowska, A; Zoghi, S; Khatri, U; ... Rezaei, N; + view all Aflatounian, M; Smith, H; Farahani, F; Tofighi Naeem, A; Straatman-Iwanowska, A; Zoghi, S; Khatri, U; Tajdini, P; Fallahi, GH; Gissen, P; Rezaei, N; - view fewer (2016) Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. European Journal of Medical Genetics , 59 (4) pp. 237-239. 10.1016/j.ejmg.2016.01.005.

Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; Peet, AC; ... Taylor, RW; + view all Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; Peet, AC; Gissen, P; Goffrini, P; Ferrero, I; Wassmer, E; McFarland, R; Taylor, RW; - view fewer (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics , 49 (9) 569 -577. 10.1136/jmedgenet-2012-101146.

Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; ... Gandhi, S; + view all Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; Yapom, R; Little, D; Dolt, KS; Kunath, T; Devine, MJ; Gissen, P; Shchepinov, MS; Sylantyev, S; Pavlov, E; Klenerman, D; Abramov, AY; Gandhi, S; - view fewer (2020) Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell Death & Differentiation , 27 pp. 2781-2796. 10.1038/s41418-020-0542-z.

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Arno, G; Fiorentino, A; Ponitkos, N; Plagnol, V; Michaelides, M; Hardcastle, AJ; Cheetham, ME; Webster, AR; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arno, G; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P; - view fewer (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014.

Banushi, B; Forneris, F; Straatman-Iwanowska, A; Strange, A; Lyne, A-M; Rogerson, C; Burden, JJ; ... Gissen, P; + view all Banushi, B; Forneris, F; Straatman-Iwanowska, A; Strange, A; Lyne, A-M; Rogerson, C; Burden, JJ; Heywood, WE; Hanley, J; Doykov, I; Straatman, KR; Smith, H; Bem, D; Kriston-Vizi, J; Ariceta, G; Risteli, M; Wang, C; Ardill, RE; Zaniew, M; Latka-Grot, J; Waddington, SN; Howe, SJ; Ferraro, F; Gjinovci, A; Lawrence, S; Marsh, M; Girolami, M; Bozec, L; Mills, K; Gissen, P; - view fewer (2016) Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature Communications , 7 , Article 12111. 10.1038/ncomms12111.

Baruteau, J; Brunetti-Pierri, N; Gissen, P; (2024) Liver-directed gene therapy for inherited metabolic diseases. Journal of Inherited Metabolic Disease , 47 (1) pp. 9-21. 10.1002/jimd.12709.

Baruteau, J; Cunningham, SC; Yilmaz, BS; Perocheau, DP; Eaglestone, S; Burke, D; Thrasher, AJ; ... Gissen, P; + view all Baruteau, J; Cunningham, SC; Yilmaz, BS; Perocheau, DP; Eaglestone, S; Burke, D; Thrasher, AJ; Waddington, SN; Lisowski, L; Alexander, IE; Gissen, P; - view fewer (2021) Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys. Molecular Therapy - Methods & Clinical Development , 23 pp. 135-146. 10.1016/j.omtm.2021.09.005.

Baruteau, J; Diez-Fernandez, C; Lerner, S; Ranucci, G; Gissen, P; Dionisi-Vici, C; Nagamani, S; ... Häberle, J; + view all Baruteau, J; Diez-Fernandez, C; Lerner, S; Ranucci, G; Gissen, P; Dionisi-Vici, C; Nagamani, S; Erez, A; Häberle, J; - view fewer (2019) Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. Journal of Inherited Metabolic Disease , 42 (6) pp. 1147-1161. 10.1002/jimd.12047.

Baruteau, J; Jameson, E; Morris, AA; Chakrapani, A; Santra, S; Vijay, S; Kocadag, H; ... Davison, JE; + view all Baruteau, J; Jameson, E; Morris, AA; Chakrapani, A; Santra, S; Vijay, S; Kocadag, H; Beesley, CE; Grunewald, S; Murphy, E; Cleary, M; Mundy, H; Abulhoul, L; Broomfield, A; Lachmann, R; Rahman, Y; Robinson, PH; MacPherson, L; Foster, K; Chong, WK; Ridout, DA; Bounford, KM; Waddington, SN; Mills, PB; Gissen, P; Davison, JE; - view fewer (2017) Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Journal of Inherited Metabolic Disease , 40 (3) pp. 357-368. 10.1007/s10545-017-0022-x.

Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; Footitt, E; Waddington, SN; Gissen, P; Mills, P; - view fewer (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275.

Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; ... Waddington, SN; + view all Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; Suff, N; Diaz, JA; Rahim, AA; Hughes, MP; Banushi, B; Prunty, H; Hristova, M; Ridout, DA; Virasami, A; Heales, S; Howe, SJ; Buckley, SMK; Mills, PB; Gissen, P; Waddington, SN; - view fewer (2018) Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nature Communications , 9 (1) , Article 3505. 10.1038/s41467-018-05972-1.

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects. Journal of Inherited Metabolic Disease , 40 (4) pp. 497-517. 10.1007/s10545-017-0053-3.

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Delivering efficient liver-directed AAV-mediated gene therapy. Gene Therapy , 24 (5) pp. 263-264. 10.1038/gt.2016.90.

Baud, A; Heywood, WE; Little, D; Gissen, P; Mills, K; (2019) Preparation of iPSCs for Targeted Proteomic Analysis. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 131-139. 10.1007/978-1-4939-9477-9_11.

Baud, A; Little, D; Wen, TQ; Heywood, WE; Gissen, P; Mills, K; (2019) An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in iPSC-Derived Neuronal Cell Lines from Parkinson’s Disease Patients. Journal of Proteome Research , 18 (3) pp. 1198-1207. 10.1021/acs.jproteome.8b00831.

Baud, A; Wessely, F; Mazzacuva, F; McCormick, J; Camuzeaux, S; Heywood, WE; Little, D; ... Mills, K; + view all Baud, A; Wessely, F; Mazzacuva, F; McCormick, J; Camuzeaux, S; Heywood, WE; Little, D; Vowles, J; Tuefferd, M; Mosaku, O; Lako, M; Armstrong, L; Webber, C; Cader, MZ; Peeters, P; Gissen, P; Cowley, SA; Mills, K; - view fewer (2017) Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells. Analytical Chemistry , 89 (4) pp. 2440-2448. 10.1021/acs.analchem.6b04368.

Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; ... Aquilina, K; + view all Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; Mankad, K; Gaur, P; Varga, P; De Vita, E; Cooper, J; Hassell, J; Hacohen, Y; Hemingway, C; Clark, CA; Rahman, S; Gissen, P; Baruteau, J; Broomfield, A; Menzies, L; Davison, J; Footitt, E; Chakrapani, A; Aquilina, K; - view fewer (2025) Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment. Journal of Inherited Metabolic Disease , 48 (1) , Article e12828. 10.1002/jimd.12828.

Blundell, J; Frisson, S; Chakrapani, A; Gissen, P; Hendriksz, C; Vijay, S; Olson, A; (2018) Oculomotor abnormalities in children with Niemann-Pick type C. Molecular Genetics and Metabolism , 123 (2) pp. 159-168. 10.1016/j.ymgme.2017.11.004.

Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; ... Olson, A; + view all Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; Hendriksz, C; Olson, A; - view fewer (2018) Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. Cognitive Neuropsychology , 35 (3-4) pp. 120-147. 10.1080/02643294.2018.1443913.

Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; ... Geberhiwot, T; + view all Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; Jones, S; Santra, S; Crushell, E; Stampfer, M; Coll, MJ; Dawson, C; Mathieson, T; Green, J; Dardis, A; Bembi, B; Patterson, MC; Vanier, MT; Geberhiwot, T; - view fewer (2022) Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet Journal of Rare Diseases , 17 (1) , Article 51. 10.1186/s13023-022-02200-4.

Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; ... Martakis, Kyriakos; + view all Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H; Reichmannová, Stella; Schneider, Susanne A; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos; - view fewer (2024) Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C. New England Journal of Medicine , 390 (5) pp. 421-431. 10.1056/nejmoa2310151.

Bremova-Ertl, T; Claassen, J; Foltan, T; Gascon-Bayarri, J; Gissen, P; Hahn, A; Hassan, A; ... Schneider, SA; + view all Bremova-Ertl, T; Claassen, J; Foltan, T; Gascon-Bayarri, J; Gissen, P; Hahn, A; Hassan, A; Hennig, A; Jones, SA; Kolnikova, M; Martakis, K; Raethjen, J; Ramaswami, U; Sharma, R; Schneider, SA; - view fewer (2021) Efficacy and safety of N-acetyl-L-leucine in Niemann–Pick disease type C. Journal of Neurology 10.1007/s00415-021-10717-0. (In press).

Brunetti-Pierri, N; Gissen, P; (2022) A retrograde approach for liver gene transfer. Methods & Clinical Development , 27 pp. 488-490. 10.1016/j.omtm.2022.11.002.

Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; ... Moon, JC; + view all Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; McKenna, WJ; Pettit, S; Ho, CY; Muchir, A; Gissen, P; Elliott, PM; Moon, JC; - view fewer (2018) Lamin and the heart. Heart , 104 (6) pp. 468-479. 10.1136/heartjnl-2017-312338.

Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; ... Raymond, FL; + view all Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; Grozeva, D; Dewhurst, E; Malka, S; Plagnol, V; Penkett, C; Stirrups, K; Rizzo, R; Wright, G; Josifova, D; Bitner-Glindzicz, M; Scott, RH; Clement, E; Allen, L; Armstrong, R; Brady, AF; Carmichael, J; Chitre, M; Henderson, RHH; Hurst, J; MacLaren, RE; Murphy, E; Paterson, J; Rosser, E; Thompson, DA; Wakeling, E; Ouwehand, WH; Michaelides, M; Moore, AT; Webster, AR; Raymond, FL; - view fewer (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics , 100 (1) pp. 75-90. 10.1016/j.ajhg.2016.12.003.

Chen, Y-H; Eskandarpour, M; Gondrand, A; Zhang, X; Gu, R; Galatowicz, G; Lightman, SL; Chen, Y-H; Eskandarpour, M; Gondrand, A; Zhang, X; Gu, R; Galatowicz, G; Lightman, SL; Calder, VL; - view fewer (2020) Functionally distinct IFN-γ⁺ IL-17A⁺ Th cells in experimental autoimmune uveitis: T-cell heterogeneity, migration, and steroid response. European Journal of Immunology 10.1002/eji.202048616. (In press).

Choi, Minee L; Chappard, Alexandre; Singh, Bhanu P; Maclachlan, Catherine; Rodrigues, Margarida; Fedotova, Evgeniya I; Berezhnov, Alexey V; ... Gandhi, Sonia; + view all Choi, Minee L; Chappard, Alexandre; Singh, Bhanu P; Maclachlan, Catherine; Rodrigues, Margarida; Fedotova, Evgeniya I; Berezhnov, Alexey V; De, Suman; Peddie, Christopher J; Athauda, Dilan; Virdi, Gurvir S; Zhang, Weijia; Evans, James R; Wernick, Anna I; Zanjani, Zeinab Shadman; Angelova, Plamena R; Esteras, Noemi; Vinokurov, Andrey Y; Morris, Katie; Jeacock, Kiani; Tosatto, Laura; Little, Daniel; Gissen, Paul; Clarke, David J; Kunath, Tilo; Collinson, Lucy; Klenerman, David; Abramov, Andrey Y; Horrocks, Mathew H; Gandhi, Sonia; - view fewer (2022) Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity. Nature Neuroscience 10.1038/s41593-022-01140-3. (In press).

Chung, Gary Hong Chun; Lorvellec, Maëlle; Gissen, Paul; Pichaud, Franck; Burden, Jemima J; Stefan, Christopher J; (2022) The ultrastructural organization of endoplasmic reticulum-plasma membrane contacts is conserved in epithelial cells. Molecular Biology of the Cell 10.1091/mbc.E21-11-0534-T. (In press).

Cozmescu, CA; Gissen, P; (2021) Rab35 controls formation of luminal projections required for bile canalicular morphogenesis. Journal of Cell Biology , 220 (10) , Article e202108047. 10.1083/jcb.202108047.

Craven, Claudia L; Gissen, Paul; Bower, Rebecca; Lee, Laura; Aquilina, Kristian; Thompson, Dominic NP; (2022) A survival analysis of ventricular access devices for delivery of cerliponase alfa. Journal of Neurosurgery: Pediatrics , 29 (1) pp. 115-121. 10.3171/2021.7.PEDS21129.

Cunningham, Sharon C; van Dijk, Eva B; Zhu, Erhua; Sugden, Maya; Mandwie, Mawj; Siew, Susan; Devanapalli, Beena; ... Alexander, Ian E; + view all Cunningham, Sharon C; van Dijk, Eva B; Zhu, Erhua; Sugden, Maya; Mandwie, Mawj; Siew, Susan; Devanapalli, Beena; Tolun, Adviye Ayper; Klein, Anne; Wilson, Laurence; Aryamanesh, Nader; Gissen, Paul; Baruteau, Julien; Bhattacharya, Kaustuv; Alexander, Ian E; - view fewer (2023) Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies. Human Gene Therapy , 34 (17-18) pp. 917-926. 10.1089/hum.2023.011.

Dabbeek, J; Silva, V; Galasso, C; Smith, A; (2020) Probabilistic earthquake and flood loss assessment in the Middle East. International Journal of Disaster Risk Reduction , 49 , Article 101662. 10.1016/j.ijdrr.2020.101662.

Davison, JE; Davies, NP; Wilson, M; Sun, Y; Chakrapani, A; McKiernan, PJ; Walter, JH; ... Peet, AC; + view all Davison, JE; Davies, NP; Wilson, M; Sun, Y; Chakrapani, A; McKiernan, PJ; Walter, JH; Gissen, P; Peet, AC; - view fewer (2011) MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet Journal of Rare Diseases , 6 , Article 19. 10.1186/1750-1172-6-19.

Deas, E; Cremades, N; Angelova, PR; Ludtmann, MHR; Yao, Z; Chen, S; Horrocks, MH; ... Abramov, AY; + view all Deas, E; Cremades, N; Angelova, PR; Ludtmann, MHR; Yao, Z; Chen, S; Horrocks, MH; Banushi, B; Little, D; Devine, MJ; Gissen, P; Klenerman, D; Dobson, CM; Wood, NW; Gandhi, S; Abramov, AY; - view fewer (2016) Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease. Antioxidants & Redox Signaling , 24 (7) pp. 376-391. 10.1089/ars.2015.6343.

Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Baruteau, Julien; - view fewer (2024) Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation. Stem Cell Research , 76 , Article 103365. 10.1016/j.scr.2024.103365.

Eichler, Florian; Duncan, Christine N; Musolino, Patricia L; Lund, Troy C; Gupta, Ashish O; De Oliveira, Satiro; Thrasher, Adrian J; ... Williams, David A; + view all Eichler, Florian; Duncan, Christine N; Musolino, Patricia L; Lund, Troy C; Gupta, Ashish O; De Oliveira, Satiro; Thrasher, Adrian J; Aubourg, Patrick; Kühl, Jörn-Sven; Loes, Daniel J; Amartino, Hernan; Smith, Nicholas; Folloni Fernandes, Juliana; Sevin, Caroline; Sankar, Raman; Hussain, Shaun A; Gissen, Paul; Dalle, Jean-Hugues; Platzbecker, Uwe; Downey, Gerald F; McNeil, Elizabeth; Demopoulos, Laura; Dietz, Andrew C; Thakar, Himal L; Orchard, Paul J; Williams, David A; - view fewer (2024) Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy. New England Journal of Medicine , 391 (14) pp. 1302-1312. 10.1056/NEJMoa2400442.

Eichler, F; Duncan, C; Musolino, PL; Orchard, PJ; De Oliveira, S; Thrasher, AJ; Armant, M; ... Williams, DA; + view all Eichler, F; Duncan, C; Musolino, PL; Orchard, PJ; De Oliveira, S; Thrasher, AJ; Armant, M; Dansereau, C; Lund, TC; Miller, WP; Raymond, GV; Sankar, R; Shah, AJ; Sevin, C; Gaspar, HB; Gissen, P; Amartino, H; Bratkovic, D; Smith, NJC; Paker, AM; Shamir, E; O'Meara, T; Davidson, D; Aubourg, P; Williams, DA; - view fewer (2017) Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. The New England Journal of Medicine , 377 pp. 1630-1638. 10.1056/NEJMoa1700554.

Engel, J; Schwartz, E; Catlow, CRA; Roldan, A; (2020) The influence of oxygen vacancy and Ce3+ ion positions on the properties of small gold clusters supported on CeO2-x(111). Journal of Materials Chemistry A , 8 (31) pp. 15695-15705. 10.1039/d0ta01398f.

Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; in't Veld, AH; Maw, A; Kelly, AM; Moore, A; Noordegraaf, AV; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, C-H; Bacchelli, C; Patch, C; Van Geet, C; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Dewhurst, E; Louka, E; Rosser, E; Chalmers, E; Colby, E; Drewe, E; McDermott, E; Thomas, E; Staples, E; Clement, E; Matthews, E; Wakeling, E; Oksenhendler, E; Turro, E; Reid, E; Wassmer, E; Raymond, FL; Hu, F; Kennedy, F; Soubrier, F; Flinter, F; Kovacs, G; Polwarth, G; Ambegaonkar, G; Arno, G; Hudson, G; Woods, G; Coghlan, G; Hayman, G; Arumugakani, G; Schotte, G; Cook, HT; Alachkar, H; Allen, HL; Lango-Allen, H; Stark, H; Stauss, H; Schulze, H; Boggard, HJ; Baxendale, H; Dolling, H; Firth, H; Gall, H; Watson, H; Longhurst, H; Markus, HS; Watkins, H; Simeoni, I; Emmerson, I; Roberts, I; Quinti, I; Wanjiku, I; Gibbs, JSR; Thaventhiran, J; Whitworth, J; Hurst, J; Collins, J; Suntharalingam, J; Payne, J; Thachil, J; Martin, JM; Martin, J; Carmichael, J; Maimaris, J; Paterson, J; Pepke-Zaba, J; Heemskerk, JWM; Gebhart, J; Davis, J; Pasi, J; Bradley, JR; Wharton, J; Stephens, J; Rankin, J; Anderson, J; Vogt, J; von Ziegenweldt, J; Rehnstrom, K; Megy, K; Talks, K; Peerlinck, K; Yates, K; Freson, K; Stirrups, K; Gomez, K; Smith, KGC; Carss, K; Rue-Albrecht, K; Gilmour, K; Masati, L; Scelsi, L; Southgate, L; Ranganathan, L; Ginsberg, L; Devlin, L; Willcocks, L; Ormondroyd, L; Lorenzo, L; Harper, L; Allen, L; Daugherty, L; Chitre, M; Kurian, M; Humbert, M; Tischkowitz, M; Bitner-Glindzicz, M; Erwood, M; Scully, M; Veltman, M; Caulfield, M; Layton, M; McCarthy, M; Ponsford, M; Toshner, M; Bleda, M; Wilkins, M; Mathias, M; Reilly, M; Afzal, M; Brown, M; Rondina, M; Stubbs, M; Haimel, M; Lees, M; Laffan, MA; Browning, M; Gattens, M; Richards, M; Michaelides, M; Lambert, MP; Makris, M; De Vries, M; Mahdi-Rogers, M; Saleem, M; Thomas, M; Holder, M; Eyries, M; Clements-Brod, N; Canham, N; Dormand, N; Van Zuydam, N; Kingston, N; Ghali, N; Cooper, N; Morrell, NW; Yeatman, N; Roy, N; Shamardina, O; Alavijeh, OS; Gresele, P; Nurden, P; Chinnery, P; Deegan, P; Yong, P; Yu-Wai-Man, P; Corris, PA; Calleja, P; Gissen, P; Bolton-Maggs, P; Rayner-Matthews, P; Ghataorhe, PK; Gordins, P; Stein, P; Collins, P; Dixon, P; Kelleher, P; Ancliff, P; Yu, P; Tait, RC; Linger, R; Doffinger, R; Machado, R; Kazmi, R; Sargur, R; Favier, R; Tan, R; Liesner, R; Antrobus, R; Sandford, R; Scott, R; Trembath, R; Horvath, R; Hadden, R; MackenzieRoss, RV; Henderson, R; MacLaren, R; James, R; Ghurye, R; DaCosta, R; Hague, R; Mapeta, R; Armstrong, R; Noorani, S; Murng, S; Santra, S; Tuna, S; Johnson, S; Chong, S; Lear, S; Walker, S; Goddard, S; Mangles, S; Westbury, S; Mehta, S; Hackett, S; Nejentsev, S; Moledina, S; Bibi, S; Meehan, S; Othman, S; Revel-Vilk, S; Holden, S; McGowan, S; Staines, S; Savic, S; Burns, S; Grigoriadou, S; Papadia, S; Ashford, S; Schulman, S; Ali, S; Park, S-M; Davies, S; Stock, S; Ali, S; Deevi, SVV; Graf, S; Ghio, S; Wort, SJ; Jolles, S; Austin, S; Welch, S; Meacham, S; Rankin, S; Walker, S; Seneviratne, S; Holder, S; Sivapalaratnam, S; Richardson, S; Kuijpers, T; Kuijpers, TW; Bariana, TK; Bakchoul, T; Everington, T; Renton, T; Young, T; Aitman, T; Warner, TQ; Vale, T; Hammerton, T; Pollock, V; Matser, V; Cookson, V; Clowes, V; Qasim, W; Wei, W; Erber, WN; Ouwehand, WH; Astle, W; Egner, W; Turek, W; Henskens, Y; Tan, Y; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0.

Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; Veld, AHIT; Maw, A; Kelly, AM; Moore, A; Vonk Noordegraaf, A; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, CH; Bacchelli, C; Patch, C; Geet, CV; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Furnell, A; Huissoon, A; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y.

Forny, P; Footitt, E; Davison, JE; Lam, A; Woodward, CE; Batzios, S; Bhate, S; ... Rahman, S; + view all Forny, P; Footitt, E; Davison, JE; Lam, A; Woodward, CE; Batzios, S; Bhate, S; Chakrapani, A; Cleary, M; Gissen, P; Grunewald, S; Hurst, JA; Scott, R; Heales, S; Jacques, TS; Cullup, T; Rahman, S; - view fewer (2021) Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Neurology: Genetics , 7 (3) , Article e597. 10.1212/nxg.0000000000000597.

Geberhiwot, T; Moro, A; Dardis, A; Ramaswami, U; Sirrs, S; Marfa, MP; Vanier, MT; ... Patterson, M; + view all Geberhiwot, T; Moro, A; Dardis, A; Ramaswami, U; Sirrs, S; Marfa, MP; Vanier, MT; Walterfang, M; Bolton, S; Dawson, C; Heron, B; Stampfer, M; Imrie, J; Hendriksz, C; Gissen, P; Crushell, E; Coll, MJ; Nadjar, Y; Kluenemann, H; Mengel, E; Hrebicek, M; Jones, SA; Ory, D; Bembi, B; Patterson, M; - view fewer (2018) Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases , 13 , Article 50. 10.1186/s13023-018-0785-7.

