Browse by UCL Departments and Centres
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Number of items: 123.
A
| Abu-Amara, M and Yang, SY and Quaglia, A and Rowley, P and Tapuria, N and Fuller, B and Davidson, B and Seifalian, A (2012) The hepatic soluble guanylyl cyclase-cyclic guanosine monophosphate pathway mediates the protection of remote ischemic preconditioning on the microcirculation in liver ischemia-reperfusion injury. Transplantation , 93 (9) 880 - 886. 10.1097/TP.0b013e31824cd59d. |
| Abu-Amara, M and Yang, SY and Seifalian, A and Davidson, B and Fuller, B (2012) The nitric oxide pathway--evidence and mechanisms for protection against liver ischaemia reperfusion injury. Liver Int , 32 (4) 531 - 543. 10.1111/j.1478-3231.2012.02755.x. |
| Alagaratnam, S and Johnson, A and Seifalian, A and Winslet, M and Yang, S (2012) Autophagy in cancer cells as a pro-survival mechanism. In: BRITISH JOURNAL OF SURGERY. (pp. 105 - 106). |
| Alatzoglou, KS and Dattani, MT (2012) Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian J Pediatr , 79 (1) 99 - 106. 10.1007/s12098-011-0614-7. |
| Alston, CL and Davison, JE and Meloni, F and van der Westhuizen, FH and He, L and Hornig-Do, H-T and Peet, AC and Gissen, P and Goffrini, P and Ferrero, I and Wassmer, E and McFarland, R and Taylor, RW (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. |
| Andoniadou, CL and Gaston-Massuet, C and Reddy, R and Schneider, RP and Blasco, MA and Le Tissier, P and Jacques, TS and Pevny, LH and Dattani, MT and Martinez-Barbera, JP (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathologica 1 - 13. |
| Andoniadou, CL and Gaston-Massuet, C and Reddy, R and Schneider, RP and Blasco, MA and Le Tissier, P and Jacques, TS and Pevny, LH and Dattani, MT and Martinez-Barbera, JP (2012) Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathol , 124 (2) 259 - 271. 10.1007/s00401-012-0957-9. |
| Arboleda, VA and Lee, H and Parnaik, R and Fleming, A and Banerjee, A and Ferraz-de-Souza, B and Délot, EC and Rodriguez-Fernandez, IA and Braslavsky, D and Bergadá, I and Dell'Angelica, EC and Nelson, SF and Martinez-Agosto, JA and Achermann, JC and Vilain, E (2012) Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet , 44 (7) 788 - 792. 10.1038/ng.2275. |
| Aylett, S-B and Neergheen, V and Eaton, S and Land, JM and Rahman, S and Heales, SJ (2012) FACTORS AFFECTING 5-METHYLTETRAHYDROFOLATE (5MTHF) STABILITY: IMPLICATIONS FOR CEREBRAL 5MTHF DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S141 - S141). |
| Aylett, S-B and Varadkar, S and Fassone, E and Pope, S and Neergheen, V and Hargreaves, IP and Land, JM and Heales, SJ and Rahman, S (2012) CEREBRAL FOLATE DEFICIENCY ASSOCIATED WITH A NOVEL HOMOZYGOUS NONSENSE MUTATION IN FOLR1. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S138 - S138). |
B
| Bancalari, RE and Gregory, LC and McCabe, MJ and Dattani, MT (2012) Pituitary gland development: an update. Endocr Dev , 23 1 - 15. 10.1159/000341733. |
| Bawazir, WM and Gevers, EF and Flatt, JF and Ang, AL and Jacobs, B and Oren, C and Grunewald, S and Dattani, M and Bruce, LJ and Stewart, GW (2012) An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. J Clin Endocrinol Metab , 97 (6) E987 - E993. 10.1210/jc.2012-1399. |
| Bennett, K and Heywood, W and Di, WL and Harper, J and Clayman, GL and Jayakumar, A and Callard, R and Mills, K (2012) The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome. J Proteomics , 75 (13) 3925 - 3937. 10.1016/j.jprot.2012.04.045. |
| Bochukova, E and Schoenmakers, N and Agostini, M and Schoenmakers, E and Rajanayagam, O and Keogh, JM and Henning, E and Reinemund, J and Gevers, E and Sarri, M and Downes, K and Offiah, A and Albanese, A and Halsall, D and Schwabe, JW and Bain, M and Lindley, K and Muntoni, F and Vargha-Khadem, F and Dattani, M and Farooqi, IS and Gurnell, M and Chatterjee, K (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med , 366 (3) 243 - 249. 10.1056/NEJMoa1110296. |
| Bowron, A and Frost, R and Powers, VE and Thomas, PH and Heales, SJ and Steward, CG (2012) Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. J Inherit Metab Dis 10.1007/s10545-012-9552-4. |
| Brook, CGD and Dattani, MT (2012) Handbook of Clinical Pediatric Endocrinology. Wiley |
| Burke, DG and Rahim, AA and Waddington, SN and Karlsson, S and Enquist, I and Bhatia, K and Mehta, A and Vellodi, A and Heales, S (2012) Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. J Inherit Metab Dis 10.1007/s10545-012-9561-3. |
C
| Carta, E and Pauws, E and Thomas, AC and Mengrelis, K and Moore, GE and Lees, M and Stanier, P (2012) Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol , 94 (6) 459 - 463. 10.1002/bdra.23008. |
| Charmandari, E and Achermann, JC and Carel, JC and Soder, O and Chrousos, GP (2012) Stress response and child health. Sci Signal , 5 (248) mr1 - ?. 10.1126/scisignal.2003595. |
| Chong, CP and Mills, PB and McClean, P and Gissen, P and Bruce, C and Stahlschmidt, J and Knisely, AS and Clayton, PT (2012) Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. J Inherit Metab Dis , 35 (3) 521 - 530. 10.1007/s10545-011-9416-3. |
| Christesen, HT and Brusgaard, K and Hussain, K (2012) Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with congenital hyperinsulinism. Clinical Endocrinology , 76 (4) 548 - 554. |
D
| Duberley, KEC and Hargreaves, IP and Chaiwatanasirikul, K and Heales, SJ and Rahman, S and Mills, K and Eaton, S (2012) DEVELOPMENT OF A MASS SPECTROMETRY METHOD (MS/MS) FOR QUANTIFICATION OF COENZYME Q10 IN CSF. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S124 - S124). |
| Duncan, AJ and Knight, JA and Costello, H and Conway, GS and Rahman, S (2012) POLG mutations and age at menopause. Hum Reprod , 27 (7) 2243 - 2244. 10.1093/humrep/des130. |
E
| El-Khairi, R and Achermann, JC (2012) Steroidogenic factor-1 and human disease. Semin Reprod Med , 30 (5) 374 - 381. 10.1055/s-0032-1324720. |
| El-Khairi, R and Parnaik, R and Duncan, AJ and Lin, L and Gerrelli, D and Dattani, MT and Conway, GS and Achermann, JC (2012) Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. Mol Cell Endocrinol , 351 (2) 264 - 268. 10.1016/j.mce.2011.12.016. |
F
| Fassone, E and Rahman, S (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics (vol 49, pg 578, 2012). JOURNAL OF MEDICAL GENETICS , 49 (10) 668 - 668. 10.1136/jmedgenet-2012-101159corr1. |
| Fassone, E and Rahman, S (2012) Complex I deficiency: clinical features, biochemistry and molecular genetics. J Med Genet , 49 (9) 578 - 590. 10.1136/jmedgenet-2012-101159. |
