UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | J | K | L | M | N | P | R | S | T | V | W | X | Z
Number of items: 104.

A

Abeti, R; Duchen, MR; (2012) Activation of PARP by Oxidative Stress Induced by β-Amyloid: Implications for Alzheimer's Disease. Neurochemical Research pp. 1-8.

Acharya, S; Nagy, A; Budu, C; Treacy, C; Fearnley, J; Lees, AJ; Giovannoni, G; (2012) The new bradykinesia akinesia incoordination (BRAIN) test: People with Parkinson's disease versus healthy controls. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S102-S102). WILEY-BLACKWELL

Ahmed, Z; Revesz, T; Holton, JL; (2012) Neuropathology and pathophysiology of multiple system atrophy Response. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 38 (4) p. 381. 10.1111/j.1365-2990.2012.01266.x.

Ahmed, Z; Revesz, T; Holton, JL; (2012) Neuropathology and pathophysiology of multiple system atrophy Response. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 38 (4) p. 381. 10.1111/j.1365-2990.2012.01266.x.

Apaydin, H; Benbir, G; Lees, A; (2012) A stimulus-sensitive tic disorder characterized by echophenomena and coprolalia. Mov Disord , 27 (1) pp. 159-160. 10.1002/mds.23952.

B

Baruch, N; Duchen, M; Hanna, MG; (2012) Muscle degeneration in ion channel dysfunction. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S16-S16). PERGAMON-ELSEVIER SCIENCE LTD

Brady, S; Squier, W; Hilton-Jones, D; Sewry, C; Hanna, M; Holton, JL; (2012) A histological evaluation of protein accumulation in inflammatory myopathies. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S27-S27). PERGAMON-ELSEVIER SCIENCE LTD

Brady, S; Squier, W; Hilton-Jones, D; Sewry, C; Holton, JL; (2012) INCLUSION BODY MYOSITIS: A DIAGNOSTIC CHALLENGE. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. B M J PUBLISHING GROUP

Burge, J; Schorge, S; Hanna, MG; (2012) Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S16-S16). PERGAMON-ELSEVIER SCIENCE LTD

C

Camargos, S; Lees, AJ; Singleton, A; Cardoso, F; (2012) DYT16: The original cases. Journal of Neurology, Neurosurgery and Psychiatry , 83 (10) pp. 1012-1014. 10.1136/jnnp-2012-302841.

Camargos, S; Lees, AJ; Singleton, A; Cardoso, F; (2012) DYT16: the original cases. J Neurol Neurosurg Psychiatry , 83 (10) pp. 1012-1014. 10.1136/jnnp-2012-302841.

Cardoso, F; Vale, T; Lees, A; (2012) Gowers' Queen Square Case Notes on Chorea. In:

Charlesworth, G; Gandhi, S; Bras, JM; Gentleman, SM; Guerreiro, R; Hardy, J; Holton, JL; ... Wood, NW; + view all (2012) First stage association analysis of neuropatholically proven PD confirms MAPT as an independent risk factor for PD. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S450-S451). WILEY-BLACKWELL

Charlesworth, G; Wood, NW; (2012) Mutations in nuclear genes that affect mitochondrial function in parkinson’s disease. In: Mitochondrial Dysfunction in Neurodegenerative Disorders. (pp. 43-61).

Crehan, H; Hardy, J; Pocock, J; (2012) Microglia, Alzheimer's disease, and complement. Int J Alzheimers Dis , 2012 983640-. 10.1155/2012/983640. Gold open access

D

Ding, S; Riddoch-Contreras, J; Abramov, AY; Qi, Z; Duchen, MR; (2012) Erratum to: Mild stress of caffeine increased mtDNA content in skeletal muscle cells: the interplay between Ca(2+) transients and nitric oxide. J Muscle Res Cell Motil , 33 (5) 339-. 10.1007/s10974-012-9327-4.

E

Eadie, MJ; Scott, AEM; Lees, AJ; Woodward, M; (2012) William Gowers: the never completed third edition of the 'Bible of Neurology'. Brain , 135 (Pt 10) pp. 3178-3188. 10.1093/brain/aws181.

