Kevin Talbot, M.D., D.Phil. - Publications

Physiology, Anatomy and Genetics University of Oxford, Oxford, United Kingdom 
Motor Neuron Degeneration

209 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Vahsen BF, Nalluru S, Morgan GR, Farrimond L, Carroll E, Xu Y, Cramb KML, Amein B, Scaber J, Katsikoudi A, Candalija A, Carcolé M, Dafinca R, Isaacs AM, Wade-Martins R, ... ... Talbot K, et al. C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9. Nature Communications. 14: 5898. PMID 37736756 DOI: 10.1038/s41467-023-41603-0  0.371
2023 Christoforidou E, Simoes FA, Gordon D, Talbot K, Hafezparast M. Aberrant dynein function promotes TDP-43 aggregation and upregulation of p62 in male mice harboring transgenic human TDP-43. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-10. PMID 37498094 DOI: 10.1080/21678421.2023.2239276  0.409
2022 Chaytow H, Carroll E, Gordon D, Huang YT, van der Hoorn D, Smith HL, Becker T, Becker CG, Faller KME, Talbot K, Gillingwater TH. Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis. Ebiomedicine. 104202. PMID 35963713 DOI: 10.1016/j.ebiom.2022.104202  0.363
2022 Cooper-Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T, Shelkovnikova T, Castelli L, Hautbergue GM, Hewitt C, Kirby J, et al. Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology (Zurich, Switzerland). e13104. PMID 35871544 DOI: 10.1111/bpa.13104  0.418
2022 Vahsen BF, Gray E, Candalija A, Cramb KML, Scaber J, Dafinca R, Katsikoudi A, Xu Y, Farrimond L, Wade-Martins R, James WS, Turner MR, Cowley SA, Talbot K. Human iPSC co-culture model to investigate the interaction between microglia and motor neurons. Scientific Reports. 12: 12606. PMID 35871163 DOI: 10.1038/s41598-022-16896-8  0.396
2022 Pandya S, Maia PD, Freeze B, Menke RAL, Talbot K, Turner MR, Raj A. Modeling seeding and neuroanatomic spread of pathology in amyotrophic lateral sclerosis. Neuroimage. 251: 118968. PMID 35143975 DOI: 10.1016/j.neuroimage.2022.118968  0.329
2022 Dharmadasa T, Scaber J, Edmond E, Marsden R, Thompson A, Talbot K, Turner MR. Genetic testing in motor neurone disease. Practical Neurology. PMID 35027459 DOI: 10.1136/practneurol-2021-002989  0.365
2022 Giacomelli E, Vahsen BF, Calder EL, Xu Y, Scaber J, Gray E, Dafinca R, Talbot K, Studer L. Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation. Cell Stem Cell. 29: 11-35. PMID 34995492 DOI: 10.1016/j.stem.2021.12.008  0.315
2021 Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, ... ... Talbot K, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 34459874 DOI: 10.1001/jamaneurol.2021.2598  0.618
2021 Vahsen BF, Gray E, Thompson AG, Ansorge O, Anthony DC, Cowley SA, Talbot K, Turner MR. Non-neuronal cells in amyotrophic lateral sclerosis - from pathogenesis to biomarkers. Nature Reviews. Neurology. PMID 33927394 DOI: 10.1038/s41582-021-00487-8  0.341
2020 Feneberg E, Charles PD, Finelli MJ, Scott C, Kessler BM, Fischer R, Ansorge O, Gray E, Talbot K, Turner MR. Detection and Quantification of Novel C-terminal TDP-43 Fragments in ALS-TDP. Brain Pathology (Zurich, Switzerland). e12923. PMID 33300249 DOI: 10.1111/bpa.12923  0.719
2020 Herrando-Grabulosa M, Casas C, Talbot K, Aguilera J. Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease. Toxins. 12. PMID 33096857 DOI: 10.3390/toxins12100666  0.327
2020 Opie-Martin S, Ossher L, Bredin A, Kulka A, Pearce N, Talbot K, Al-Chalabi A. Motor Neuron Disease Register for England, Wales and Northern Ireland-an analysis of incidence in England. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-8. PMID 32940088 DOI: 10.1080/21678421.2020.1812661  0.3
2020 Sathyaprakash C, Manzano R, Varela MA, Hashimoto Y, Wood MJA, Talbot K, Aoki Y. Development of LNA Gapmer Oligonucleotide-Based Therapy for ALS/FTD Caused by the C9orf72 Repeat Expansion. Methods in Molecular Biology (Clifton, N.J.). 2176: 185-208. PMID 32865792 DOI: 10.1007/978-1-0716-0771-8_14  0.502