| Fassone, E and Taanman, JW and Sweeney, MG and Woodward, C and Hargreaves, IP and Hanna, MG and Taylor, RW and Duncan, AJ and Rahman, S (2012) WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S13 - S13). |
| Flanagan, S and Damhuis, A and Banerjee, I and Rokicki, D and Jefferies, C and Kapoor, R and Hussain, K and Ellard, S (2012) Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes , 13 (3) 285 - 289. 10.1111/j.1399-5448.2011.00821.x. |
| Flanagan, SE and Mackay, DJG and Greeley, SAW and McDonald, TJ and Mericq, V and Hassing, J and Richmond, EJ and Martin, WR and Acerini, C and Kaulfers, AM and Flynn, DP and Popovic, J and Sperling, MA and Hussain, K and Ellard, S and Hattersley, AT (2012) Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia 1 - 4. |
| Foley, AR and Broomfield, AA and Pandraud, A and Johnson, JO and Singleton, AB and Hargreaves, IP and Land, JM and Grunewald, S and Rahman, S and Clayton, P and Houlden, H and Reilly, MM and Muntoni, F (2012) High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4). |
G
| García-Obregón, S and Alfonso-Sánchez, MA and Pérez-Miranda, AM and Gómez-Pérez, L and de Parcorbo, MM and Peña, JA (2012) Ancestry markers from the human chromosome 6: Alu repeats from the MHC in autochthonous Basques. Hum Immunol , 73 (7) 720 - 725. 10.1016/j.humimm.2012.04.010. |
| Gegg, ME and Burke, D and Heales, SJ and Cooper, JM and Hardy, J and Wood, NW and Schapira, AH (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol , 72 (3) 455 - 463. 10.1002/ana.23614. |
| Glamuzina, E and Brown, R and Hogarth, K and Saunders, D and Russell-Eggitt, I and Pitt, M and de Sousa, C and Rahman, S and Brown, G and Grunewald, S (2012) Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis , 35 (3) 459 - 467. 10.1007/s10545-011-9413-6. |
| Gray, Z and McKay, K and Lloyd, C and Hartley, J and MacDonald, F and Hendriksz, CJ and Gissen, P and Kelly, DA (2012) A PROJECT TO IDENTIFY GENES THAT CAUSE RECESSIVE INHERITED LIVER DISEASES. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S105 - S105). |
| Griffiths, WJ and Crick, PJ and Wang, Y and Ogundare, M and Tuschl, K and Morris, AA and Bigger, BW and Clayton, PT (2012) Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma. Free Radical Biology and Medicine |
H
| Haas, D and Gan-Schreier, H and Langhans, C-D and Rohrer, T and Engelmann, G and Heverin, M and Russell, DW and Clayton, PT and Hoffmann, GF and Okun, JG (2012) Differential diagnosis in patients with suspected bile acid synthesis defects. World Journal of Gastroenterology , 18 (10) 1067 - 1076. |
| Habeb, AM and Al-Magamsi, MS and Eid, IM and Ali, MI and Hattersley, AT and Hussain, K and Ellard, S (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatric Diabetes , 13 (6) 499 - 505. |
| Habeb, AM and Al-Magamsi, MS and Eid, IM and Ali, MI and Hattersley, AT and Hussain, K and Ellard, S (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes , 13 (6) 499 - 505. 10.1111/j.1399-5448.2011.00828.x. |
| Habeb, AM and Flanagan, SE and Deeb, A and Al-Alwan, I and Alawneh, H and Balafrej, AAL and Mutair, A and Hattersley, AT and Hussain, K and Ellard, S (2012) Permanent neonatal diabetes: Different aetiology in Arabs compared to Europeans. Archives of Disease in Childhood , 97 (8) 721 - 723. |
| Hadzic, N and Bull, LN and Clayton, PT and Knisely, AS (2012) Diagnosis in bile acid-CoA: Amino acid N-acyltransferase deficiency. WORLD JOURNAL OF GASTROENTEROLOGY , 18 (25) 3322 - 3326. 10.3748/wjg.v18.i25.3322. |
| Hall, A and Pembrey, M and Lutman, M and Steer, C and Bitner-Glindzicz, M (2012) Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. BMJ Open , 2 (4) 10.1136/bmjopen-2012-001238. |
| Heslegrave, AJ and Kapoor, RR and Eaton, S and Chadefaux, B and Akcay, T and Simsek, E and Flanagan, SE and Ellard, S and Hussain, K (2012) Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet J Rare Dis , 7 (1) 25 - ?. 10.1186/1750-1172-7-25. |
| Heywood, W and Mills, K and Wang, D and Hogg, J and Madgett, TE and Avent, ND and Chitty, LS (2012) Identification of new biomarkers for Down's syndrome in maternal plasma. J Proteomics , 75 (9) 2621 - 2628. 10.1016/j.jprot.2012.03.007. |
| Heywood, W and Wang, D and Madgett, TE and Avent, ND and Eaton, S and Chitty, LS and Mills, K (2012) The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome. J Proteomics , 75 (11) 3248 - 3257. 10.1016/j.jprot.2012.03.037. |
| Hindmarsh, PC (2012) Endocrine Society Congenital Adrenal Hyperplasia Guidelines: great content but how to deliver? Clin Endocrinol (Oxf) , 76 (4) 465 - 466. 10.1111/j.1365-2265.2011.04289.x. |
| Hindmarsh, PC (2012) Growth hormone treatment 50 years down the line - are we getting value? Clin Endocrinol (Oxf) , 77 (1) 11 - 12. 10.1111/j.1365-2265.2012.04380.x. |
I
| Illingworth, MA and Boyd, S and Varadkar, S and Rahman, S (2012) EPILEPTIC PHENOTYPES IN CHILDREN WITH PROVEN MITOCHONDRIAL DISEASE AND EPILEPSY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S120 - S120). |
| Ishida, M and Monk, D and Duncan, AJ and Abu-Amero, S and Chong, J and Ring, SM and Pembrey, ME and Hindmarsh, PC and Whittaker, JC and Stanier, P and Moore, GE (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. American Journal of Human Genetics , 90 (4) 715 - 719. |
| Ishida, M and Monk, D and Duncan, AJ and Abu-Amero, S and Chong, J and Ring, SM and Pembrey, ME and Hindmarsh, PC and Whittaker, JC and Stanier, P and Moore, GE (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. Am J Hum Genet , 90 (4) 715 - 719. 10.1016/j.ajhg.2012.02.021. |
| Ishida, M and Moore, GE (2012) The role of imprinted genes in humans. Mol Aspects Med 10.1016/j.mam.2012.06.009. |
| Ishida, M. (2012) The role of imprinted genes in human fetal growth. Doctoral thesis, UCL (University College London). |
| Ismail, D and Kapoor, RR and Smith, VV and Ashworth, M and Blankenstein, O and Pierro, A and Flanagan, SE and Ellard, S and Hussain, K (2012) The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab , 97 (1) E94 - E99. 10.1210/jc.2011-1628. |
J
| Jayakody, SA and Andoniadou, CL and Gaston-Massuet, C and Signore, M and Cariboni, A and Bouloux, PM and Le Tissier, P and Pevny, LH and Dattani, MT and Martinez-Barbera, JP (2012) SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest , 122 (10) 3635 - 3646. 10.1172/JCI64311. |
| Johnson, JO and Gibbs, JR and Megarbane, A and Urtizberea, JA and Hernandez, DG and Foley, AR and Arepalli, S and Pandraud, A and Simón-Sánchez, J and Clayton, P and Reilly, MM and Muntoni, F and Abramzon, Y and Houlden, H and Singleton, AB (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain , 135 (Pt 9) 2875 - 2882. 10.1093/brain/aws161. |