Gissen, P; Arias, IM; (2015) Structural and functional hepatocyte polarity and liver disease. Journal of Hepatology , 63 (4) pp. 1023-1037. 10.1016/j.jhep.2015.06.015.

Gissen, P; Specchio, N; Olaye, A; Jain, M; Butt, T; Ghosh, W; Ruban-Fell, B; ... Schulz, A; + view all Gissen, P; Specchio, N; Olaye, A; Jain, M; Butt, T; Ghosh, W; Ruban-Fell, B; Griffiths, A; Camp, C; Sisic, Z; Schwering, C; Wibbeler, E; Trivisano, M; Lee, L; Nickel, M; Mortensen, A; Schulz, A; - view fewer (2021) Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2). Orphanet Journal of Rare Diseases , 16 (1) , Article 217. 10.1186/s13023-021-01829-x.

Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL; Pressler, RM; Simpson, MA; Debelle, GD; Wassmer, E; Morton, J; Sieciechowicz, D; Jan-Kamsteeg, E; Paciorkowski, AR; King, MD; Cross, JH; Poduri, A; Mefford, HC; Scheffer, IE; Haack, TB; McCullagh, G; Millichap, JJ; Carvill, GL; Clayton-Smith, J; Maher, ER; Raymond, FL; Kurian, MA; - view fewer (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005.

Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; ... Gissen, P; + view all Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Mueller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P; - view fewer (2017) Autosomal Recessive Keratoderma-Ichthyosis- Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. JOURNAL OF INVESTIGATIVE DERMATOLOGY , 137 (4) pp. 845-854. 10.1016/j.jid.2016.12.010.

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; ... Baruteau, Julien; + view all Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo GV; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien; - view fewer (2023) The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. Journal of Inherited Metabolic Disease 10.1002/jimd.12691. (In press).

Hanley, J; Kumar Dhar, D; Mazzacuva, F; Fiadeiro, R; Burden, JJ; Lyne, AM; Smith, H; ... Gissen, P; + view all Hanley, J; Kumar Dhar, D; Mazzacuva, F; Fiadeiro, R; Burden, JJ; Lyne, AM; Smith, H; Straatman-Iwanowska, A; Banushi, B; Virasami, A; Mills, K; Lemaigre, FP; Knisely, AS; Howe, S; Sebire, N; Waddington, S; Paulusma, CC; Clayton, P; Gissen, P; - view fewer (2017) Vps33b is Crucial for Structural and Functional Hepatocyte Polarity. Journal of Hepatology , 66 (5) pp. 1001-1011. 10.1016/j.jhep.2017.01.001.

Heywood, WE; Camuzeaux, S; Doykov, I; Patel, N; Preece, RL; Footitt, E; Cleary, M; ... Mills, K; + view all Heywood, WE; Camuzeaux, S; Doykov, I; Patel, N; Preece, RL; Footitt, E; Cleary, M; Clayton, P; Grunewald, S; Abulhoul, L; Chakrapani, A; Sebire, NJ; Hindmarsh, P; De Koning, TJ; Heales, S; Burke, D; Gissen, P; Mills, K; - view fewer (2015) Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI. Analytical Chemistry , 87 (24) pp. 12238-12244. 10.1021/acs.analchem.5b03232.

Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; ... Rahman, S; + view all Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; Prabhakar, P; Kumaraguru, N; Gissen, P; Cross, JH; Jacques, TS; Taanman, J-W; Bindoff, LA; Rahman, S; - view fewer (2017) The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine , 19 (11) pp. 1217-1225. 10.1038/gim.2017.35.

Ibrahim, Majitha Seyed; Gold, Jessica I; Woodall, Alison; Yilmaz, Berna Seker; Gissen, Paul; Stepien, Karolina M; (2023) Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency. Children , 10 (8) , Article 1368. 10.3390/children10081368.

Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; ... Revel-Vilk, S; + view all Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Aitman, T; Bennett, D; Caulfield, M; Chinnery, P; Gale, D; Koziell, A; Kuijpers, TW; Laffan, MA; Maher, E; Markus, HS; Morrell, NW; Ouwehand, WH; Perry, DJ; Raymond, FL; Roberts, I; Smith, KGC; Thrasher, A; Watkins, H; Williamson, C; Woods, G; Ashford, S; Bradley, JR; Fletcher, D; Hammerton, T; James, R; Kingston, N; Penkett, CJ; Stirrups, K; Veltman, M; Young, T; Brown, M; Clements-Brod, N; Davis, J; Dewhurst, E; Dolling, H; Erwood, M; Frary, A; Linger, R; Martin, JM; Papadia, S; Rehnstrom, K; Stark, H; Allsup, D; Austin, S; Bakchoul, T; Bariana, TK; Bolton-Maggs, P; Chalmers, E; Collins, J; Collins, P; Erber, WN; Everington, T; Favier, R; Freson, K; Furie, B; Gattens, M; Gebhart, J; Gomez, K; Greene, D; Greinacher, A; Gresele, P; Hart, D; Heemskerk, JWM; Henskens, Y; Kazmi, R; Keeling, D; Kelly, AM; Lambert, MP; Lentaigne, C; Liesner, R; Makris, M; Mangles, S; Mathias, M; Millar, CM; Mumford, A; Nurden, P; Payne, J; Pasi, J; Peerlinck, K; Revel-Vilk, S; - view fewer (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics , 103 (1) pp. 144-153. 10.1016/j.ajhg.2018.06.001.

Iwan, K; Clayton, R; Mills, P; Csanyi, B; Gissen, P; Mole, SE; Palmer, DN; ... Heywood, WE; + view all Iwan, K; Clayton, R; Mills, P; Csanyi, B; Gissen, P; Mole, SE; Palmer, DN; Mills, K; Heywood, WE; - view fewer (2021) Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses. iScience , 4 (2) , Article 102020. 10.1016/j.isci.2020.102020.

Jeyaraj, R; Bounford, KM; Ruth, N; Lloyd, C; MacDonald, F; Hendriksz, CJ; Baumann, U; ... Kelly, D; + view all Jeyaraj, R; Bounford, KM; Ruth, N; Lloyd, C; MacDonald, F; Hendriksz, CJ; Baumann, U; Gissen, P; Kelly, D; - view fewer (2021) The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges. Genes , 12 (11) , Article 1837. 10.3390/genes12111837.

Johnson, B; Lowe, GC; Futterer, J; Lordkipanidze, M; MacDonald, D; Simpson, MA; Sanchez-Guiu, I; ... Morgan, NV; + view all Johnson, B; Lowe, GC; Futterer, J; Lordkipanidze, M; MacDonald, D; Simpson, MA; Sanchez-Guiu, I; Drake, S; Bem, D; Leo, V; Fletcher, SJ; Dawood, B; Rivera, J; Allsup, D; Biss, T; Bolton-Maggs, PHB; Collins, P; Curry, N; Grimley, C; James, B; Makris, M; Motwani, J; Pavord, S; Talks, K; Thachil, J; Wilde, J; Williams, M; Harrison, P; Gissen, P; Mundell, S; Mumford, A; Daly, ME; Watson, SP; Morgan, NV; - view fewer (2016) Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica , 101 (10) pp. 1170-1179. 10.3324/haematol.2016.146316.

Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; ... Rahim, AA; + view all Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; Baruteau, J; Gissen, P; Chan, JK; Bacchelli, C; Waddington, SN; Rahim, AA; - view fewer (2014) Perinatal systemic gene delivery using adeno-associated viral vectors. Front Mol Neurosci , 7 , Article 89. 10.3389/fnmol.2014.00089.