Esteras, N; Bartolomé, F; Alquézar, C; Antequera, D; Muñoz, Ú; Carro, E; Martín-Requero, Á; (2012) Altered cell cycle-related gene expression in brain and lymphocytes from a transgenic mouse model of Alzheimer's disease [amyloid precursor protein/presenilin 1 (PS1)]. Eur J Neurosci , 36 (5) pp. 2609-2618. 10.1111/j.1460-9568.2012.08178.x.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. Journal of Neurology , 259 (12) pp. 2726-2728. 10.1007/s00415-012-6642-z.

F

Fassone, E; Taanman, JW; Sweeney, MG; Woodward, C; Hargreaves, IP; Hanna, MG; Taylor, RW; ... Rahman, S; + view all (2012) WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME. In: (pp. S13-S13). SPRINGER

Fawcett, KA; Murphy, SM; Polke, JM; Wray, S; Burchell, VS; Manji, H; Quinlivan, RM; ... Houlden, H; + view all (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 83 (12) pp. 1204-1209. 10.1136/jnnp-2012-303055.

G

Gardiner, A; Kullmann, D; Wood, N; Ptacek, L; Houlden, H; Hanna, M; (2012) Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S17-S17). PERGAMON-ELSEVIER SCIENCE LTD

Graves, T; Cha, Y-H; Hahn, A; Barohn, R; Amato, A; Griggs, R; Bundy, B; ... Hanna, M; + view all (2012) Episodic Ataxia Type 1: Characterization of the Disease and Its Effect on Quality of Life. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Graves, T; Fialho, D; Smith, S; Cha, Y-H; Amato, A; Griggs, R; Bundy, B; ... Hanna, M; + view all (2012) EEG Abnormalities in the Episodic Ataxias. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Gray, A; Nirmalananthan, N; Malik, B; Dick, J; Hanna, M; Greensmith, L; (2012) Targeting the endogenous stress response in a mouse model of SBMA. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S12-S12). PERGAMON-ELSEVIER SCIENCE LTD

Guerreiro, RJ; Hardy, J; (2012) TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. Arch Neurol , 69 (10) pp. 1243-1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; Dursun, B; ... Hardy, J; + view all (2012) Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement. Arch Neurol pp. 1-7. 10.1001/archneurol.2013.579.

H

Hanna, MG; Kullmann, DM; (2012) Channelopathies. pp. 121-135. 10.1017/CBO9781139087711.009.

Hardy, J; (2012) Alzheimer’s disease and related dementias. pp. 17-31. 10.1017/CBO9781139087711.003.

Hersheson, JS; Mencacci, NE; Giunti, P; Wood, N; Houlden, H; (2012) Screening a UK cohort for spinocerebellar ataxia type 36 (SCA36). In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S183-S183). WILEY-BLACKWELL

Hobart, JC; Cano, SJ; Warner, TT; Thompson, AJ; (2012) What sample sizes for reliability and validity studies in neurology? Journal of Neurology pp. 1-14.

Holmstrom, KM; Baird, L; Dinkova-Kostova, AT; Abramov, AY; (2012) Nrf2 Controls Mitochondrial Bioenergetics. BIOPHYSICAL JOURNAL , 102 (3) 573A-573A. 10.1016/j.bpj.2011.11.3119.

Horga, A; Rayan, DLR; Haworth, A; Matthews, E; Fialho, D; Sud, R; Portaro, S; ... Hanna, MG; + view all (2012) Prevalence study of skeletal muscle channelopathies in England. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S17-S17). PERGAMON-ELSEVIER SCIENCE LTD

Horga, A; Rayan, DLR; Matthews, E; Fialho, D; Sud, R; Haworth, A; Portaro, S; ... Hanna, MG; + view all (2012) PREVALENCE STUDY OF SKELETAL MUSCLE CHANNELOPATHIES IN ENGLAND. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. B M J PUBLISHING GROUP

J

Jaffer, F; Graves, T; Gibbons, V; Gardiner, A; Hersheson, J; Hanna, M; Houlden, H; (2012) Episodic ataxia: screening candidate genes and genetic analysis of families. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S17-S17). PERGAMON-ELSEVIER SCIENCE LTD