2020 Thompson AG, Gray E, Mäger I, Thézénas ML, Charles PD, Talbot K, Fischer R, Kessler BM, Wood M, Turner MR. CSF extracellular vesicle proteomics demonstrates altered protein homeostasis in amyotrophic lateral sclerosis. Clinical Proteomics. 17: 31. PMID 32821252 DOI: 10.1186/S12014-020-09294-7  0.384
2020 Feneberg E, Gordon D, Thompson AG, Finelli MJ, Dafinca R, Candalija A, Charles PD, Mäger I, Wood MJ, Fischer R, Kessler BM, Gray E, Turner MR, Talbot K. An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress. Neurobiology of Disease. 105050. PMID 32800996 DOI: 10.1016/J.Nbd.2020.105050  0.801
2020 Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus J, Shi J, Heckman M, Spiegel M, Cook C, Song Y, Yue M, Daughrity L, Carlomagno Y, Jansen-West K, ... ... Talbot K, et al. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. The Journal of Clinical Investigation. PMID 32790644 DOI: 10.1172/Jci139741  0.383
2020 Feneberg E, Turner MR, Ansorge O, Talbot K. Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology. Neurology. PMID 32769137 DOI: 10.1212/Wnl.0000000000010587  0.377
2020 Gray E, Thompson AG, Wuu J, Pelt J, Talbot K, Benatar M, Turner MR. CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology. PMID 32666680 DOI: 10.1002/Acn3.51114  0.342
2020 Talbot K. Amyotrophic Lateral Sclerosis: network vulnerability and monosynaptic connections. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 32665325 DOI: 10.1136/Jnnp-2020-323729  0.464
2020 Nolan M, Scott C, Gamarallage MP, Lunn D, Carpenter K, McDonough E, Meyer D, Kaanumalle S, Santamaria-Pang A, Turner MR, Talbot K, Ansorge O. Quantitative patterns of motor cortex proteinopathy across ALS genotypes. Acta Neuropathologica Communications. 8: 98. PMID 32616036 DOI: 10.1186/S40478-020-00961-2  0.491
2020 Kelly M, Lavrov A, Garcia-Gancedo L, Parr J, Hart R, Chiwera T, Shaw CE, Al-Chalabi A, Marsden R, Turner MR, Talbot K. The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-11. PMID 32573278 DOI: 10.1080/21678421.2020.1773501  0.338
2020 Ababneh NA, Scaber J, Flynn R, Douglas A, Barbagallo P, Candalija A, Turner MR, Sims D, Dafinca R, Cowley SA, Talbot K. Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair. Human Molecular Genetics. PMID 32504093 DOI: 10.1093/Hmg/Ddaa106  0.473
2020 Dafinca R, Barbagallo P, Farrimond L, Candalija A, Scaber J, Ababneh NA, Sathyaprakash C, Vowles J, Cowley SA, Talbot K. Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD. Stem Cell Reports. PMID 32330447 DOI: 10.1016/J.Stemcr.2020.03.023  0.392
2020 Turner MR, Talbot K. Primary lateral sclerosis: diagnosis and management. Practical Neurology. PMID 32217663 DOI: 10.1136/Practneurol-2019-002300  0.463
2020 Sleigh JN, Tosolini AP, Gordon D, Devoy A, Fratta P, Fisher EMC, Talbot K, Schiavo G. Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes. Cell Reports. 30: 3655-3662.e2. PMID 32187538 DOI: 10.1016/J.Celrep.2020.02.078  0.813
2020 Tu S, Wang C, Menke RAL, Talbot K, Barnett M, Kiernan MC, Turner MR. Regional callosal integrity and bilaterality of limb weakness in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-7. PMID 32106716 DOI: 10.1080/21678421.2020.1733020  0.363
2020 Carling PJ, Mortiboys H, Green C, Mihaylov S, Sandor C, Schwartzentruber A, Taylor R, Wei W, Hastings C, Wong S, Lo C, Evetts S, Clemmens H, Wyles M, Willcox S, ... ... Talbot K, et al. Deep phenotyping of peripheral tissue facilitates mechanistic disease stratification in sporadic Parkinson's disease. Progress in Neurobiology. 101772. PMID 32058042 DOI: 10.1016/J.Pneurobio.2020.101772  0.35
2019 Oprişoreanu AM, Smith HL, Arya S, Webster R, Zhong Z, Wehner D, Cardozo MJ, Becker T, Talbot K, Becker CG. Interaction of Axonal Chondrolectin with Collagen XIXa1 Is Necessary for Precise Neuromuscular Junction Formation. Cell Reports. 29: 1082-1098.e10. PMID 31665626 DOI: 10.1016/J.Celrep.2019.09.033  0.387
2019 Williamson MG, