1. C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition. (4th October 2017) Authors: Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A; Stadnik, Paulina; Joseph, Agnel P; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M; Jacques, Thomas; James, Gregory; Kond... Journal: Archives of disease in childhood Issue: Volume 102(2017)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Community‐based genetic study of Parkinson's disease in Estonia. (20th August 2020) Authors: Muldmaa, Mari; Mencacci, Niccolò Emanuele; Pittman, Alan; Kadastik‐Eerme, Liis; Sikk, Katrin; Taba, Pille; Hardy, John; Kõks, Sulev Journal: Acta neurologica Scandinavica Issue: Volume 143:Number 1(2021) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Issue 6 (5th April 2012) Authors: Dunlop, Malcolm G; Tenesa, Albert; Farrington, Susan M; Ballereau, Stephane; Brewster, David H; Koessler, Thibaud; Pharoah, Paul; Schafmayer, Clemens; Hampe, Jochen; Völzke, Henry; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; von Holst, Susanna; Picelli, Simone; Lindblom, Annika; ... Journal: Gut Issue: Volume 62:Issue 6(2013) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (23rd May 2016) Authors: Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A.; Haridy, Nourelhoda A.; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xi... Journal: Brain Issue: Volume 139:Part 7(2016:Jul.) Page Start: 1904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genome-Wide Association Study Identifies Novel Colony Stimulating Factor 1 Locus Conferring Susceptibility to Cryptococcosis in Human Immunodeficiency Virus-Infected South Africans. (16th October 2020) Authors: Kannambath, Shichina; Jarvis, Joseph N; Wake, Rachel M; Longley, Nicky; Loyse, Angela; Matzaraki, Vicky; Aguirre-Gamboa, Raúl; Wijmenga, Cisca; Doyle, Ronan; Paximadis, Maria; Tiemessen, Caroline T; Kumar, Vinod; Pittman, Alan; Meintjes, Graeme; Harrison, Thomas S; Netea, Mihai G; Bicanic, Tihana Journal: Open forum infectious diseases Issue: Volume 7:Number 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. Issue 2 (22nd January 2018) Authors: Lynch, David S.; Chelban, Viorica; Vandrovcova, Jana; Pittman, Alan; Wood, Nicholas W.; Houlden, Henry Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 2(2018) Page Start: 216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Impaired Pre‐Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1‐Linked Dyskinesia. Issue 5 (15th January 2021) Authors: Kratschmer, Patrick; Lowe, Simon A.; Buhl, Edgar; Chen, Ko‐Fan; Kullmann, Dimitri M.; Pittman, Alan; Hodge, James J.L.; Jepson, James E.C. Journal: Movement disorders Issue: Volume 36:Issue 5(2021) Page Start: 1158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LRP10 in α-synucleinopathies. Issue 12 (December 2018) Authors: Pihlstrøm, Lasse; Schottlaender, Lucia; Chelban, Viorica; Houlden, Henry; Al-Sarraj, Safa; Arzberger, Thomas; Bettencourt, Conceicao; Bhatia, Kailash; Dickson, Dennis W; Federoff, Monica; Gelpi, Ellen; Gentleman, Steve; Hardy, John; Holton, Janice; Huitinga, Inge; Levey, Allan; Mann, David; Meiss... Journal: Lancet neurology Issue: Volume 17:Issue 12(2018) Page Start: 1033 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Issue 6 (1st April 2021) Authors: Poole, Olivia V.; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L.; Bugiardini, Enrico; Woodward, Cathy E.; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A.; Gregory, Allison; Hayflick, Susan... Other Names: Alkhawaja Issam investigator.; Banu Selina investigator.; Bonsignore Maria investigator.; Breza Marianthi investigator.; Di Rosa Gabriella investigator.; Heidari Morteza investigator.; Koutsis Georgios investigator.; van den Maagdenberg Arn M.J.M. investigator.; Macaya Alfons investigator.; Münch... Journal: Annals of neurology Issue: Volume 89:Issue 6(2021) Page Start: 1240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia. Issue 4 (19th February 2013) Authors: Hersheson, Joshua; Mencacci, Niccolo E.; Davis, Mary; MacDonald, Nicola; Trabzuni, Daniah; Ryten, Mina; Pittman, Alan; Paudel, Reema; Kara, Eleanna; Fawcett, Katherine; Plagnol, Vincent; Bhatia, Kailash P.; Medlar, Alan J.; Stanescu, Horia C.; Hardy, John; Kleta, Robert; Wood, Nicholas W.; Houlde... Journal: Annals of neurology Issue: Volume 73:Issue 4(2013:Apr.) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