Jaffer, F; Reilly, MM; Quinlivan, RR; Muntoni, F; Orrell, R; Wraige, E; Saha, R; ... Hanna, M; + view all (2012) AVOIDING UNPLANNED HOSPITAL ADMISSIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES: A REGIONAL COLLABORATIVE AUDIT OF HOSPITAL ADMISSIONS. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. BMJ PUBLISHING GROUP

K

Kamynina, AV; Holmstrom, KM; Koroev, DO; Volpina, OM; Abramov, AY; (2012) Anti-peptide antibodies to synthetic fragments of alpha7-subunit acetylcholine receptor or prion protein protect cells against beta-amyloid toxicity. JOURNAL OF PEPTIDE SCIENCE , 18 S136-S136.

Kara, E; Xiromerisiou, G; Paudel, R; Revesz, T; Holton, J; Lees, A; Wood, N; ... Houlden, H; + view all (2012) Comprehensive genetic investigation of NBIA and complex dystonia-parkinsonism. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S459-S459). WILEY-BLACKWELL

Kojovic, M; Sheerin, U; Rubio-Agusti, I; Bras, J; Wood, N; Houlden, H; Hardy, J; (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Korkodilos, M; Hajioff, S; Gardner, C; Overett, S; Ibrahim, S; Jaffer, F; Hanna, MG; (2012) Audit of unplanned admissions in neuromuscular patients: a collaborative audit. Audit, Information and Analysis Unit / London Specialised Commissioning Group / MRC Centre for Neuromuscular Diseases: United Kingdom. Green open access
file

Kovac, S; Hamil, N; Williams, S; Domijan, A; Walker, MC; Abramov, AY; (2012) SEIZURE ACTIVITY GENERATES CALCIUM-INDEPENDENT REACTIVE OXYGEN SPECIES VIA NADPH OXIDASE AND XANTHINE OXIDASE. In: (Proceedings) 10th European Congress on Epileptology. (pp. p. 178). WILEY-BLACKWELL

Kruer, M; Jepperson, T; Steiner, R; Russman, B; Blasco, P; Fan, G; Pollock, J; ... Houlden, H; + view all (2012) Mutations in ADD3 Lead to Inherited Forms of Spastic Diplegia and Spastic Quadriplegia. In: (Proceedings) 137th Annual Meeting of the American-Neurological-Association (ANA). (pp. S218-S218). WILEY-BLACKWELL

Kruer, MC; Paudel, R; Wagoner, W; Sanford, L; Kara, E; Gregory, A; Foltynie, T; ... Houlden, H; + view all (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. NEUROSCIENCE LETTERS , 523 (1) pp. 35-38. 10.1016/j.neulet.2012.06.036.

Krut, JJ; Zetterberg, H; Blennow, K; Cinque, P; Hagberg, L; Price, RW; Studahl, M; (2012) Cerebrospinal fluid Alzheimer's biomarker profiles in CNS infections. Journal of Neurology pp. 1-7.

König, J; McGlincy, NJ; Ule, J; (2012) Analysis of Protein-RNA Interactions with Single-Nucleotide Resolution Using iCLIP and Next-Generation Sequencing. pp. 153-169. 10.1002/9783527644582.ch10.

L

Lee, H-Y; Huang, Y; Edwards, R; Hanna, M; Bowcock, A; Szepetowski, P; Fu, Y-H; (2012) Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. NEUROLOGY , 78 Gold open access

Lees, A; (2012) East meets west to provide the best for PD patients. Focus on Parkinson's Disease , 23 (1) 2-.

Lees, A; (2012) Two decades of evolving care with pump therapies - What have we learned? European Neurological Review , 7 (SUPPL.1) pp. 5-7.

Lees, A; Costa, R; Oliveira, C; Lopes, N; Nunes, T; Soares-da-Silva, P; (2012) Design of a double-blind, placebo-controlled, phase-III trial in patients with Parkinson's disease and end-of-dose motor fluctuations: opicapone superiority vs. placebo. In: (pp. p. 695).