Kim, A; Grover, A; Hammon, K; de Hart, G; Slasor, P; Cherukuri, A; Ajayi, T; ... Henshaw, JW; + view all Kim, A; Grover, A; Hammon, K; de Hart, G; Slasor, P; Cherukuri, A; Ajayi, T; Jacoby, D; Schulz, A; Specchio, N; de Los Reyes, E; Gissen, P; Henshaw, JW; - view fewer (2020) Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration. Clinical and Translational Science 10.1111/cts.12925. (In press).

Little, D; Ketteler, R; Gissen, P; Devine, MJ; (2019) Using stem cell-derived neurons in drug screening for neurological diseases. Neurobiology of Aging , 78 pp. 130-141. 10.1016/j.neurobiolaging.2019.02.008.

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons. Methods in Molecular Biology , 1994 pp. 175-184. 10.1007/978-1-4939-9477-9_16.

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence. Methods in Molecular Biology , 1994 pp. 165-174. 10.1007/978-1-4939-9477-9_15.

Little, D; Luft, C; Mosaku, O; Lorvellec, M; Yao, Z; Paillusson, S; Kriston-Vizi, J; ... Gissen, P; + view all Little, D; Luft, C; Mosaku, O; Lorvellec, M; Yao, Z; Paillusson, S; Kriston-Vizi, J; Gandhi, S; Abramov, AY; Ketteler, R; Devine, MJ; Gissen, P; - view fewer (2018) A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA. Scientific Reports , 8 , Article 9033. 10.1038/s41598-018-27058-0.

Little, D; Luft, C; Pezzini-Picart, O; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates. Methods in Molecular Biology , 1994 pp. 159-164. 10.1007/978-1-4939-9477-9_14.

Lorvellec, M; Pellegata, AF; Maestri, A; Turchetta, C; Alvarez Mediavilla, E; Shibuya, S; Jones, B; ... Gissen, P; + view all Lorvellec, M; Pellegata, AF; Maestri, A; Turchetta, C; Alvarez Mediavilla, E; Shibuya, S; Jones, B; Scottoni, F; Perocheau, DP; Cozmescu, AC; Delhove, JM; Kysh, D; Gjinovci, A; Counsell, JR; Heywood, WE; Mills, K; McKay, TR; De Coppi, P; Gissen, P; - view fewer (2020) An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies. iScience , 23 (12) , Article 101808. 10.1016/j.isci.2020.101808.

Lorvellec, M; Scottoni, F; Crowley, C; Fiadeiro, R; Maghsoudlou, P; Pellegata, AF; Mazzacuva, F; ... Gissen, P; + view all Lorvellec, M; Scottoni, F; Crowley, C; Fiadeiro, R; Maghsoudlou, P; Pellegata, AF; Mazzacuva, F; Gjinovci, A; Lyne, A-M; Zulini, J; Little, D; Mosaku, O; Kelly, D; De Coppi, P; Gissen, P; - view fewer (2017) Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells. PLoS One , 12 (12) , Article e0189586. 10.1371/journal.pone.0189586.

Ludtmann, MHR; Angelova, PR; Horrocks, MH; Choi, ML; Rodrigues, M; Baev, AY; Berezhnov, AV; ... Gandhi, S; + view all Ludtmann, MHR; Angelova, PR; Horrocks, MH; Choi, ML; Rodrigues, M; Baev, AY; Berezhnov, AV; Yao, Z; Little, D; Banushi, B; Al-Menhali, AS; Ranasinghe, RT; Whiten, DR; Yapom, R; Dolt, KS; Devine, MJ; Gissen, P; Kunath, T; Jaganjac, M; Pavlov, EV; Klenerman, D; Abramov, AY; Gandhi, S; - view fewer (2018) α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson's disease. Nature Communications , 9 , Article 2293. 10.1038/s41467-018-04422-2.

Maghsoudlou, P; Georgiades, F; Smith, H; Milan, A; Shangaris, P; Urbani, L; Loukogeorgakis, SP; ... De Coppi, P; + view all Maghsoudlou, P; Georgiades, F; Smith, H; Milan, A; Shangaris, P; Urbani, L; Loukogeorgakis, SP; Lombardi, B; Mazza, G; Hagen, CK; Sebire, NJ; Turmaine, M; Eaton, S; Olivo, A; Godovac-Zimmermann, J; Pinzani, M; Gissen, P; De Coppi, P; - view fewer (2016) Optimization of liver decellularization maintains extracellular matrix micro-architecture and composition predisposing to effective cell seeding. PLOS One , 11 (5) , Article e0155324. 10.1371/journal.pone.0155324.

Manea, E; Gissen, P; Pope, S; Heales, SJ; Batzios, S; (2018) Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases. JIMD Reports , 39 pp. 7-12. 10.1007/8904_2017_39.

Massaro, G; Geard, AF; Liu, W; Coombe-Tennant, O; Waddington, SN; Baruteau, J; Gissen, P; Massaro, G; Geard, AF; Liu, W; Coombe-Tennant, O; Waddington, SN; Baruteau, J; Gissen, P; Rahim, AA; - view fewer (2021) Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development. Biomolecules , 11 (4) , Article 611. 10.3390/biom11040611.

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Clayton, P; Gissen, P; (2019) Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 141-147. 10.1007/978-1-4939-9477-9_12.

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Heywood, WE; Clayton, P; Gissen, P; (2019) Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 149-156. 10.1007/978-1-4939-9477-9_13.

Mazzacuva, F; Mills, P; Mills, K; Camuzeaux, S; Gissen, P; Nicoli, E-R; Wassif, C; ... Clayton, PT; + view all Mazzacuva, F; Mills, P; Mills, K; Camuzeaux, S; Gissen, P; Nicoli, E-R; Wassif, C; te Vruchte, D; Porter, FD; Maekawa, M; Mano, N; Iida, T; Platt, F; Clayton, PT; - view fewer (2016) Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. FEBS Letters , 590 (11) pp. 1651-1662. 10.1002/1873-3468.12196.

Messina, M; Gissen, P; (2023) Atidarsagene autotemcel for metachromatic leukodystrophy. Drugs of Today , 59 (2) pp. 63-70. 10.1358/dot.2023.59.2.3461911.

Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; Papandreou, A; Ng, J; Barral, S; Ngoh, A; Ben-Pazi, H; Willemsen, MA; Arkadir, D; Barnicoat, A; Bergman, H; Bhate, S; Boys, A; Darin, N; Foulds, N; Gutowski, N; Hills, A; Houlden, H; Hurst, JA; Israel, Z; Kaminska, M; Limousin, P; Lumsden, D; McKee, S; Misra, S; Mohammed, SS; Nakou, V; Nicolai, J; Nilsson, M; Pall, H; Peall, KJ; Peters, GB; Prabhakar, P; Reuter, MS; Rump, P; Segel, R; Sinnema, M; Smith, M; Turnpenny, P; White, SM; Wieczorek, D; Wiethoff, S; Wilson, BT; Winter, G; Wragg, C; Pope, S; Heales, SJ; Morrogh, D; UK10K Consortium, .; Deciphering Developmental Disorders Study, .; NIHR BioResource Rare Diseases Consortium, .; Pittman, A; Carr, LJ; Perez-Dueñas, B; Lin, JP; Reis, A; Gahl, WA; Toro, C; Bhatia, KP; Wood, NW; Kamsteeg, EJ; Chong, WK; Gissen, P; Topf, M; Dale, RC; Chubb, JR; Raymond, FL; Kurian, MA; - view fewer (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740.

Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; ... Clayton, PT; + view all Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT; - view fewer (2014) Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain , 137 (5) pp. 1350-1360. 10.1093/brain/awu051.

