1. 022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias. Issue 6 (27th May 2022) Authors: Chen, Zhongbo; Cipriani, Valentina; Zhang, David; Tucci, Arianna; Vestito, Letizia; Smedley, Damian; Houlden, Henry; Botia, Juan; Ryten, Mina Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 129 Network controllability and regional gene expression explain visual hallucinations in Parkinson's. Issue 6 (27th May 2022) Authors: Zarkali, Angeliki; McColgan, Peter; Ryten, Mina; Reynolds, Regina; Leyland, Louise-Ann; Lees, Andrew J; Rees, Geraint; Weil, Rimona S Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019) Authors: Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Issue 2 (27th November 2017) Authors: Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D.; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies. (5th September 2021) Authors: Altmann, Andre; Ryten, Mina; Di Nunzio, Martina; Ravizza, Teresa; Tolomeo, Daniele; Reynolds, Regina H.; Somani, Alyma; Bacigaluppi, Marco; Iori, Valentina; Micotti, Edoardo; Di Sapia, Rossella; Cerovic, Milica; Palma, Eleonora; Ruffolo, Gabriele; Botía, Juan A.; Absil, Julie; Alhusaini, Saud; Al... Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ADCY5 mutations are another cause of benign hereditary chorea. (7th July 2015) Authors: Mencacci, Niccolo E.; Erro, Roberto; Wiethoff, Sarah; Hersheson, Joshua; Ryten, Mina; Balint, Bettina; Ganos, Christos; Stamelou, Maria; Quinn, Niall; Houlden, Henry; Wood, Nicholas W.; Bhatia, Kailash P. Journal: Neurology Issue: Volume 85:Number 1(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Issue 1 (19th August 2020) Authors: Altmann, Andre; Cash, David M; Bocchetta, Martina; Heller, Carolin; Reynolds, Regina; Moore, Katrina; Convery, Rhian S; Thomas, David L; van Swieten, John C; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galim... Journal: Brain communications Issue: Volume 2:Issue 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Issue 2 (19th August 2020) Authors: Altmann, Andre; Cash, David M; Bocchetta, Martina; Heller, Carolin; Reynolds, Regina; Moore, Katrina; Convery, Rhian S; Thomas, David L; van Swieten, John C; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galim... Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Issue 2 (19th August 2020) Authors: Altmann, Andre; Cash, David M; Bocchetta, Martina; Heller, Carolin; Reynolds, Regina; Moore, Katrina; Convery, Rhian S; Thomas, David L; van Swieten, John C; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galim... Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Issue 1 (December 2017) Authors: Jansen, Iris; Ye, Hui; Heetveld, Sasja; Lechler, Marie; Michels, Helen; Seinstra, Renée; Lubbe, Steven; Drouet, Valérie; Lesage, Suzanne; Majounie, Elisa; Gibbs, J.; Nalls, Mike; Ryten, Mina; Botia, Juan; Vandrovcova, Jana; Simon-Sanchez, Javier; Castillo-Lizardo, Melissa; Rizzu, Patrizia; Blauwe... Journal: Genome biology Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