Lees, A; Costa, R; Oliveira, C; Lopes, N; Nunes, T; Soares-da-Silva, P; (2012) The design of a double-blind, placebo-controlled, multi-national phase-III trial in patients with Parkinson's disease and end-of-dose motor fluctuations: Opicapone superiority vs. placebo. In: (pp. S127-S127).

Lees, AJ; (2012) Impact Commentaries. A modern perspective on the top 100 cited JNNP papers of all time: The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease: accuracy of clinical diagnosis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry , 83 (10) pp. 954-955. 10.1136/jnnp-2012-302969.

Lees, AJ; Woodward, RMP; Scott, AEM; Eadie, MJ; (2012) W R Gowers 1895: two unpublished post-graduate lectures. Brain , 135 (Pt 10) pp. 3165-3177. 10.1093/brain/aws029.

Lin, MT; Cantuti-Castelvetri, I; Lees, AJ; Beal, MF; Simon, DK; (2012) Reply. Annals of Neurology , 72 (5) pp. 823-824. 10.1002/ana.23739.

Lin, MT; Cantuti-Castelvetri, I; Lees, AJ; Beal, MF; Simon, DK; (2012) Somatic Mitochondrial DNA Mutations and Parkinsonism Reply. ANNALS OF NEUROLOGY , 72 (5) pp. 823-824. 10.1002/ana.23739.

Ling, H; Massey, L; Lees, A; Brown, P; Day, B; (2012) Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. MOVEMENT DISORDERS , 27 S384-S385.

Ling, H; Massey, LA; Lees, AJ; Brown, P; Day, BL; (2012) Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. Brain , 135 (Pt 4) 1141 - 1153. 10.1093/brain/aws038.

Ling, H; Petrovic, I; Day, BL; Lees, AJ; (2012) Smoking-induced transient motor deterioration in a levodopa-treated patient with Parkinson's disease. JOURNAL OF NEUROLOGY , 259 (11) pp. 2419-2423. 10.1007/s00415-012-6515-5.

Ling, H; de Silva, R; Courtney, R; Massey, L; Bajaj, N; Lowe, J; Holton, J; ... Revesz, T; + view all (2012) Clinicopathological study of progressive supranuclear palsy presenting with corticobasal syndrome. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S384-S384). WILEY-BLACKWELL

Luk, C; Compta, Y; Magdalinou, N; Marti, MJ; Hondhamuni, G; Zetterberg, H; Blennow, K; ... de Silva, R; + view all (2012) Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies. Journal of Neurochemistry 10.1111/j.1471-4159.2012.07911.x.

M

Magdalinou, NK; Luk, C; Compta, Y; Marti, MJ; Lees, AJ; de Silva, R; (2012) Novel method for quantification of 3R-and 4R-tau isoforms in the cerebrospinal fluid of patients with atypical parkinsonian syndromes. In: (pp. S385-S386).

Matthews, E; Plotz, PH; Portaro, S; Parton, M; Elliott, P; Humbel, RL; Holton, JL; ... Hanna, MG; + view all (2012) A case of necrotizing myopathy with proximal weakness and cardiomyopathy. NEUROLOGY , 78 (19) pp. 1527-1532. 10.1212/WNL.0b013e3182553baa.

Mattsson, N; Zetterberg, H; Bianconi, S; Yanjanin, NM; Fu, R; Månsson, J-E; Porter, FD; (2012) Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep , 3 pp. 45-52. 10.1007/8904_2011_47.

N

Nesbitt, V; Pitceathly, R; Cockell, S; Poulton, J; Rahman, S; Hanna, M; Turnbull, D; (2012) The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S24-S24). PERGAMON-ELSEVIER SCIENCE LTD

Noyce, A; Treacy, C; Budu, C; Fearnley, J; Lees, AJ; Giovannoni, G; (2012) THE NEW BRADYKINESIA AKINESIA INCOORDINATION (BRAIN) TEST: AN ONLINE TEST OF UPPER LIMB MOVEMENT. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. BMJ PUBLISHING GROUP

Noyce, AJ; Silveira-Moriyama, L; Gilpin, P; Ling, H; Howard, R; Lees, A; (2012) Severe dysphagia as a presentation of Parkinson's disease. Movement Disorders , 27 (3) pp. 457-458.