| Jones, ML and Murden, SL and Bem, D and Mundell, SJ and Gissen, P and Daly, ME and Watson, SP and Mumford, AD and UK GAPP study group, (2012) Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost , 10 (2) 306 - 309. 10.1111/j.1538-7836.2011.04569.x. |
K
| Kapoor, RR and Flanagan, SE and Ellard, S and Hussain, K (2012) Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf) , 76 (2) 312 - 313. 10.1111/j.1365-2265.2011.04203.x. |
| Kapoor, RR and James, CT and Hussain, K (2012) HNF4A and hyperinsulinemic hypoglycemia. Frontiers in Diabetes , 21 182 - 190. |
| Khalid, JM and Oerton, JM and Dezateux, C and Hindmarsh, PC and Kelnar, CJ and Knowles, RL (2012) Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child , 97 (2) 101 - 106. 10.1136/archdischild-2011-300234. |
| Kinsler, V and Hindmarsh, P and Dattani, M and Cole, T and Khan, S and White, A and Healy, E and Sebire, N and Moore, G (2012) Abnormalities of growth and endocrinology in children with congenital melanocytic naevi. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. 131 - 131). |
| Kinsler, V and Shaw, AC and Merks, JH and Hennekam, RC (2012) The face in congenital melanocytic nevus syndrome. Am J Med Genet A , 158A (5) 1014 - 1019. 10.1002/ajmg.a.34217. |
| Kinsler, VA (2012) Studies of congenital melanocytic naevi. Doctoral thesis, UCL (University College London). |
| Kinsler, VA and Abu-Amero, S and Budd, P and Jackson, IJ and Ring, SM and Northstone, K and Atherton, DJ and Bulstrode, NW and Stanier, P and Hennekam, RC and Sebire, NJ and Moore, GE and Healy, E (2012) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol , 132 (8) 2026 - 2032. 10.1038/jid.2012.95. |
| Kinsler, VA and Paine, SM and Anderson, GW and Wijesekara, DS and Sebire, NJ and Chong, WK and Harkness, W and Aylett, SE and Jacques, TS (2012) Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol 10.1007/s00401-012-0945-0. |
| Kinsler, VA and Thomas, AC and Ishida, M and Bulstrode, NW and Loughlin, S and Hing, S and Chalker, J and Mckenzie, K and Abu-Amero, S and Slater, O and Chanudet, E and Palmer, R and Morrogh, D and Stanier, P and Healy, E and Sebire, NJ and Moore, GE (2012) Multiple congenital melanocytic naevi and neurocutaneous melanosis are caused by mosaicism for NRAS codon 61 mutations, leading to an increased risk of melanoma in affected tissues. In: GENETICS RESEARCH. (pp. 358 - 359). |
| Klionsky, DJ and Abdalla, FC and Abeliovich, H and Abraham, RT and Acevedo-Arozena, A and Adeli, K and Agholme, L and Agnello, M and Agostinis, P and Aguirre-Ghiso, JA and Ahn, HJ and Ait-Mohamed, O and Ait-Si-Ali, S and Akematsu, T and Akira, S and Al-Younes, HM and Al-Zeer, MA and Albert, ML and Albin, RL and Alegre-Abarrategui, J and Aleo, MF and Alirezaei, M and Almasan, A and Almonte-Becerril, M and Amano, A and Amaravadi, R and Amarnath, S and Amer, AO and Andrieu-Abadie, N and Anantharam, V and Ann, DK and Anoopkumar-Dukie, S and Aoki, H and Apostolova, N and Arancia, G and Aris, JP and Asanuma, K and Asare, NY and Ashida, H and Askanas, V and Askew, DS and Auberger, P and Baba, M and Backues, SK and Baehrecke, EH and Bahr, BA and Bai, XY and Bailly, Y and Baiocchi, R and Baldini, G and Balduini, W and Ballabio, A and Bamber, BA and Bampton, ET and Bánhegyi, G and Bartholomew, CR and Bassham, DC and Bast, RC and Batoko, H and Bay, BH and Beau, I and Béchet, DM and Begley, TJ and Behl, C and Behrends, C and Bekri, S and Bellaire, B and Bendall, LJ and Benetti, L and Berliocchi, L and Bernardi, H and Bernassola, F and Besteiro, S and Bhatia-Kissova, I and Bi, X and Biard-Piechaczyk, M and Blum, JS and Boise, LH and Bonaldo, P and Boone, DL and Bornhauser, BC and Bortoluci, KR and Bossis, I and Bost, F and Bourquin, JP and Boya, P and Boyer-Guittaut, M and Bozhkov, PV and Brady, NR and Brancolini, C and Brech, A and Brenman, JE and Brennand, A and Bresnick, EH and Brest, P and Bridges, D and Bristol, ML and Brookes, PS and Brown, EJ and Brumell, JH and Brunetti-Pierri, N and Brunk, UT and Bulman, DE and Bultman, SJ and Bultynck, G and Burbulla, LF and Bursch, W and Butchar, JP and Buzgariu, W and Bydlowski, SP and Cadwell, K and Cahová, M and Cai, D and Cai, J and Cai, Q and Calabretta, B and Calvo-Garrido, J and Camougrand, N and Campanella, M and Campos-Salinas, J and Candi, E and Cao, L and Caplan, AB and Carding, SR and Cardoso, SM and Carew, JS and Carlin, CR and Carmignac, V and Carneiro, LA and Carra, S and Caruso, RA and Casari, G and Casas, C and Castino, R and Cebollero, E and Cecconi, F and Celli, J and Chaachouay, H and Chae, HJ and Chai, CY and Chan, DC and Chan, EY and Chang, RC and Che, CM and Chen, CC and Chen, GC and Chen, GQ and Chen, M and Chen, Q and Chen, SS and Chen, W and Chen, X and Chen, X and Chen, X and Chen, YG and Chen, Y and Chen, Y and Chen, YJ and Chen, Z and Cheng, A and Cheng, CH and Cheng, Y and Cheong, H and Cheong, JH and Cherry, S and Chess-Williams, R and Cheung, ZH and Chevet, E and Chiang, HL and Chiarelli, R and Chiba, T and Chin, LS and Chiou, SH and Chisari, FV and Cho, CH and Cho, DH and Choi, AM and Choi, D and Choi, KS and Choi, ME and Chouaib, S and Choubey, D and Choubey, V and Chu, CT and Chuang, TH and Chueh, SH and Chun, T and Chwae, YJ and Chye, ML and Ciarcia, R and Ciriolo, MR and Clague, MJ and Clark, RS and Clarke, PG and Clarke, R and Codogno, P and Coller, HA and Colombo, MI and Comincini, S and Condello, M and Condorelli, F and Cookson, MR and Coombs, GH and Coppens, I and Corbalan, R and Cossart, P and Costelli, P and Costes, S and Coto-Montes, A and Couve, E and Coxon, FP and Cregg, JM and Crespo, JL and Cronjé, MJ and Cuervo, AM and Cullen, JJ and Czaja, MJ and D'Amelio, M and Darfeuille-Michaud, A and Davids, LM and Davies, FE and De Felici, M and de Groot, JF and de Haan, CA and De Martino, L and De Milito, A and De Tata, V and Debnath, J and Degterev, A and Dehay, B and Delbridge, LM and Demarchi, F and Deng, YZ and Dengjel, J and Dent, P and Denton, D and Deretic, V and Desai, SD and Devenish, RJ and Di Gioacchino, M and Di Paolo, G and Di Pietro, C and Díaz-Araya, G and Díaz-Laviada, I and Diaz-Meco, MT and Diaz-Nido, J and Dikic, I and Dinesh-Kumar, SP and Ding, WX and Distelhorst, CW and Diwan, A and Djavaheri-Mergny, M and Dokudovskaya, S and Dong, Z and Dorsey, FC and Dosenko, V and Dowling, JJ and Doxsey, S and Dreux, M and