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Number of items: 35.
A
Arthur-Farraj, PJ;
Latouche, M;
Wilton, DK;
Quintes, S;
Chabrol, E;
Banerjee, A;
Woodhoo, A;
... Jessen, KR; + view all
(2012)
c-Jun reprograms Schwann cells of injured nerves to generate a repair cell essential for regeneration.
Neuron
, 75
(4)
633 - 647.
10.1016/j.neuron.2012.06.021.
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Arthur-Farraj, PJ;
Murphy, SM;
Laura, M;
Lunn, MP;
Manji, H;
Blake, J;
Ramdharry, G;
... Reilly, MM; + view all
(2012)
Hand weakness in Charcot-Marie-Tooth disease 1X.
Neuromuscular Disorders
, 22
(7)
622 - 626.
10.1016/j.nmd.2012.02.008.
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B
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Barwick, KES;
Wright, J;
Al-Turki, S;
McEntagart, MM;
Nair, A;
Chioza, B;
Al-Memar, A;
... Crosby, AH; + view all
(2012)
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy.
AMERICAN JOURNAL OF HUMAN GENETICS
, 91
(6)
1103 - 1107.
10.1016/j.ajhg.2012.09.019.
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C
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Charlesworth, G;
Plagnol, V;
Holmström, KM;
Bras, J;
Sheerin, UM;
Preza, E;
Rubio-Agusti, I;
... Wood, NW; + view all
(2012)
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
The American Journal of Human Genetics
, 91
(6)
1041 - 1050.
10.1016/j.ajhg.2012.10.024.
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Cruz, A.V.d.S.;
(2012)
An entropy-based investigation of underpinnings and impact of
oscillations in a model of PD.
Doctoral thesis , UCL (University College London).
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D
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Dastani, Z;
Hivert, MF;
Timpson, N;
Perry, JR;
Yuan, X;
Scott, RA;
Henneman, P;
... Kathiresan, S; + view all
(2012)
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
PLoS Genetics
, 8
(3)
, Article e1002607. 10.1371/journal.pgen.1002607.
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Devine, MJ;
Kaganovich, A;
Ryten, M;
Mamais, A;
Trabzuni, D;
Manzoni, C;
McGoldrick, P;
... Lewis, PA; + view all
(2012)
Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
PLOS ONE
, 7
(1)
, Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.
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F
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Fratta, P;
Mizielinska, S;
Nicoll, AJ;
Zloh, M;
Fisher, EM;
Parkinson, G;
Isaacs, AM;
(2012)
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.
Scientific Reports
, 2
, Article 1016. 10.1038/srep01016.
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Freund, P;
Schneider, T;
Nagy, Z;
Hutton, C;
Weiskopf, N;
Friston, K;
Wheeler-Kingshott, CA;
(2012)
Degeneration of the injured cervical cord is associated with remote changes in corticospinal tract integrity and upper limb impairment.
PLOS One
, 7
(12)
, Article e51729. 10.1371/journal.pone.0051729.
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Freund, P;
Wheeler-Kingshott, CA;
Nagy, Z;
Gorgoraptis, N;
Weiskopf, N;
Friston, K;
Thompson, AJ;
(2012)
Axonal integrity predicts cortical reorganisation following cervical injury.
Journal of Neurology, Neurosurgery & Psychiatry
, 83
(6)
629 -637.
10.1136/jnnp-2011-301875.
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K
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Kahan, J;
Mancini, L;
Urner, M;
Friston, K;
Hariz, M;
Holl, E;
White, M;
... Foltynie, T; + view all
(2012)
Therapeutic subthalamic nucleus deep brain stimulation reverses cortico-thalamic coupling during voluntary movements in Parkinson's disease.
PLoS One
, 7
(12)
, Article e50270. 10.1371/journal.pone.0050270.
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Kara, E;
Ling, H;
Pittman, AM;
Shaw, K;
de Silva, R;
Simone, R;
Holton, JL;
... Revesz, T; + view all
(2012)
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Neurobioly of Aging
, 33
(9)
2231.e7 - 2231.e14.
10.1016/j.neurobiolaging.2012.04.006.
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Kojovic, M;
Sheerin, UM;
Rubio-Agusti, I;
Saha, A;
Bras, J;
Gibbons, V;
Palmer, R;
... Bhatia, KP; + view all
(2012)
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.
Mov Disord
, 27
(14)
pp. 1829-1830.
10.1002/mds.25199.
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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.
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L
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Labbadia, J;
Novoselov, SS;
Bett, JS;
Weiss, A;
Paganetti, P;
Bates, GP;
Cheetham, ME;
(2012)
Suppression of protein aggregation by chaperone modification of high molecular weight complexes.
Brain
, 135
(4)
1180 -1196.
10.1093/brain/aws022.
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Lambert, C;
Zrinzo, L;
Nagy, Z;
Lutti, A;
Hariz, M;
Foltynie, T;
Draganski, B;
... Frackowiak, R; + view all
(2012)
Confirmation of functional zones within the human subthalamic nucleus: Patterns of connectivity and sub-parcellation using diffusion weighted imaging.
NEUROIMAGE
, 60
(1)
pp. 83-94.
10.1016/j.neuroimage.2011.11.082.
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Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
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Lu, CH;
Petzold, A;
Kalmar, B;
Dick, J;
Malaspina, A;
Greensmith, L;
(2012)
Plasma Neurofilament Heavy Chain Levels Correlate to Markers of Late Stage Disease Progression and Treatment Response in SOD1(G93A) Mice that Model ALS.