P

Pandraud, A; Clayton, P; Foley, AR; Muntoni, F; Johnson, JO; Singleton, AB; Reilly, MM; (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.

Peall, K; Waite, A; Kurian, M; Wardle, M; Hedderly, T; Lin, JP; Smith, M; ... Morris, H; + view all (2012) Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease. In: (Proceedings) 22nd Meeting of the European-Neurological-Society. (pp. S30-S30). SPRINGER HEIDELBERG

Peall, K; Waite, AJ; Kurian, MA; Hedderly, T; Smith, M; Lin, JP; Warner, TT; ... Morris, HR; + view all (2012) MYOCLONUS DYSTONIA: A CLINICAL AND GENETIC DESCRIPTION. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. B M J PUBLISHING GROUP

Plagnol, V; Curtis, J; Epstein, M; Mok, K; Stebbings, E; Grigoriadou, S; Wood, N; ... Nejentsev, S; + view all (2012) NEW POWERFUL SOFTWARE FOR COPY NUMBER ANALYSIS OF EXOME SEQUENCE DATA, EXOMEDEPTH, DISCOVERS NOVEL MUTATIONS IN PRIMARY IMMUNODEFICIENCY PATIENTS. In: (Proceedings) 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID). (pp. p. 216). SPRINGER/PLENUM PUBLISHERS

Plessy, C; Pascarella, G; Bertin, N; Akalin, A; Carrieri, C; Vassalli, A; Lazarevic, D; ... Carninci, P; + view all (2012) Promoter architecture of mouse olfactory receptor genes. Genome Research , 22 (3) pp. 486-497. 10.1101/gr.126201.111.

Polke, J; Mencacci, N; Stamelou, M; Sweeney, MG; Manji, H; Wood, NW; Bhatia, KP; (2012) Transcript analysis of a variably-penetrant GTP cyclohydrolase intronic splicing mutation. In: (Proceedings) British Human Genetics Conference. (pp. S92-S92). BMJ PUBLISHING GROUP

Preza, E; Wray, S; Mahoney, C; Ryan, N; Liang, Y; Isaacs, A; Chio, A; ... Rossor, M; + view all (2012) Creation of a Fibroblast Resource for Dementia Research. In: (Proceedings) 8th International Conference on Frontotemporal Dementias. (pp. p. 65). KARGER

R

Raheem, O; Penttila, S; Suominen, T; Kaakinen, M; Burge, J; Haworth, A; Sud, R; ... Udd, B; + view all (2012) New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. NEUROLOGY , 79 (22) pp. 2194-2200. 10.1212/WNL.0b013e31827595e2.

Rayan, DLR; Matthews, E; Barreto, G; Tan, SV; Dewar, L; Burge, J; Wang, Y; ... Hanna, MG; + view all (2012) Efficacy of mexiletine in non-dystrophic myotonia: results of an international multi-centred randomised controlled trial. In: (Proceedings) United Kingdom Neuromuscular Translational Research Conference. (pp. S4-S4). PERGAMON-ELSEVIER SCIENCE LTD

Rayan, DR; Barohn, RJ; Bundy, B; Wang, Y; Herbelin, L; Trivedi, J; Venance, S; ... Hanna, MG; + view all (2012) MEXILETINE IS AN EFFECTIVE TREATMENT IN NON-DYSTROPHIC MYOTONIA. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. BMJ PUBLISHING GROUP

Rayan, DR; Haworth, A; Sud, R; Matthews, E; Fialho, D; Burge, J; Portaro, S; ... Hanna, MG; + view all (2012) SKELETAL MUSCLE CHLORIDE CHANNEL GENE (CLCN1) COPY NUMBER VARIATION CAN CAUSE MYOTONIA CONGENITA. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. BMJ PUBLISHING GROUP