Modin, L; Ng, V; Gissen, P; Raiman, J; Pfister, ED; Das, A; Santer, R; ... Baumann, U; + view all Modin, L; Ng, V; Gissen, P; Raiman, J; Pfister, ED; Das, A; Santer, R; Faghfoury, H; Santra, S; Baumann, U; - view fewer (2021) A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. Children , 8 (9) , Article 819. 10.3390/children8090819.

Mohammad, SS; Angiti, RR; Biggin, A; Morales-Briceño, H; Goetti, R; Perez-Dueñas, B; Gregory, A; ... Basal Ganglia MRI Study Group; + view all Mohammad, SS; Angiti, RR; Biggin, A; Morales-Briceño, H; Goetti, R; Perez-Dueñas, B; Gregory, A; Hogarth, P; Ng, J; Papandreou, A; Bhattacharya, K; Rahman, S; Prelog, K; Webster, RI; Wassmer, E; Hayflick, S; Livingston, J; Kurian, M; Chong, WK; Dale, RC; Basal Ganglia MRI Study Group; - view fewer (2020) Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. Brain Communications , 2 (2) , Article fcaa178. 10.1093/braincomms/fcaa178.

Mole, Sara E; Gissen, Paul; Nordstrom, Shannon; Wait, Suzanne; Allen, Loise; Antonini, Mathilda; Brownnutt, Liz; ... Nightingale, Joanna; + view all Mole, Sara E; Gissen, Paul; Nordstrom, Shannon; Wait, Suzanne; Allen, Loise; Antonini, Mathilda; Brownnutt, Liz; Brown, Richard; Cole, Barbara; Gibbon, Frances; Henderson, Robert H; Kenrick, Sarah; Sisic, Zlatko; Thompson, Bob; Nightingale, Joanna; - view fewer (2025) Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom. Orphanet Journal of Rare Diseases , 20 , Article 223. 10.1186/s13023-025-03747-8.

Mole, SE; Schulz, A; Badoe, E; Berkovic, SF; de Los Reyes, EC; Dulz, S; Gissen, P; ... Williams, RE; + view all Mole, SE; Schulz, A; Badoe, E; Berkovic, SF; de Los Reyes, EC; Dulz, S; Gissen, P; Guelbert, N; Lourenco, CM; Mason, HL; Mink, JW; Murphy, N; Nickel, M; Olaya, JE; Scarpa, M; Scheffer, IE; Simonati, A; Specchio, N; Von Löbbecke, I; Wang, RY; Williams, RE; - view fewer (2021) Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet Journal of Rare Diseases , 16 (1) p. 185. 10.1186/s13023-021-01813-5.

Morfopoulou, Sofia; Buddle, Sarah; Montaguth, Oscar Enrique Torres; Atkinson, Laura; Guerra-Assunção, José Afonso; Marjaneh, Mahdi Moradi; Chiozzi, Riccardo Zenezini; ... Breuer, Judith; + view all Morfopoulou, Sofia; Buddle, Sarah; Montaguth, Oscar Enrique Torres; Atkinson, Laura; Guerra-Assunção, José Afonso; Marjaneh, Mahdi Moradi; Chiozzi, Riccardo Zenezini; Storey, Nathaniel; Campos, Luis; Hutchinson, J Ciaran; Counsell, John R; Pollara, Gabriele; Roy, Sunando; Venturini, Cristina; Antinao Diaz, Juan F; Siam, Ala'a; Tappouni, Luke J; Asgarian, Zeinab; Ng, Joanne; Hanlon, Killian S; Lennon, Alexander; McArdle, Andrew; Czap, Agata; Rosenheim, Joshua; Andrade, Catarina; Anderson, Glenn; Lee, Jack CD; Williams, Rachel; Williams, Charlotte A; Tutill, Helena; Bayzid, Nadua; Bernal, Luz Marina Martin; Macpherson, Hannah; Montgomery, Kylie-Ann; Moore, Catherine; Templeton, Kate; Neill, Claire; Holden, Matt; Gunson, Rory; Shepherd, Samantha J; Shah, Priyen; Cooray, Samantha; Voice, Marie; Steele, Michael; Fink, Colin; Whittaker, Thomas E; Santilli, Giorgia; Gissen, Paul; Kaufer, Benedikt B; Reich, Jana; Andreani, Julien; Simmonds, Peter; Alrabiah, Dimah K; Hereza, Sergi Castellano; Chikowore, Primrose; Odam, Miranda; Rampling, Tommy; Houlihan, Catherine; Hoschler, Katja; Talts, Tiina; Celma, Cristina; Gonzalez, Suam; Gallagher, Eileen; Simmons, Ruth; Watson, Conall; Mandal, Sema; Zambon, Maria; Chand, Meera; Hatcher, James; De, Surjo; Baillie, Kenneth; Semple, Malcolm Gracie; DIAMONDS Consortium, .; PERFORM Consortium, .; ISARIC Consortium, .; Martin, Joanne; Ushiro-Lumb, Ines; Noursadeghi, Mahdad; Deheragoda, Maesha; Hadzic, Nedim; Grammatikopoulos, Tassos; Brown, Rachel; Kelgeri, Chayarani; Thalassinos, Konstantinos; Waddington, Simon N; Jacques, Thomas S; Thomson, Emma; Levin, Michael; Brown, Julianne R; Breuer, Judith; - view fewer (2023) Genomic investigations of unexplained acute hepatitis in children. Nature 10.1038/s41586-023-06003-w. (In press).

Morgan, NV; Morris, MR; Cangul, H; Gleeson, D; Straatman-Iwanowska, A; Davies, N; Keenan, S; ... Maher, ER; + view all Morgan, NV; Morris, MR; Cangul, H; Gleeson, D; Straatman-Iwanowska, A; Davies, N; Keenan, S; Pasha, S; Rahman, F; Gentle, D; Vreeswijk, MPG; Devilee, P; Knowles, MA; Ceylaner, S; Trembath, RC; Dalence, C; Kismet, E; Koseoglu, V; Rossbach, HC; Gissen, P; Tannahill, D; Maher, ER; - view fewer (2010) Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease. PLoS Genetics , 6 (2) , Article e1000833. 10.1371/journal.pgen.1000833.

Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; Gissen, P; ... Teh, BT; + view all Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; Gissen, P; Wingenfeld, A; Hatzfeld, M; Klomp, JA; Teh, BT; - view fewer (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered rhoa signalling, epithelial polarization and cytokinesis. Human Molecular Genetics , 21 (24) 5268 - 5279. 10.1093/hmg/dds378.

Nickel, Miriam; Gissen, Paul; Greenaway, Rebecca; Cappelletti, Simona; Hamborg, Christiane; Ragni, Benedetta; Ribitzki, Tanja; ... Specchio, Nicola; + view all Nickel, Miriam; Gissen, Paul; Greenaway, Rebecca; Cappelletti, Simona; Hamborg, Christiane; Ragni, Benedetta; Ribitzki, Tanja; Schulz, Angela; Tondo, Ilaria; Specchio, Nicola; - view fewer (2023) Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? Neuropediatrics 10.1055/s-0043-1770143. (In press).

Ofrim, Marisa; Little, Daniel; Nazari, Mina; Minnis, Christopher J; Devine, Michael J; Mole, Sara E; Gissen, Paul; Ofrim, Marisa; Little, Daniel; Nazari, Mina; Minnis, Christopher J; Devine, Michael J; Mole, Sara E; Gissen, Paul; Lorvellec, Maëlle; - view fewer (2023) Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. Stem Cell Research , 74 , Article 103291. 10.1016/j.scr.2023.103291.