Drew, ME and Duan, Q and Duchosal, MA and Duff, K and Dugail, I and Durbeej, M and Duszenko, M and Edelstein, CL and Edinger, AL and Egea, G and Eichinger, L and Eissa, NT and Ekmekcioglu, S and El-Deiry, WS and Elazar, Z and Elgendy, M and Ellerby, LM and Eng, KE and Engelbrecht, AM and Engelender, S and Erenpreisa, J and Escalante, R and Esclatine, A and Eskelinen, EL and Espert, L and Espina, V and Fan, H and Fan, J and Fan, QW and Fan, Z and Fang, S and Fang, Y and Fanto, M and Fanzani, A and Farkas, T and Farré, JC and Faure, M and Fechheimer, M and Feng, CG and Feng, J and Feng, Q and Feng, Y and Fésüs, L and Feuer, R and Figueiredo-Pereira, ME and Fimia, GM and Fingar, DC and Finkbeiner, S and Finkel, T and Finley, KD and Fiorito, F and Fisher, EA and Fisher, PB and Flajolet, M and Florez-McClure, ML and Florio, S and Fon, EA and Fornai, F and Fortunato, F and Fotedar, R and Fowler, DH and Fox, HS and Franco, R and Frankel, LB and Fransen, M and Fuentes, JM and Fueyo, J and Fujii, J and Fujisaki, K and Fujita, E and Fukuda, M and Furukawa, RH and Gaestel, M and Gailly, P and Gajewska, M and Galliot, B and Galy, V and Ganesh, S and Ganetzky, B and Ganley, IG and Gao, FB and Gao, GF and Gao, J and Garcia, L and Garcia-Manero, G and Garcia-Marcos, M and Garmyn, M and Gartel, AL and Gatti, E and Gautel, M and Gawriluk, TR and Gegg, ME and Geng, J and Germain, M and Gestwicki, JE and Gewirtz, DA and Ghavami, S and Ghosh, P and Giammarioli, AM and Giatromanolaki, AN and Gibson, SB and Gilkerson, RW and Ginger, ML and Ginsberg, HN and Golab, J and Goligorsky, MS and Golstein, P and Gomez-Manzano, C and Goncu, E and Gongora, C and Gonzalez, CD and Gonzalez, R and González-Estévez, C and González-Polo, RA and Gonzalez-Rey, E and Gorbunov, NV and Gorski, S and Goruppi, S and Gottlieb, RA and Gozuacik, D and Granato, GE and Grant, GD and Green, KN and Gregorc, A and Gros, F and Grose, C and Grunt, TW and Gual, P and Guan, JL and Guan, KL and Guichard, SM and Gukovskaya, AS and Gukovsky, I and Gunst, J and Gustafsson, AB and Halayko, AJ and Hale, AN and Halonen, SK and Hamasaki, M and Han, F and Han, T and Hancock, MK and Hansen, M and Harada, H and Harada, M and Hardt, SE and Harper, JW and Harris, AL and Harris, J and Harris, SD and Hashimoto, M and Haspel, JA and Hayashi, S and Hazelhurst, LA and He, C and He, YW and Hébert, MJ and Heidenreich, KA and Helfrich, MH and Helgason, GV and Henske, EP and Herman, B and Herman, PK and Hetz, C and Hilfiker, S and Hill, JA and Hocking, LJ and Hofman, P and Hofmann, TG and Höhfeld, J and Holyoake, TL and Hong, MH and Hood, DA and Hotamisligil, GS and Houwerzijl, EJ and Høyer-Hansen, M and Hu, B and Hu, CA and Hu, HM and Hua, Y and Huang, C and Huang, J and Huang, S and Huang, WP and Huber, TB and Huh, WK and Hung, TH and Hupp, TR and Hur, GM and Hurley, JB and Hussain, SN and Hussey, PJ and Hwang, JJ and Hwang, S and Ichihara, A and Ilkhanizadeh, S and Inoki, K and Into, T and Iovane, V and Iovanna, JL and Ip, NY and Isaka, Y and Ishida, H and Isidoro, C and Isobe, K and Iwasaki, A and Izquierdo, M and Izumi, Y and Jaakkola, PM and Jäättelä, M and Jackson, GR and Jackson, WT and Janji, B and Jendrach, M and Jeon, JH and Jeung, EB and Jiang, H and Jiang, H and Jiang, JX and Jiang, M and Jiang, Q and Jiang, X and Jiang, X and Jiménez, A and Jin, M and Jin, S and Joe, CO and Johansen, T and Johnson, DE and Johnson, GV and Jones, NL and Joseph, B and Joseph, SK and Joubert, AM and Juhász, G and Juillerat-Jeanneret, L and Jung, CH and Jung, YK and Kaarniranta, K and Kaasik, A and Kabuta, T and Kadowaki, M and Kagedal, K and Kamada, Y and Kaminskyy, VO and Kampinga, HH and Kanamori, H and Kang, C and Kang, KB and Kang, KI and Kang, R and Kang, YA and Kanki, T and Kanneganti, TD and Kanno, H and Kanthasamy, AG and Kanthasamy, A and Karantza, V and Kaushal, GP and Kaushik, S and Kawazoe, Y and Ke, PY and Kehrl, JH and Kelekar, A and Kerkhoff, C and Kessel, DH and Khalil, H and Kiel, JA and Kiger, AA and Kihara, A and Kim, DR and Kim, DH and Kim, DH and Kim, EK and Kim, HR and Kim, JS and Kim, JH and Kim, JC and Kim, JK and Kim, PK and Kim, SW and Kim, YS and Kim, Y and Kimchi, A and Kimmelman, AC and King, JS and Kinsella, TJ and Kirkin, V and Kirshenbaum, LA and Kitamoto, K and Kitazato, K and Klein, L and Klimecki, WT and Klucken, J and Knecht, E and Ko, BC and Koch, JC and Koga, H and Koh, JY and Koh, YH and Koike, M and Komatsu, M and Kominami, E and Kong, HJ and Kong, WJ and Korolchuk, VI and Kotake, Y and Koukourakis, MI and Kouri Flores, JB and Kovács, AL and Kraft, C and Krainc, D and Krämer, H and Kretz-Remy, C and Krichevsky, AM and Kroemer, G and Krüger, R and Krut, O and Ktistakis, NT and Kuan, CY and Kucharczyk, R and Kumar, A and Kumar, R and Kumar, S and Kundu, M and Kung, HJ and Kurz, T and Kwon, HJ and La Spada, AR and Lafont, F and Lamark, T and Landry, J and Lane, JD and Lapaquette, P and Laporte, JF and László, L and Lavandero, S and Lavoie, JN and Layfield, R and Lazo, PA and Le, W and Le Cam, L and Ledbetter, DJ and Lee, AJ and Lee, BW and Lee, GM and Lee, J and Lee, JH and Lee, M and Lee, MS and Lee, SH and Leeuwenburgh, C and Legembre, P and Legouis, R and Lehmann, M and Lei, HY and Lei, QY and Leib, DA and Leiro, J and Lemasters, JJ and Lemoine, A and Lesniak, MS and Lev, D and Levenson, VV and Levine, B and Levy, E and Li, F and Li, JL and Li, L and Li, S and Li, W and Li, XJ and Li, YB and Li, YP and Liang, C and Liang, Q and Liao, YF and Liberski, PP and Lieberman, A and Lim, HJ and Lim, KL and Lim, K and Lin, CF and Lin, FC and Lin, J and Lin, JD and Lin, K and Lin, WW and Lin, WC and Lin, YL and Linden, R and Lingor, P and Lippincott-Schwartz, J and Lisanti, MP and Liton, PB and Liu, B and Liu, CF and Liu, K and Liu, L and Liu, QA and Liu, W and Liu, YC and Liu, Y and Lockshin, RA and Lok, CN and Lonial, S and Loos, B and Lopez-Berestein, G and López-Otín, C and Lossi, L and Lotze, MT and Lőw, P and Lu, B and Lu, B and Lu, B and Lu, Z and Luciano, F and Lukacs, NW and Lund, AH and Lynch-Day, MA and Ma, Y and Macian, F and MacKeigan, JP and Macleod, KF and Madeo, F and Maiuri, L and Maiuri, MC and Malagoli, D and Malicdan, MC and Malorni, W and Man, N and Mandelkow, EM and Manon, S and Manov, I and Mao, K and Mao, X and Mao, Z and Marambaud, P and Marazziti, D and Marcel, YL and Marchbank, K and Marchetti, P and Marciniak, SJ and Marcondes, M and Mardi, M and Marfe, G and Mariño, G and Markaki, M and Marten, MR and Martin, SJ and Martinand-Mari, C and