Rayan, DR; Haworth, A; Sud, R; McCall, S; Tan, SV; Durran, S; Davis, M; (2012) IDENTIFYING THE CAUSE OF PHENOTYPIC VARIABILITY IN A FAMILY WITH NON-DYSTROPHIC MYOTONIA. In: (Proceedings) Annual Meeting of the Association-of-British-Neurologists. B M J PUBLISHING GROUP

Ricotti, V; Scoto, M; Mandy, WPL; Entwistle, K; Robb, SA; Mercuri, E; Skuse, DH; (2012) Neurobehavioural disorders in Duchenne Muscular Dystrophy. In: (Proceedings) 17th International Congress of the World-Muscle-Society (WMS). (pp. p. 887). PERGAMON-ELSEVIER SCIENCE LTD

Rodrigues, M; Santos, A; de la Torre, BG; Rádis-Baptista, G; Andreu, D; Santos, NC; (2012) Molecular characterization of the interaction of crotamine-derived nucleolar targeting peptides with lipid membranes. Biochimica et Biophysica Acta (BBA) - Biomembranes , 1818 (11) pp. 2707-2717. 10.1016/j.bbamem.2012.06.014.

S

Schneider, SA; Mummery, CJ; Mehrabian, M; Houlden, H; Bain, PG; (2012) Hereditary spastic paraplegia, thin corpus callosum and tremor. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S420-S420). WILEY-BLACKWELL

Schneider, SA; Mummery, CJ; Mehrabian, M; Houlden, H; Bain, PG; (2012) SPG11 Presenting with Tremor. Tremor Other Hyperkinet Mov (N Y) , 2

Seth, J; Sahai, A; Lashley, T; Apostolidis, A; Panicker, J; Dasgupta, P; Fowler, C; (2012) ROLE OF INTERSTITIAL CELLS IN DETRUSOR OVERACTIVITY. JOURNAL OF ENDOUROLOGY , 26 A424-A425.

Sibley, CR; Attig, J; Ule, J; (2012) The greatest catch: big game fishing for mRNA-bound proteins. Genome Biology , 13 (7) p. 163. 10.1186/gb-2012-13-7-163.

Sinclair, CDJ; Morrow, JM; Hanna, MG; Koltzenburg, M; Yousry, TA; Reilly, MM; Thornton, JS; ... Mehta, H; + view all (2012) Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. Journal of Neurology, Neurosurgery and Psychiatry , 83 (1) 29 - 32. 10.1136/jnnp.2011.246116.

Sinclair, CDJ; Morrow, JM; Hanna, MG; Reilly, MM; Yousry, TA; Thornton, JS; Golay, X; (2012) Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR in Biomedicine , 25 (2) 262 - 270. 10.1002/nbm.1744.

Soreq, L; Bergman, H; Goll, Y; Greenberg, DS; Israel, Z; Soreq, H; (2012) Deep brain stimulation induces rapidly reversible transcript changes in Parkinson's leucocytes. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE , 16 (7) pp. 1496-1507. 10.1111/j.1582-4934.2011.01444.x.

Soreq, L; Bergman, H; Israel, Z; Soreq, H; (2012) Exon Arrays Reveal Alternative Splicing Aberrations in Parkinson's Disease Leukocytes. NEURODEGENERATIVE DISEASES , 10 (1-4) pp. 203-206. 10.1159/000332598.

Stamelou, M; Mencacci, N; Cordivari, C; Batla, A; Houlden, H; Wood, N; Hardy, J; (2012) Myoclonic dystonia syndrome due to tyrosine hydroxylase deficiency. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S201-S201). WILEY-BLACKWELL

Statland, J; Salajegheh, M; Bundy, B; Wang, Y; Rayan, DR; Trivedi, J; Sansone, V; ... Hanna, M; + view all (2012) Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia: Secondary Outcomes Show Improvement in Symptoms and Signs of Myotonia. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Statland, JM; Bundy, BN; Wang, Y; Rayan, DR; Trivedi, JR; Sansone, VA; Salajegheh, MK; ... Consortium for Clinical Investigation of Neurologic Channelopathies, ; + view all (2012) Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA , 308 (13) 1357 - 1365. 10.1001/jama.2012.12607.