Paillusson, S; Gomez-Suaga, P; Stoica, R; Little, D; Gissen, P; Devine, MJ; Noble, W; ... Miller, CCJ; + view all Paillusson, S; Gomez-Suaga, P; Stoica, R; Little, D; Gissen, P; Devine, MJ; Noble, W; Hanger, DP; Miller, CCJ; - view fewer (2017) α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca(2+) homeostasis and mitochondrial ATP production. Acta Neuropathol 10.1007/s00401-017-1704-z. (In press).

Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; ... Clinical cohort recruitment and characterization group, .; + view all Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; Mills, Kevin; Gissen, Paul; Heywood, Wendy E; Clinical cohort recruitment and characterization group, .; - view fewer (2022) Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.15334. (In press).

Papandreou, A; Rahman, S; Fratter, C; Ng, J; Meyer, E; Carr, LJ; Champion, M; ... Kurian, MA; + view all Papandreou, A; Rahman, S; Fratter, C; Ng, J; Meyer, E; Carr, LJ; Champion, M; Clarke, A; Gissen, P; Hemingway, C; Hussain, N; Jayawant, S; King, MD; Lynch, BJ; Mewasingh, L; Patel, J; Prabhakar, P; Neergheen, V; Pope, S; Heales, SJR; Poulton, J; Kurian, MA; - view fewer (2018) Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. Journal of Inherited Metabolic Disease , 41 (6) pp. 1275-1283. 10.1007/s10545-018-0227-7.

Patel, N; Mills, P; Davison, J; Cleary, M; Gissen, P; Banushi, B; Doykov, I; ... Heywood, WE; + view all Patel, N; Mills, P; Davison, J; Cleary, M; Gissen, P; Banushi, B; Doykov, I; Dorman, M; Mills, K; Heywood, WE; - view fewer (2020) Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. Journal of Inherited Metabolic Disease , 43 (2) pp. 309-317. 10.1002/jimd.12166.

Patterson, Marc C; Ramaswami, Uma; Donald, Aimee; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; ... Bremova-Ertl, Tatiana; + view all Patterson, Marc C; Ramaswami, Uma; Donald, Aimee; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon A; Kay, Richard; Kolniková, Miriam; Park, Julien; Reichmannová, Stella; Walterfang, Mark; Wibawa, Pierre; Rohrbach, Marianne; Martakis, Kyriakos; Bremova-Ertl, Tatiana; - view fewer (2025) Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. Neurology , 105 (1) , Article e213589. 10.1212/WNL.0000000000213589.

Patterson, MC; Clayton, P; Gissen, P; Anheim, M; Bauer, P; Bonnot, O; Dardis, A; ... Marquardt, T; + view all Patterson, MC; Clayton, P; Gissen, P; Anheim, M; Bauer, P; Bonnot, O; Dardis, A; Dionisi-Vici, C; Klünemann, H-H; Latour, P; Lourenço, CM; Ory, DS; Parker, A; Pocoví, M; Strupp, M; Vanier, MT; Walterfang, M; Marquardt, T; - view fewer (2017) Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurol Clin Pract , 7 (6) pp. 499-511. 10.1212/CPJ.0000000000000399.

Perocheau, D; Cunningham, S; Lee, J; Antinao Diaz, J; Waddington, SN; Gilmour, K; Eaglestone, S; ... Baruteau, J; + view all Perocheau, D; Cunningham, S; Lee, J; Antinao Diaz, J; Waddington, SN; Gilmour, K; Eaglestone, S; Lisowski, L; Thrasher, AJ; Alexander, IE; Gissen, P; Baruteau, J; - view fewer (2019) Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort. Human Gene Therapy , 30 (1) pp. 79-87. 10.1089/hum.2018.098.

Perocheau, D; Touramanidou, L; Gurung, S; Gissen, P; Baruteau, J; (2021) Clinical applications for exosomes: are we there yet? British Journal of Pharmacology 10.1111/bph.15432.

Picker, Sarah MacKenzie; Parker, George; Gissen, Paul; (2023) Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review. International Journal of Molecular Sciences , 24 (17) , Article 13545. 10.3390/ijms241713545.

Rahim, AA; Gissen, P; (2020) Gene therapy for global brain diseases: one small step for mice, one giant leap for humans. Brain , 143 (7) pp. 1964-1966. 10.1093/brain/awaa189.

Reid, ES; Papandreou, A; Drury, S; Boustred, C; Yue, WW; Wedatilake, Y; Beesley, C; ... Mills, PB; + view all Reid, ES; Papandreou, A; Drury, S; Boustred, C; Yue, WW; Wedatilake, Y; Beesley, C; Jacques, TS; Anderson, G; Abulhoul, L; Broomfield, A; Cleary, M; Grunewald, S; Varadkar, SM; Lench, N; Rahman, S; Gissen, P; Clayton, PT; Mills, PB; - view fewer (2016) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain , 139 (11) pp. 2844-2854. 10.1093/brain/aww221.

Reid, ES; Williams, H; Anderson, G; Benatti, M; Chong, K; James, C; Ocaka, L; ... Clayton, PT; + view all Reid, ES; Williams, H; Anderson, G; Benatti, M; Chong, K; James, C; Ocaka, L; GOSgene; Hemingway, C; Little, D; Brown, R; Parker, A; Holden, S; Footitt, E; Rahman, S; Gissen, P; Mills, PB; Clayton, PT; - view fewer (2017) Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of Inherited Metabolic Disease , 40 (3) pp. 385-394. 10.1007/s10545-017-0025-7.

Rogerson, C; Gissen, P; (2018) VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Biochimica et Biophysica Acta - Molecular Basis of Disease , 1864 (5(A)) pp. 1609-1621. 10.1016/j.bbadis.2018.01.028.

Rogerson, C; Gissen, P; (2016) The CHEVI tethering complex: facilitating special deliveries. Journal of Pathology , 240 (3) pp. 249-252. 10.1002/path.4785.

Rosales, A; Mhibik, M; Gissen, P; Segarra, O; Redecillas, S; Ariceta, G; (2018) Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. BMC Nephrology , 19 , Article 144. 10.1186/s12882-018-0926-1.

Schulz, A; Specchio, N; de los Reyes, E; Gissen, P; Nickel, M; Trivisano, M; Aylward, SC; ... Cohen Pfeffer, J; + view all Schulz, A; Specchio, N; de los Reyes, E; Gissen, P; Nickel, M; Trivisano, M; Aylward, SC; Chakrapani, A; Schwering, C; Wibbeler, E; Westermann, LM; Ballon, DJ; Dyke, JP; Cherukuri, A; Bondade, S; Slasor, P; Cohen Pfeffer, J; - view fewer (2024) Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study. Lancet Neurology , 23 (1) pp. 60-70. 10.1016/S1474-4422(23)00384-8.

Schulz, A; Ajayi, T; Specchio, N; de Los Reyes, E; Gissen, P; Ballon, D; Dyke, JP; ... Kohlschutter, A; + view all Schulz, A; Ajayi, T; Specchio, N; de Los Reyes, E; Gissen, P; Ballon, D; Dyke, JP; Cahan, H; Slasor, P; Jacoby, D; Kohlschutter, A; - view fewer (2018) Study of Intraventricular Cerliponase Alfa for CLN2 Disease. New England Journal of Medicine , 378 (20) pp. 1898-1907. 10.1056/NEJMoa1712649.

Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; ... Forneris, F; + view all Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; Olieric, V; Cucca, L; Banushi, B; Profumo, A; Giulotto, E; Gissen, P; Forneris, F; - view fewer (2018) Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3 (vol 9, 3163, 2018). Nature Communications , 9 , Article 3912. 10.1038/s41467-018-06481-x.

Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; ... Forneris, F; + view all Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; Olieric, V; Cucca, L; Banushi, B; Profumo, A; Giulotto, E; Gissen, P; Forneris, F; - view fewer (2018) Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. Nature Communications , 9 , Article 3163. 10.1038/s41467-018-05631-5.

Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; ... Gissen, Paul; + view all Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, François; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O’Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul; - view fewer (2022) Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life , 12 (11) , Article 1721. 10.3390/life12111721.

Seker Yilmaz, Berna; Gissen, Paul; (2023) Targeting the liver to treat the eye. EMBO Molecular Medicine , Article e17285. 10.15252/emmm.202217285.

Seker Yilmaz, Berna; Gissen, Paul; (2023) Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency. Biomedicines , 11 (8) , Article 2227. 10.3390/biomedicines11082227.

Seker Yilmaz, B; Baruteau, J; Rahim, AA; Gissen, P; (2020) Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. International Journal of Molecular Sciences , 21 (14) , Article 5059. 10.3390/ijms21145059.

Sivananthan, Siyamini; Lee, Laura; Anderson, Glenn; Csanyi, Barbara; Williams, Ruth; Gissen, Paul; (2023) Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2. Brain Sciences , 13 (2) , Article 209. 10.3390/brainsci13020209.

Smets, F; Dobbelaere, D; McKiernan, P; Dionisi-Vici, C; Broue, P; Jacquemin, E; Lopes, AI; ... Sokal, E; + view all Smets, F; Dobbelaere, D; McKiernan, P; Dionisi-Vici, C; Broue, P; Jacquemin, E; Lopes, AI; Goncalves, I; Mandel, H; Pawlowska, J; Kaminska, D; Shteyer, E; Torre, G; Shapiro, R; Eyskens, F; Clapuyt, P; Gissen, P; Pariente, D; Grunewald, S; Yudkoff, M; Binda, MM; Najimi, M; Belmonte, N; de Vos, B; Thonnard, J; Sokal, E; - view fewer (2019) Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients. Transplantation , 103 (9) pp. 1903-1915. 10.1097/TP.0000000000002605.

Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; Gissen, P; ... Watson, SP; + view all Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; Gissen, P; Galmes, R; Klumperman, J; Reay, K; Cullinane, AR; Romero, R; Chang, R; Ackermann, O; Baumann, C; Cakmak Celik, F; Aygun, C; Coward, R; Inward, C; Dionisi-Vici, C; Sibbles, B; Ae Kim, C; Knisely, AS; Watson, SP; - view fewer (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation , 33 (12) 1656 - 1664. 10.1002/humu.22155.

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; ... Kurian, Manju A; + view all Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A; - view fewer (2024) Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy. Neurology , 103 (3) , Article e209615. 10.1212/WNL.0000000000209615.

Spiewak, Justyna; Doykov, Ivan; Papandreou, Apostolos; Hällqvist, Jenny; Mills, Philippa; Clayton, Peter T; Gissen, Paul; ... Heywood, Wendy E; + view all Spiewak, Justyna; Doykov, Ivan; Papandreou, Apostolos; Hällqvist, Jenny; Mills, Philippa; Clayton, Peter T; Gissen, Paul; Mills, Kevin; Heywood, Wendy E; - view fewer (2023) New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. International Journal of Molecular Sciences , 24 (12) , Article 10177. 10.3390/ijms241210177.

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Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; ... Winkelmann, J; + view all Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; Zorzi, G; Nardocci, N; Kaiyrzhanov, R; Wagner, M; Iuso, A; Berutti, R; Škorvánek, M; Necpál, J; Davis, R; Wiethoff, S; Mankad, K; Sudhakar, S; Ferrini, A; Sharma, S; Kamsteeg, E-J; Tijssen, MA; Verschuuren, C; van Egmond, ME; Flowers, JM; McEntagart, M; Tucci, A; Genomics England Research Consortium, .; Coubes, P; Bustos, BI; Gonzalez-Latapi, P; Tisch, S; Darveniza, P; Gorman, KM; Peall, KJ; Bötzel, K; Koch, JC; Kmieć, T; Plecko, B; Boesch, S; Haslinger, B; Jech, R; Garavaglia, B; Wood, N; Houlden, H; Gissen, P; Lubbe, SJ; Sue, CM; Cif, L; Mencacci, NE; Anderson, G; Kurian, MA; Winkelmann, J; - view fewer (2020) Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities. Annals of Neurology , 88 (5) pp. 867-877. 10.1002/ana.25879.

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Touramanidou, Loukia; Gurung, Sonam; Cozmescu, Claudiu A; Perocheau, Dany; Moulding, Dale; Finn, Patrick F; Frassetto, Andrea; ... Baruteau, Julien; + view all Touramanidou, Loukia; Gurung, Sonam; Cozmescu, Claudiu A; Perocheau, Dany; Moulding, Dale; Finn, Patrick F; Frassetto, Andrea; Waddington, Simon N; Gissen, Paul; Baruteau, Julien; - view fewer (2024) Macrophage Inhibitor Clodronate Enhances Liver Transduction of Lentiviral but Not Adeno-Associated Viral Vectors or mRNA Lipid Nanoparticles in Neonatal and Juvenile Mice. Cells , 13 (23) , Article 1979. 10.3390/cells13231979.

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Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; Kurian, M; Livingston, J; McFarland, R; Pal, S; Pike, M; Robinson, R; Wassmer, E; Zuberi, S; - view fewer (2018) Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies? Archives of Disease in Childhood 10.1136/archdischild-2018-315458. (In press).

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Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; David, Anna L; - view fewer (2023) Fetal gene therapy. Journal of Inherited Metabolic Disease 10.1002/jimd.12659. (In press).

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Wibbeler, E; Wang, R; Reyes, EDL; Specchio, N; Gissen, P; Guelbert, N; Nickel, M; ... Schulz, A; + view all Wibbeler, E; Wang, R; Reyes, EDL; Specchio, N; Gissen, P; Guelbert, N; Nickel, M; Schwering, C; Lehwald, L; Trivisano, M; Lee, L; Amato, G; Cohen-Pfeffer, J; Shediac, R; Leal-Pardinas, F; Schulz, A; - view fewer (2020) Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. Journal of Child Neurology 10.1177/0883073820977997. (In press).

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Xu, X; Awad, A; Martinez, PR; Gaisford, S; Goyanes, A; Basit, AW; (2021) Vat photopolymerization 3D printing for advanced drug delivery and medical device applications. Journal of Controlled Release , 329 pp. 743-757. 10.1016/j.jconrel.2020.10.008.

Xue, H; Tseng, E; Knott, KD; Kotecha, T; Brown, L; Plein, S; Fontana, M; ... Kellman, P; + view all Xue, H; Tseng, E; Knott, KD; Kotecha, T; Brown, L; Plein, S; Fontana, M; Moon, JC; Kellman, P; - view fewer (2020) Automated detection of left ventricle in arterial input function images for inline perfusion mapping using deep learning: A study of 15,000 patients. Magnetic Resonance in Medicine , 84 (5) pp. 2788-2800. 10.1002/mrm.28291.

Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; ... Muntoni, F; + view all Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; Lu-Nguyen, N; Sun, L; Mariot, V; Dumonceaux, J; Morgan, JE; Gissen, P; Dickson, G; Muntoni, F; - view fewer (2020) Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12542. (In press).

Thesis

Baruteau, JC; (2017) A gene therapy approach for Argininosuccinic aciduria. Doctoral thesis , UCL (University College London).

Lyne, A-M; (2016) Advances in statistical methodology and analysis in a study of ARC syndrome. Doctoral thesis , UCL (University College London).

Mosaku, Olukunbi Eniola; (2018) The Use of the CRISPR-Cas9 System and iPSC-derived Neurons with a SNCA Mutation to Model Neurodegeneration. Doctoral thesis (Ph.D), UCL (University College London).

Reid, ES; (2016) Cellular and molecular investigations of undiagnosed neurometabolic disorders. Doctoral thesis , UCL (University College London).

This list was generated on Sun Feb 1 06:19:36 2026 GMT.