Martinet, W and Martinez-Vicente, M and Masini, M and Matarrese, P and Matsuo, S and Matteoni, R and Mayer, A and Mazure, NM and McConkey, DJ and McConnell, MJ and McDermott, C and McDonald, C and McInerney, GM and McKenna, SL and McLaughlin, B and McLean, PJ and McMaster, CR and McQuibban, GA and Meijer, AJ and Meisler, MH and Meléndez, A and Melia, TJ and Melino, G and Mena, MA and Menendez, JA and Menna-Barreto, RF and Menon, MB and Menzies, FM and Mercer, CA and Merighi, A and Merry, DE and Meschini, S and Meyer, CG and Meyer, TF and Miao, CY and Miao, JY and Michels, PA and Michiels, C and Mijaljica, D and Milojkovic, A and Minucci, S and Miracco, C and Miranti, CK and Mitroulis, I and Miyazawa, K and Mizushima, N and Mograbi, B and Mohseni, S and Molero, X and Mollereau, B and Mollinedo, F and Momoi, T and Monastyrska, I and Monick, MM and Monteiro, MJ and Moore, MN and Mora, R and Moreau, K and Moreira, PI and Moriyasu, Y and Moscat, J and Mostowy, S and Mottram, JC and Motyl, T and Moussa, CE and Müller, S and Muller, S and Münger, K and Münz, C and Murphy, LO and Murphy, ME and Musarò, A and Mysorekar, I and Nagata, E and Nagata, K and Nahimana, A and Nair, U and Nakagawa, T and Nakahira, K and Nakano, H and Nakatogawa, H and Nanjundan, M and Naqvi, NI and Narendra, DP and Narita, M and Navarro, M and Nawrocki, ST and Nazarko, TY and Nemchenko, A and Netea, MG and Neufeld, TP and Ney, PA and Nezis, IP and Nguyen, HP and Nie, D and Nishino, I and Nislow, C and Nixon, RA and Noda, T and Noegel, AA and Nogalska, A and Noguchi, S and Notterpek, L and Novak, I and Nozaki, T and Nukina, N and Nürnberger, T and Nyfeler, B and Obara, K and Oberley, TD and Oddo, S and Ogawa, M and Ohashi, T and Okamoto, K and Oleinick, NL and Oliver, FJ and Olsen, LJ and Olsson, S and Opota, O and Osborne, TF and Ostrander, GK and Otsu, K and Ou, JH and Ouimet, M and Overholtzer, M and Ozpolat, B and Paganetti, P and Pagnini, U and Pallet, N and Palmer, GE and Palumbo, C and Pan, T and Panaretakis, T and Pandey, UB and Papackova, Z and Papassideri, I and Paris, I and Park, J and Park, OK and Parys, JB and Parzych, KR and Patschan, S and Patterson, C and Pattingre, S and Pawelek, JM and Peng, J and Perlmutter, DH and Perrotta, I and Perry, G and Pervaiz, S and Peter, M and Peters, GJ and Petersen, M and Petrovski, G and Phang, JM and Piacentini, M and Pierre, P and Pierrefite-Carle, V and Pierron, G and Pinkas-Kramarski, R and Piras, A and Piri, N and Platanias, LC and Pöggeler, S and Poirot, M and Poletti, A and Poüs, C and Pozuelo-Rubio, M and Prætorius-Ibba, M and Prasad, A and Prescott, M and Priault, M and Produit-Zengaffinen, N and Progulske-Fox, A and Proikas-Cezanne, T and Przedborski, S and Przyklenk, K and Puertollano, R and Puyal, J and Qian, SB and Qin, L and Qin, ZH and Quaggin, SE and Raben, N and Rabinowich, H and Rabkin, SW and Rahman, I and Rami, A and Ramm, G and Randall, G and Randow, F and Rao, VA and Rathmell, JC and Ravikumar, B and Ray, SK and Reed, BH and Reed, JC and Reggiori, F and Régnier-Vigouroux, A and Reichert, AS and Reiners, JJ and Reiter, RJ and Ren, J and Revuelta, JL and Rhodes, CJ and Ritis, K and Rizzo, E and Robbins, J and Roberge, M and Roca, H and Roccheri, MC and Rocchi, S and Rodemann, HP and Rodríguez de Córdoba, S and Rohrer, B and Roninson, IB and Rosen, K and Rost-Roszkowska, MM and Rouis, M and Rouschop, KM and Rovetta, F and Rubin, BP and Rubinsztein, DC and Ruckdeschel, K and Rucker, EB and Rudich, A and Rudolf, E and Ruiz-Opazo, N and Russo, R and Rusten, TE and Ryan, KM and Ryter, SW and Sabatini, DM and Sadoshima, J and Saha, T and Saitoh, T and Sakagami, H and Sakai, Y and Salekdeh, GH and Salomoni, P and Salvaterra, PM and Salvesen, G and Salvioli, R and Sanchez, AM and Sánchez-Alcázar, JA and Sánchez-Prieto, R and Sandri, M and Sankar, U and Sansanwal, P and Santambrogio, L and Saran, S and Sarkar, S and Sarwal, M and Sasakawa, C and Sasnauskiene, A and Sass, M and Sato, K and Sato, M and Schapira, AH and Scharl, M and Schätzl, HM and Scheper, W and Schiaffino, S and Schneider, C and Schneider, ME and Schneider-Stock, R and Schoenlein, PV and Schorderet, DF and Schüller, C and Schwartz, GK and Scorrano, L and Sealy, L and Seglen, PO and Segura-Aguilar, J and Seiliez, I and Seleverstov, O and Sell, C and Seo, JB and Separovic, D and Setaluri, V and Setoguchi, T and Settembre, C and Shacka, JJ and Shanmugam, M and Shapiro, IM and Shaulian, E and Shaw, RJ and Shelhamer, JH and Shen, HM and Shen, WC and Sheng, ZH and Shi, Y and Shibuya, K and Shidoji, Y and Shieh, JJ and Shih, CM and Shimada, Y and Shimizu, S and Shintani, T and Shirihai, OS and Shore, GC and Sibirny, AA and Sidhu, SB and Sikorska, B and Silva-Zacarin, EC and Simmons, A and Simon, AK and Simon, HU and Simone, C and Simonsen, A and Sinclair, DA and Singh, R and Sinha, D and Sinicrope, FA and Sirko, A and Siu, PM and Sivridis, E and Skop, V and Skulachev, VP and Slack, RS and Smaili, SS and Smith, DR and Soengas, MS and Soldati, T and Song, X and Sood, AK and Soong, TW and Sotgia, F and Spector, SA and Spies, CD and Springer, W and Srinivasula, SM and Stefanis, L and Steffan, JS and Stendel, R and Stenmark, H and Stephanou, A and Stern, ST and Sternberg, C and Stork, B and Strålfors, P and Subauste, CS and Sui, X and Sulzer, D and Sun, J and Sun, SY and Sun, ZJ and Sung, JJ and Suzuki, K and Suzuki, T and Swanson, MS and Swanton, C and Sweeney, ST and Sy, LK and Szabadkai, G and Tabas, I and Taegtmeyer, H and Tafani, M and Takács-Vellai, K and Takano, Y and Takegawa, K and Takemura, G and Takeshita, F and Talbot, NJ and Tan, KS and Tanaka, K and Tanaka, K and Tang, D and Tang, D and Tanida, I and Tannous, BA and Tavernarakis, N and Taylor, GS and Taylor, GA and Taylor, JP and Terada, LS and Terman, A and Tettamanti, G and Thevissen, K and Thompson, CB and Thorburn, A and Thumm, M and Tian, F and Tian, Y and Tocchini-Valentini, G and Tolkovsky, AM and Tomino, Y and Tönges, L and Tooze, SA and Tournier, C and Tower, J and Towns, R and Trajkovic, V and Travassos, LH and Tsai, TF and Tschan, MP and Tsubata, T and Tsung, A and Turk, B and Turner, LS and Tyagi, SC and Uchiyama, Y and Ueno, T and Umekawa, M and Umemiya-Shirafuji, R and Unni, VK and Vaccaro, MI and Valente, EM and Van den Berghe, G and van der Klei, IJ and van Doorn, W and van Dyk, LF and van Egmond, M and van Grunsven, LA and Vandenabeele, P and Vandenberghe, WP and Vanhorebeek, I and Vaquero, EC and Velasco, G and Vellai, T and Vicencio, JM and