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Number of items: 12.
A
Akhtar, S;
Grizenkova, J;
Wenborn, A;
Hummerich, H;
Fernandez de Marco, M;
Brandner, S;
Collinge, J;
(2013)
Sod1 deficiency reduces incubation time in mouse models of prion disease.
PLoS One
, 8
(1)
, Article e54454. 10.1371/journal.pone.0054454.
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Asante, EA;
Linehan, JM;
Smidak, M;
Tomlinson, A;
Grimshaw, A;
Jeelani, A;
Jakubcova, T;
... Collinge, J; + view all
(2013)
Inherited Prion Disease A117V Is Not Simply a Proteinopathy but Produces Prions Transmissible to Transgenic Mice Expressing Homologous Prion Protein.
PLoS Pathog
, 9
(9)
, Article e1003643. 10.1371/journal.ppat.1003643.
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B
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Begum, R;
(2013)
Functional analysis of Hectd2: a prion disease modifier associated with incubation time.
Doctoral thesis , UCL (University College London).
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F
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Fratta, P;
Poulter, M;
Lashley, T;
Rohrer, JD;
Polke, JM;
Beck, J;
Ryan, N;
... Mead, S; + view all
(2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Acta Neuropathologica
, 126
(3)
pp. 401-409.
10.1007/s00401-013-1147-0.
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G
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Gill, ON;
Spencer, Y;
Richard-Loendt, A;
Kelly, C;
Dabaghian, R;
Boyes, L;
Linehan, J;
... Brandner, S; + view all
(2013)
Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey.
BMJ
, 347
, Article f5675. 10.1136/bmj.f5675.
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L
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Lashley, T;
Rohrer, JD;
Mahoney, C;
Gordon, E;
Beck, J;
Mead, S;
Warren, J;
... Revesz, T; + view all
(2013)
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Neuropathology and Applied Neurobiology
, 40
(4)
pp. 502-513.
10.1111/nan.12100.
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M
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Mahoney, CJ;
Downey, LE;
Beck, J;
Liang, Y;
Mead, S;
Perry, RJ;
Warren, JD;
(2013)
The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia.
Journal of Alzheimer’s Disease
, 36
pp. 239-243.
10.3233/JAD-122092.
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Mead, S;
Gandhi, S;
Beck, J;
Caine, D;
Gallujipali, D;
Carswell, C;
Hyare, H;
... Collinge, J; + view all
(2013)
A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy.
New England Journal of Medicine
, 369
(20)
1904- 1914.
10.1056/NEJMoa1214747.
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N
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Nicoll, AJ;
Panico, S;
Freir, DB;
Wright, D;
Terry, C;
Risse, E;
Herron, CE;
... Collinge, J; + view all
(2013)
Amyloid-β nanotubes are associated with prion protein-dependent synaptotoxicity.
Nature Communications
, 4
, Article 2416 . 10.1038/ncomms3416.
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O
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Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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R
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Rohrer, JD;
Beck, J;
Plagnol, V;
Gordon, E;
Lashley, T;
Revesz, T;
Janssen, JC;
... Schott, JM; + view all
(2013)
Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia.
J Neurol Neurosurg Psychiatry
, 84
(12)
pp. 1411-1412.
10.1136/jnnp-2013-306116.
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S
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Shiltagh, N;
(2013)
Solution structure of the factor VIII binding region on von Willebrand factor.
Doctoral thesis , UCL (University College London).
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