Stein, JL; Medland, SE; Vasquez, AA; Hibar, DP; Senstad, RE; Winkler, AM; Toro, R; ... Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium, ; + view all (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet , 44 (5) 552 - 561. 10.1038/ng.2250.

T

Taba, P; Lees, AJ; Stern, G; (2012) Erich Harnack and apomorphine: An historical insight. In: (pp. S88-S88).

Teive, HAG; Germiniani, FMB; Munhoz, RP; Lees, AJ; (2012) Letters from Dom Pedro II to professor Brown-Séquard: Imperial correspondence and neurophysiology. Arquivos de Neuro-Psiquiatria , 70 (8) pp. 633-636. 10.1590/S0004-282X2012000800014. Gold open access

Teive, HAG; Germiniani, FMB; Munhoz, RP; Lees, AJ; (2012) Letters from Dom Pedro II to professor Brown-Séquard: imperial correspondence and neurophysiology. Arq Neuropsiquiatr , 70 (8) pp. 633-636. Gold open access

Thomas, ERA; Vandrovcova, J; Atanur, SS; Norsworthy, PJ; Neuwirth, C; Tan, Y; Game, L; ... Aitman, TJ; + view all (2012) Diagnosis of known and novel variants causing familial hypercholesterolaemia using high-throughput sequencing. In: (Proceedings) British Human Genetics Conference. (pp. S114-S114). BMJ PUBLISHING GROUP

Tollervey, J; Ule, J; (2012) The CLIP Method to Study Protein-RNA Interactions in Intact Cells and Tissues. pp. 268-278. 10.1002/9783527636778.ch25.

Tomlinson, SE; Bostock, H; Grinton, B; Hanna, MG; Kullmann, DM; Kiernan, MC; Scheffer, IE; ... Burke, D; + view all (2012) In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. Brain , 135 (Pt 10) pp. 3144-3152. 10.1093/brain/aws241.

Trivedi, J; Bundy, B; Rayan, DR; Salajegheh, M; Statland, J; Venance, S; Wang, Y; ... Barohn, R; + view all (2012) Clinical and Molecular Characterization of Non-Dystrophic Myotonia. In: (Proceedings) 64th Annual Meeting of the American-Academy-of-Neurology (AAN). LIPPINCOTT WILLIAMS & WILKINS

Tsoi, LC; Spain, SL; Knight, J; Ellinghaus, E; Stuart, PE; Capon, F; Ding, J; ... Trembath, RC; + view all (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) 1341 - 1348. 10.1038/ng.2467.

V

Vale, TC; Lees, A; Cardoso, F; (2012) Gower's Queen Square case notes on chorea. In: (pp. S88-S88).

W

Winder-Rhodes, SE; Garcia-Reitböck, P; Ban, M; Evans, JR; Jacques, TS; Kemppinen, A; Foltynie, T; ... Spillantini, MG; + view all (2012) Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome. Movement Disorders , 27 (2) pp. 312-315. 10.1002/mds.24029.

X

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; Lees, A; ... Bhatia, K; + view all (2012) THAP1 mutations and dystonia phenotypes: A metanalysis, genotype phenotype correlations and identification of novel mutations. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S370-S370). WILEY-BLACKWELL

Xiromerisiou, G; Kara, E; Houlden, H; Tsironi, E; Dardiotis, E; Dardioti, M; Hadjigeorgiou, G; (2012) Identification of novel THAP1 sequence variants in patients with blepharospam. In: (Proceedings) 16th International Congress of Parkinson's Disease and Movement Disorders. (pp. S473-S473). WILEY-BLACKWELL

Z

Zadeh, G; Salehi, F; An, S; Revesz, T; Holton, J; Thom, M; Brandner, S; ... Kitchen, N; + view all (2012) Diagnostic implications of histological analysis of neurosurgical aspirate in addition to routine resections. Neuropathology , 32 (1) 44 - 50. 10.1111/j.1440-1789.2011.01234.x.

This list was generated on Sun May 20 02:02:14 2018 BST.