Vierstra, RD and Vila, M and Vindis, C and Viola, G and Viscomi, MT and Voitsekhovskaja, OV and von Haefen, C and Votruba, M and Wada, K and Wade-Martins, R and Walker, CL and Walsh, CM and Walter, J and Wan, XB and Wang, A and Wang, C and Wang, D and Wang, F and Wang, F and Wang, G and Wang, H and Wang, HG and Wang, HD and Wang, J and Wang, K and Wang, M and Wang, RC and Wang, X and Wang, X and Wang, YJ and Wang, Y and Wang, Z and Wang, ZC and Wang, Z and Wansink, DG and Ward, DM and Watada, H and Waters, SL and Webster, P and Wei, L and Weihl, CC and Weiss, WA and Welford, SM and Wen, LP and Whitehouse, CA and Whitton, JL and Whitworth, AJ and Wileman, T and Wiley, JW and Wilkinson, S and Willbold, D and Williams, RL and Williamson, PR and Wouters, BG and Wu, C and Wu, DC and Wu, WK and Wyttenbach, A and Xavier, RJ and Xi, Z and Xia, P and Xiao, G and Xie, Z and Xie, Z and Xu, DZ and Xu, J and Xu, L and Xu, X and Yamamoto, A and Yamamoto, A and Yamashina, S and Yamashita, M and Yan, X and Yanagida, M and Yang, DS and Yang, E and Yang, JM and Yang, SY and Yang, W and Yang, WY and Yang, Z and Yao, MC and Yao, TP and Yeganeh, B and Yen, WL and Yin, JJ and Yin, XM and Yoo, OJ and Yoon, G and Yoon, SY and Yorimitsu, T and Yoshikawa, Y and Yoshimori, T and Yoshimoto, K and You, HJ and Youle, RJ and Younes, A and Yu, L and Yu, L and Yu, SW and Yu, WH and Yuan, ZM and Yue, Z and Yun, CH and Yuzaki, M and Zabirnyk, O and Silva-Zacarin, E and Zacks, D and Zacksenhaus, E and Zaffaroni, N and Zakeri, Z and Zeh, HJ and Zeitlin, SO and Zhang, H and Zhang, HL and Zhang, J and Zhang, JP and Zhang, L and Zhang, L and Zhang, MY and Zhang, XD and Zhao, M and Zhao, YF and Zhao, Y and Zhao, ZJ and Zheng, X and Zhivotovsky, B and Zhong, Q and Zhou, CZ and Zhu, C and Zhu, WG and Zhu, XF and Zhu, X and Zhu, Y and Zoladek, T and Zong, WX and Zorzano, A and Zschocke, J and Zuckerbraun, B (2012) Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy , 8 (4) 445 - 544. |
| Knowles, JP and Shi-Wen, X and Haque, SU and Bhalla, A and Dashwood, MR and Yang, S and Taylor, I and Winslet, MC and Abraham, DJ and Loizidou, M (2012) Endothelin-1 stimulates colon cancer adjacent fibroblasts. Int J Cancer , 130 (6) 1264 - 1272. 10.1002/ijc.26090. |
| Krone, N and Reisch, N and Idkowiak, J and Dhir, V and Ivison, HE and Hughes, BA and Rose, IT and O'Neil, DM and Vijzelaar, R and Smith, MJ and MacDonald, F and Cole, TR and Adolphs, N and Barton, JS and Blair, EM and Braddock, SR and Collins, F and Cragun, DL and Dattani, MT and Day, R and Dougan, S and Feist, M and Gottschalk, ME and Gregory, JW and Haim, M and Harrison, R and Olney, AH and Hauffa, BP and Hindmarsh, PC and Hopkin, RJ and Jira, PE and Kempers, M and Kerstens, MN and Khalifa, MM and Köhler, B and Maiter, D and Nielsen, S and O'Riordan, SM and Roth, CL and Shane, KP and Silink, M and Stikkelbroeck, NM and Sweeney, E and Szarras-Czapnik, M and Waterson, JR and Williamson, L and Hartmann, MF and Taylor, NF and Wudy, SA and Malunowicz, EM and Shackleton, CH and Arlt, W (2012) Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab , 97 (2) E257 - E267. 10.1210/jc.2011-0640. |
L
| Le Quesne Stabej, P and Saihan, Z and Rangesh, N and Steele-Stallard, HB and Ambrose, J and Coffey, A and Emmerson, J and Haralambous, E and Hughes, Y and Steel, KP and Luxon, LM and Webster, AR and Bitner-Glindzicz, M (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet , 49 (1) 27 - 36. 10.1136/jmedgenet-2011-100468. |
| Lescai, F and Bonfiglio, S and Bacchelli, C and Chanudet, E and Waters, A and Sisodiya, SM and Kasperavičiūtė, D and Williams, J and Harold, D and Hardy, J and Kleta, R and Cirak, S and Williams, R and Achermann, JC and Anderson, J and Kelsell, D and Vulliamy, T and Houlden, H and Wood, N and Sheerin, U and Tonini, GP and Mackay, D and Hussain, K and Sowden, J and Kinsler, V and Osinska, J and Brooks, T and Hubank, M and Beales, P and Stupka, E (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292 . 10.1371/journal.pone.0051292. |
M
| Manwaring, V and Heywood, W and Heales, S and Mills, K (2012) IDENTIFICATION OF THE POTENTIAL URINARY BIOMARKER PROACTIVATOR POLYPEPTIDE IN FABRY DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S93 - S93. |
| Mattsson, N and Zegers, I and Andreasson, U and Bjerke, M and Blankenstein, MA and Bowser, R and Carrillo, MC and Gobom, J and Heath, T and Jenkins, R and Jeromin, A and Kaplow, J and Kidd, D and Laterza, OF and Lockhart, A and Lunn, MP and Martone, RL and Mills, K and Pannee, J and Ratcliffe, M and Shaw, LM and Simon, AJ and Soares, H and Teunissen, CE and Verbeek, MM and Umek, RM and Vanderstichele, H and Zetterberg, H and Blennow, K and Portelius, E (2012) Reference measurement procedures for Alzheimer's disease cerebrospinal fluid biomarkers: definitions and approaches with focus on amyloid β42. Biomark Med , 6 (4) 409 - 417. 10.2217/bmm.12.39. |
| Mazharian, A and Wang, Y-J and Mori, J and Bem, D and Finney, B and Heising, S and Gissen, P and White, JG and Berndt, MC and Gardiner, EE and Nieswandt, B and Douglas, MR and Campbell, RD and Watson, SP and Senis, YA (2012) Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function. Science Signaling , 5 (248) |
| Mckay, KE and Bruce, CK and Hunt, J and Hartley, JL and Hendriksz, CJ and Kelly, DA and Macdonald, F and Gissen, P (2012) MOLECULAR GENETIC TESTING FOR NIEMANN-PICK DISEASE TYPE C IN BIRMINGHAM. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S106 - S106). |
| Mead, EL and Mosley, A and Eaton, S and Dobson, L and Heales, SJ and Pocock, JM (2012) Microglial neurotransmitter receptors trigger superoxide production in microglia; consequences for microglial-neuronal interactions. J Neurochem , 121 (2) 287 - 301. 10.1111/j.1471-4159.2012.07659.x. |
| Michot, C and Hubert, L and Romero, NB and Gouda, A and Mamoune, A and Mathew, S and Kirk, E and Viollet, L and Rahman, S and Bekri, S and Peters, H and McGill, J and Glamuzina, E and Farrar, M and von der Hagen, M and Alexander, IE and Kirmse, B and Barth, M and Laforet, P and Benlian, P and Munnich, A and JeanPierre, M and Elpeleg, O and Pines, O and Delahodde, A and de Keyzer, Y and de Lonlay, P (2012) Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis , 35 (6) 1119 - 1128. 10.1007/s10545-012-9461-6. |
| Miletta, MC and Scheidegger, UA and Giordano, M and Bozzola, M and Pagani, S and Bona, G and Dattani, M and Hindmarsh, PC and Petkovic, V and Oser-Meier, M and Flück, CE and Mullis, PE (2012) Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. Clin Endocrinol (Oxf) , 76 (5) 683 - 690. 10.1111/j.1365-2265.2011.04267.x. |
