Výsledky vyhledávání

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Autor: Shepheard, SR, Parker, MD, Cooper-Knock, J, Verber, NS, Tuddenham, L, Heath, PR, Beauchamp, N, Place, E, Sollars, ESA, Consortium, Project MinE ALS Sequencing, Turner, M, Malaspina, A, Fratta, P, Hewamadduma, C, Jenkins, TM, McDermott, CJ, Wang, D, Kirby, J, Shaw, PJ

Publikováno v: Shepheard, S R, Parker, M D, Cooper-Knock, J, Verber, N S, Tuddenham, L, Heath, P, Beauchamp, N, Place, E, Sollars, E S A, Turner, M R, Malaspina, A, Fratta, P, Hewamadduma, C, Jenkins, T M, McDermott, C J, Wang, D, Kirby, J, Shaw, P J & Morrison, K E 2021, ' Value of systematic genetic screening of patients with amyotrophic lateral sclerosis ', Journal of neurology, neurosurgery, and psychiatry, vol. 92, no. 5, pp. 510-518 . https://doi.org/10.1136/jnnp-2020-325014
Journal of Neurology, Neurosurgery, and Psychiatry

Objective: The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subcla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785ce49bdbeeb3a7466bc3a9e2570a00
https://doi.org/10.1136/jnnp-2020-325014

Zobrazit plný text záznamu

Akademický článek

Label-free fibre optic Raman spectroscopy with bounded simplex-structured matrix factorization for the serial study of serum in amyotrophic lateral sclerosis.

Autor: Alix JJP; Sheffield Institute for Translational Neuroscience, University of Sheffield, UK. j.alix@sheffield.ac.uk.; Neuroscience Institute, University of Sheffield, UK., Verber NS; Sheffield Institute for Translational Neuroscience, University of Sheffield, UK. j.alix@sheffield.ac.uk.; Neuroscience Institute, University of Sheffield, UK., Schooling CN; Sheffield Institute for Translational Neuroscience, University of Sheffield, UK. j.alix@sheffield.ac.uk.; Department of Automatic Control and Systems Engineering, University of Sheffield, UK., Kadirkamanathan V; Department of Automatic Control and Systems Engineering, University of Sheffield, UK., Turner MR; Nuffield Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Malaspina A; Blizard Institute, Queen Mary University of London, London, UK., Day JCC; Interface Analysis Centre, School of Physics, University of Bristol, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, UK. j.alix@sheffield.ac.uk.; Neuroscience Institute, University of Sheffield, UK.

Publikováno v: The Analyst [Analyst] 2022 Nov 07; Vol. 147 (22), pp. 5113-5120. Date of Electronic Publication: 2022 Nov 07.

Zobrazit plný text záznamu

Akademický článek

Combined fused in sarcoma-positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)-plus phenotype.

Autor: Wharton SB; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.; Department of Histopathology, Sheffield Teaching Hospitals, Sheffield, UK., Verber NS; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Wagner BE; Department of Histopathology, Sheffield Teaching Hospitals, Sheffield, UK., Highley JR; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.; Department of Histopathology, Sheffield Teaching Hospitals, Sheffield, UK., Fillingham DJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Waller R; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Strand K; Queen Square Brain Bank for Neurological Disorders, University College London, London, UK., Ince PG; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.; Department of Histopathology, Sheffield Teaching Hospitals, Sheffield, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

Publikováno v: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2019 Oct; Vol. 45 (6), pp. 586-596. Date of Electronic Publication: 2019 Feb 19.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Biomarkers in Motor Neuron Disease: A State of the Art Review.

Autor: Verber NS; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Shepheard SR; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Sassani M; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., McDonough HE; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Moore SA; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Alix JJP; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Wilkinson ID; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Jenkins TM; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom., Shaw PJ; Department of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom.

Publikováno v: Frontiers in neurology [Front Neurol] 2019 Apr 03; Vol. 10, pp. 291. Date of Electronic Publication: 2019 Apr 03 (Print Publication: 2019).

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání