Janine Kirby
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard S, Parker M, Cooper-Knock J, Verber N, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars E, Turner M, Malaspina A, Fratta P, Hewamadduma C, Jenkins T, McDermott C, Wang D, Kirby J, Openshaw P, Project MINE Consortium, Project MinE. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2021; 92:510-518.
Feb 14, 2021Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Feb 14, 2021J Neurol Neurosurg Psychiatry 2021; 92:510-518
Shepheard Stephanie R, Parker Matthew D, Cooper-Knock Johnathan, Verber Nick S, Tuddenham Lee, Heath Paul R, Beauchamp Nick, Place Elsie, Sollars Elizabeth S A, Turner Martin R, Malaspina Andrea, Fratta Pietro, Hewamadduma Channa, Jenkins Thomas M, McDermott Christopher J, Wang Dennis, Kirby Janine, Openshaw Peter J M, Project MINE Consortium, Project MinE
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
Cooper-Knock J, Kirby J, McDermott C, Hautbergue G, Ince P, PROJECT MINE ALS SEQUENCING CONSORTIUM, Kazoka M, Walsh T, Higginbottom A, Heath P, Wyles M, Niedermoser I, Robins H, Shaw P. Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Front Mol Neurosci 2017; 10:370.
Nov 9, 2017Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
Nov 9, 2017Front Mol Neurosci 2017; 10:370
Cooper-Knock Johnathan, Kirby Janine, McDermott Christopher J, Hautbergue Guillaume M, Ince Paul G, PROJECT MINE ALS SEQUENCING CONSORTIUM, Kazoka Mbombe, Walsh Theresa, Higginbottom Adrian, Heath Paul R, Wyles Matthew, Niedermoser Isabell, Robins Henry, Shaw Pamela J
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Shaw C, Shaw P, Robberecht W, Van Damme P, Veldink J, Van den Berg L, Ticozzi N, Taroni F, Gellera C, Silani V, Kirby J, Pall H, Morrison K, Al-Chalabi A, Weale M, Brown R, Landers J, Andersen P, Baas F, Vianney de Jong J, de Belleroche J, Morris A, Asbroek A, Schelhaas H, Scott K, Troakes C, Lee Y, Miller J, Johnson L, Topp S, Vance C, Shatunov A, Newhouse S, Jones A, Gray I, Wright J, Nestor P, Weber M, Sapp P, Lovestone S, Lupton M, Powell J, Rogelj B, Al-Sarraj S, Hortobágyi T, Smith B. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2012; 21:102-8.
Jun 13, 2012The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Jun 13, 2012Eur J Hum Genet 2012; 21:102-8
Shaw Christopher E, Shaw Pamela J, Robberecht Wim, Van Damme Phillip, Veldink Jan, Van den Berg Leonard, Ticozzi Nicola, Taroni Franco, Gellera Cinzia, Silani Vincenzo, Kirby Janine, Pall Hardev, Morrison Karen E, Al-Chalabi Ammar, Weale Michael E, Brown Robert H, Landers John, Andersen Peter M, Baas Frank, Vianney de Jong J M B, de Belleroche Jacqueline, Morris Alex, Asbroek Anneloor Alm Ten, Schelhaas Helenius J, Scott Kirsten M, Troakes Claire, Lee Younbok, Miller Jack, Johnson Lauren, Topp Simon, Vance Caroline, Shatunov Aleksey, Newhouse Stephen, Jones Ashley, Gray Ian, Wright Jamie, Nestor Peter J, Weber Markus, Sapp Peter C, Lovestone Simon, Lupton Michelle, Powell John, Rogelj Boris, Al-Sarraj Safa, Hortobágyi Tibor, Smith Bradley N