| Mills, PB and Footitt, EJ and Ceyhan, S and Waters, PJ and Jakobs, C and Clayton, PT and Struys, EA (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. Journal of Inherited Metabolic Disease , 35 (6) 1031 - 1036. |
| Mills, PB and Footitt, EJ and Ceyhan, S and Waters, PJ and Jakobs, C and Clayton, PT and Struys, EA (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis , 35 (6) 1031 - 1036. 10.1007/s10545-012-9466-1. |
| Mohamed, Z and Arya, VB and Hussain, K (2012) Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol , 4 (4) 169 - 181. 10.4274/jcrpe.821. |
N
| Nahorski, MS and Seabra, L and Straatman-Iwanowska, A and Wingenfeld, A and Reiman, A and Lu, X and Klomp, JA and Teh, BT and Hatzfeld, M and Gissen, P and Maher, ER (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. |
| Nesbitt, V and Pitceathly, R and Cockell, S and Poulton, J and Rahman, S and Hanna, M and Turnbull, D and McFarland, R (2012) The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24). |
| Nessa, A and Kumaran, A and Kirk, R and Dalton, A and Ismail, D and Hussain, K (2012) Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 25 (9-10) 963 - 967. 10.1515/jpem-2012-0165. |
| Ng, J and Carr, LJ and Devile, C and Hemingway, C and Lewis, V and Mordekar, SR and Pall, H and Patel, J and Smith, M and Gissen, P and Clayton, P and Heales, SJR and Heales, SJR and Kurian, MA and Kurian, MA (2012) CLINICAL FEATURES OF PRIMARY DYSTONIAS AND OTHER MOVEMENT DISORDERS ASSOCIATED WITH SELECTIVE SEROTONIN DEFICIENCY (SSD). In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S19 - S19). |
| Ng, J and Tuschl, K and Carr, LJ and Cleary, M and Devlin, A and Manzur, A and Heales, SJR and Gissen, P and Clayton, P and Kurian, MA (2012) CLINICAL AND BIOCHEMICAL DELINEATION OF TH GENE-NEGATIVE SEVERE INFANTILE DOPAMINE DEFICIENCY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S139 - S139). |
P
| Padidela, R and Bennett, K and Nessa, A and Wells, J and Aufieri, R and James, C and Smith, VV and Brain, C and Eaton, S and Hussain, K (2012) Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis. Horm Res Paediatr , 77 (4) 261 - 268. 10.1159/000337248. |
| Padidela, R and Bryan, SM and Abu-Amero, S and Hudson-Davies, RE and Achermann, JC and Moore, GE and Hindmarsh, PC (2012) The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clin Endocrinol (Oxf) , 76 (2) 236 - 240. 10.1111/j.1365-2265.2011.04207.x. |
| Pandraud, A and Clayton, P and Foley, AR and Muntoni, F and Johnson, JO and Singleton, AB and Reilly, MM and Houlden, H (2012) INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S18 - S18. |
| Pandraud, A and Johnson, JO and Singleton, AB and Clayton, P and Land, J and Hargreaves, I and Foley, AR and Muntoni, F and Reilly, MM and Houlden, H (2012) Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies. In: NEUROMUSCULAR DISORDERS. (pp. S19 - S20). |
| Peters, CJ and Dattani, MT (2012) How to use insulin-like growth factor 1 (IGF1). Arch Dis Child Educ Pract Ed , 97 (3) 114 - 118. 10.1136/archdischild-2011-300265. |
| Pitceathly, RD and Murphy, SM and Cottenie, E and Chalasani, A and Sweeney, MG and Woodward, C and Mudanohwo, EE and Hargreaves, I and Heales, S and Land, J and Holton, JL and Houlden, H and Blake, J and Champion, M and Flinter, F and Robb, SA and Page, R and Rose, M and Palace, J and Crowe, C and Longman, C and Lunn, MP and Rahman, S and Reilly, MM and Hanna, MG (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. In: Neurology. (pp. 1145 - 1154). |
| Pitceathly, RD and Rahman, S and Hanna, MG (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscul Disord , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009. |
| Pitceathly, RDS and Murphy, SM and Cottenie, E and Chalasani, A and Sweeney, MG and Woodward, C and Mudanohwo, EE and Hargreaves, I and Heales, S and Land, J and Holton, JL and Houlden, H and Blake, J and Champion, M and Flinter, F and Robb, SA and Page, R and Palace, J and Crowe, C and Longman, C and Lunn, MP and Rahman, S and Reilly, MM and Hanna, MG (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY , 79 (11) 1145 - 1154. |
| Pitceathly, RDS and Rahman, S and Hanna, MG (2012) Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586. |
| Pitceathly, RDS and Tomlinson, SE and Hargreaves, I and Bhardwaj, N and Holton, JL and Evans, J and Smith, C and Fratter, C and Woodward, C and Sweeney, MG and Hanna, MG and Rahman, S (2012) NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S119 - S119). |
| Prasov, L and Masud, T and Khaliq, S and Mehdi, SQ and Abid, A and Oliver, ER and Silva, ED and Lewanda, A and Brodsky, MC and Borchert, M and Kelberman, D and Sowden, JC and Dattani, MT and Glaser, T (2012) ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet , 21 (16) 3681 - 3694. 10.1093/hmg/dds197. |
R
| Rafeullah, N and Cackett, N and Hussain, K (2012) Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus. Horm Res Paediatr , 78 (5-6) 332 - 335. 10.1159/000337254. |
| Rahman, S (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol , 54 (5) 397 - 406. 10.1111/j.1469-8749.2011.04214.x. |
| Rahman, S and Clarke, CF and Hirano, M (2012) 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency. Neuromuscul Disord , 22 (1) 76 - 86. 10.1016/j.nmd.2011.05.001. |
| Rahman, S and Ecob, R and Costello, H and Sweeney, MG and Duncan, AJ and Pearce, K and Strachan, D and Forge, A and Davis, A and Bitner-Glindzicz, M (2012) Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. BMJ Open , 2 e000411 - ?. 10.1136/bmjopen-2011-000411. |
| Raivio, T and Avbelj, M and McCabe, MJ and Romero, CJ and Dwyer, AA and Tommiska, J and Sykiotis, GP and Gregory, LC and Diaczok, D and Tziaferi, V and Elting, MW and Padidela, R and Plummer, L and Martin, C and Feng, B and Zhang, C and Zhou, QY and Chen, H and Mohammadi, M and Quinton, R and Sidis, Y and Radovick, S and Dattani, MT and Pitteloud, N (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab , 97 (4) E694 - E699. 10.1210/jc.2011-2938. |
| Ronchi, D and Sciacco, M and Bordoni, A and Raimondi, M and Ripolone, M and Fassone, E and Di Fonzo, A and Rizzuti, M and Ciscato, P and Cosi, A and Servida, M and Moggio, M and Corti, S and Bresolin, N and Comi, GP (2012) The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment. Eur J Hum Genet , 20 (3) 357 - 360. 10.1038/ejhg.2011.238. |
S
| Salmi, H and Leonard, JV and Rahman, S and Lapatto, R (2012) Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest , 72 (2) 152 - 157. 10.3109/00365513.2011.646299. |
| Sechi, A and Ellerton, C and Peters, C and Gissen, P and Mundy, H and Lachmann, RH and Murphy, E (2012) INSULIN RESISTANCE AND DIABETES IN GLYCOGEN STORAGE DISEASE: PRESENTATION OF 5 CLINICAL CASES. JOURNAL OF INHERITED METABOLIC DISEASE , 35 S77 - S77. |
| Senniappan, S and Hine, P and Tang, W and Campbell, J and Bone, M and Sankar, V and Robinson, M and Smith, C and Cooper, C and Amin, R and Network, NWEPD (2012) The effect of socioeconomic deprivation on efficacy of continuous subcutaneous insulin infusion: a retrospective paediatric case-controlled survey. EUROPEAN JOURNAL OF PEDIATRICS , 171 (1) 59 - 65. 10.1007/s00431-011-1482-x. |
| Senniappan, S and Shanti, B and James, C and Hussain, K (2012) Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis , 35 (4) 589 - 601. 10.1007/s10545-011-9441-2. |
| Shahni, R and Gnudi, L and King, A and Jones, P and Malik, AN (2012) Elevated levels of renal and circulating Nop-7-associated 2 (NSA2) in rat and mouse models of diabetes, in mesangial cells in vitro and in patients with diabetic nephropathy. Diabetologia , 55 825 - 834. |
| Sharma, G. (2012) Methods for the measurement of urinary biomarkers of oxidative stressapplication to type 1 diabetes mellitus. Doctoral thesis, UCL (University College London). |
| Shaw-Smith, C and Flanagan, SE and Patch, A-M and Grulich-Henn, J and Habeb, AM and Hussain, K and Pomahacova, R and Matyka, K and Abdullah, M and Hattersley, AT and Ellard, S (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. PEDIATRIC DIABETES , 13 (4) 307 - 314. 10.1111/j.1399-5448.2012.00855.x. |
| Smith, H and Galmes, R and Gogolina, E and Straatman-Iwanowska, A and Reay, K and Banushi, B and Bruce, CK and Cullinane, AR and Romero, R and Chang, R and Ackermann, O and Baumann, C and Cangul, H and Cakmak Celik, F and Aygun, C and Coward, R and Dionisi-Vici, C and Sibbles, B and Inward, C and Ae Kim, C and Klumperman, J and Knisely, AS and Watson, SP and Gissen, P (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation , 33 (12) 1656 - 1664. |
| Stamelou, M and Tuschl, K and Chong, WK and Burroughs, AK and Mills, PB and Bhatia, KP and Clayton, PT (2012) Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord , 27 (10) 1317 - 1322. 10.1002/mds.25138. |
| Stamelou, M and Tuschl, K and Mills, P and Chong, K and Burroughs, A and Clayton, P and Bhatia, K (2012) Early-onset dystonia with brain manganese accumulation due to SLC30A10 mutations: a new treatable disorder. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 297 - 297). |
| Sun, Y and Bak, B and Schoenmakers, N and van Trotsenburg, AS and Oostdijk, W and Voshol, P and Cambridge, E and White, JK and le Tissier, P and Gharavy, SN and Martinez-Barbera, JP and Stokvis-Brantsma, WH and Vulsma, T and Kempers, MJ and Persani, L and Campi, I and Bonomi, M and Beck-Peccoz, P and Zhu, H and Davis, TM and Hokken-Koelega, AC and Del Blanco, DG and Rangasami, JJ and Ruivenkamp, CA and Laros, JF and Kriek, M and Kant, SG and Bosch, CA and Biermasz, NR and Appelman-Dijkstra, NM and Corssmit, EP and Hovens, GC and Pereira, AM and den Dunnen, JT and Wade, MG and Breuning, MH and Hennekam, RC and Chatterjee, K and Dattani, MT and Wit, JM and Bernard, DJ (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet , 44 (12) 1375 - 1381. 10.1038/ng.2453. |
| Sun, Y and Bak, B and Schoenmakers, N and Van Trotsenburg, ASP and Oostdijk, W and Voshol, P and Cambridge, E and White, JK and Le Tissier, P and Gharavy, SNM and Martinez-Barbera, JP and Stokvis-Brantsma, WH and Vulsma, T and Kempers, MJ and Persani, L and Campi, I and Bonomi, M and Beck-Peccoz, P and Zhu, H and Davis, TME and Hokken-Koelega, ACS and Del Blanco, DG and Rangasami, JJ and Ruivenkamp, CAL and Laros, JFJ and Kriek, M and Kant, SG and Bosch, CAJ and Biermasz, NR and Appelman-Dijkstra, NM and Corssmit, EP and Hovens, GCJ and Pereira, AM and Den Dunnen, JTD and Wade, MG and Breuning, MH and Hennekam, RC and Chatterjee, K and Dattani, MT and Wit, JM and Bernard, DJ (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nature Genetics , 44 (12) 1375 - 1381. |
T
| Tantawy, S and Lin, L and Akkurt, I and Borck, G and Klingmüller, D and Hauffa, BP and Krude, H and Biebermann, H and Achermann, JC and Köhler, B (2012) Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol , 167 (1) 125 - 130. 10.1530/EJE-11-0944. |
| Thomas, AC and Frost, JM and Ishida, M and Vargha-Khadem, F and Moore, GE and Stanier, P (2012) The speech gene FOXP2 is not imprinted. Journal of Medical Genetics , 49 (11) 669 - 670. |
| Thomas, AC and Frost, JM and Ishida, M and Vargha-Khadem, F and Moore, GE and Stanier, P (2012) The speech gene FOXP2 is not imprinted. J Med Genet , 49 (11) 669 - 670. 10.1136/jmedgenet-2012-101242. |
| Turton, JP and Strom, M and Langham, S and Dattani, MT and Le Tissier, P (2012) Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. Clin Endocrinol (Oxf) , 76 (3) 387 - 393. 10.1111/j.1365-2265.2011.04236.x. |
| Tuschl, K and Clayton, PT and Gospe, SM and Gulab, S and Ibrahim, S and Singhi, P and Aulakh, R and Ribeiro, RT and Barsottini, OG and Zaki, MS and Del Rosario, ML and Dyack, S and Price, V and Rideout, A and Gordon, K and Wevers, RA and Chong, WK and Mills, PB (2012) Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet , 90 (3) 457 - 466. 10.1016/j.ajhg.2012.01.018. |
W
| Webb, EA and O'Reilly, MA and Clayden, JD and Seunarine, KK and Chong, WK and Dale, N and Salt, A and Clark, CA and Dattani, MT (2012) Effect of growth hormone deficiency on brain structure, motor function and cognition. Brain , 135 (1) 216 - 227. |
| Webb, EA and O'Reilly, MA and Clayden, JD and Seunarine, KK and Chong, WK and Dale, N and Salt, A and Clark, CA and Dattani, MT (2012) Effect of growth hormone deficiency on brain structure, motor function and cognition. Brain , 135 (Pt 1) 216 - 227. 10.1093/brain/awr305. |
| Wedatilake, Y and Brown, RM and McFarland, R and Chakrapani, A and Morris, AA and Champion, MP and Jardine, PE and Dobbie, A and Hanrahan, D and Simmons, L and Collins, JE and Brown, GK and Rahman, S (2012) SURF1 DEFICIENCY: NATURAL HISTORY STUDY OF A UK COHORT. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S116 - S116). |
| Woodward, C and Sweeney, MG and Pitceathly, RDS and Mudanohwo, EE and Hughes, D and Pittman, A and Houlden, H and Rahman, S and Hanna, MG (2012) Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases. In: JOURNAL OF MEDICAL GENETICS. (pp. S116 - S116). |