PLoS One
, 7
(7)
, Article e40998. 10.1371/journal.pone.0040998.
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M
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Majounie, E;
Renton, AE;
Mok, K;
Dopper, EG;
Waite, A;
Rollinson, S;
Chiò, A;
... Traynor, BJ; + view all
(2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Lancet Neurology
, 11
(4)
323 - 330.
10.1016/S1474-4422(12)70043-1.
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Mok, KY;
Koutsis, G;
Schottlaender, LV;
Polke, J;
Panas, M;
Houlden, H;
(2012)
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
Neurobioly of Aging
, 33
(8)
1851.e1 - 1851.e5.
10.1016/j.neurobiolaging.2012.02.021.
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Murphy, SM;
Ovens, R;
Polke, J;
Siskind, CE;
Laurà, M;
Bull, K;
Ramdharry, G;
... Reilly, MM; + view all
(2012)
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Neuromuscular Disorders
, 22
(7)
617 - 621.
10.1016/j.nmd.2012.02.009.
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P
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Payongsri, P;
Steadman, D;
Strafford, J;
MacMurray, A;
Hailes, HC;
Dalby, PA;
(2012)
Rational substrate and enzyme engineering of transketolase for aromatics.
Organic & Biomolecular Chemistry
, 10
(45)
9021 - 9029.
10.1039/c2ob25751c.
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Pitceathly, RD;
Rahman, S;
Hanna, MG;
(2012)
Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice.
Neuromuscular Disorders
, 22
(7)
577 - 586.
10.1016/j.nmd.2012.03.009.
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Pitceathly, RD;
Smith, C;
Fratter, C;
Alston, CL;
He, L;
Craig, K;
Blakely, EL;
... Gorman, GS; + view all
(2012)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Brain
, 135
(11)
3392 -3403.
10.1093/brain/aws231.
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Pradeepa, MM;
Sutherland, HG;
Ule, J;
Grimes, GR;
Bickmore, WA;
(2012)
Psip1/Ledgf p52 binds methylated histone H3K36 and splicing factors and contributes to the regulation of alternative splicing.
PLoS Genetics
, 8
(5)
, Article e1002717. 10.1371/journal.pgen.1002717.
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Pulkes, T;
Dejthevaporn, C;
Apiwattanakul, M;
Papsing, C;
Hanna, MG;
(2012)
Paroxysmal neuromyotonia: A new sporadic channelopathy.
NEUROMUSCULAR DISORDERS
, 22
(6)
479 - 482.
10.1016/j.nmd.2012.01.004.
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S
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Schor, IE;
Lleres, D;
Risso, GJ;
Pawellek, A;
Ule, J;
Lamond, AI;
Kornblihtt, AR;
(2012)
Perturbation of chromatin structure globally affects localization and recruitment of splicing factors.
PLoS One
, 7
(11)
, Article e48084. 10.1371/journal.pone.0048084.
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Shiner, T;
Seymour, B;
Wunderlich, K;
Hill, C;
Bhatia, KP;
Dayan, P;
Dolan, RJ;
(2012)
Dopamine and performance in a reinforcement learning task: evidence from Parkinson's disease.
Brain
, 135
(6)
1871 -1883.
10.1093/brain/aws083.
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Simister, RJ;
(2012)
Magnetic Resonance Spectroscopy as applied to epilepsy.
Doctoral thesis , UCL (University College London).
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Sitarz, KS;
Yu-Wai-Man, P;
Pyle, A;
Stewart, JD;
Rautenstrauss, B;
Seeman, P;
Reilly, MM;
... Chinnery, PF; + view all
(2012)
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Brain
, 135
(8)
, Article e219. 10.1093/brain/aws049.
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Stamelou, M;
Saifee, TA;
Edwards, MJ;
Bhatia, KP;
(2012)
Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases.
Mov Disord
, 27
(9)
1164 - 1168.
10.1002/mds.24948.
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Strafford, J;
Payongsri, P;
Hibbert, EG;
Morris, P;
Batth, SS;
Steadman, D;
Smith, ME;
... Dalby, PA; + view all
(2012)
Directed evolution to re-adapt a co-evolved network within an enzyme.
Journal of Biotechnology
, 157
(1)
237 - 245.
10.1016/j.jbiotec.2011.11.017.
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T
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Trabzuni, D;
Wray, S;
Vandrovcova, J;
Ramasamy, A;
Walker, R;
Smith, C;
Luk, C;
... Ryten, M; + view all
(2012)
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Human Molecular Genetics
, 21
(18)
4094 -4103.
10.1093/hmg/dds238.
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W
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Wagnon, JL;
Briese, M;
Sun, W;
Mahaffey, CL;
Curk, T;
Rot, G;
Ule, J;
(2012)
CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function.
PLoS Genet
, 8
(11)
, Article e1003067. 10.1371/journal.pgen.1003067.
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Wray, S;
Self, M;
NINDS Parkinson's Disease iPSC Consortium;
NINDS Huntington's Disease iPSC Consortium;
NINDS ALS iPSC Consortium;
Lewis, PA;
Taanman, JW;
... Hardy, J; + view all
(2012)
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLOS One
, 7
(8)
, Article e43099. 10.1371/journal.pone.0043099.
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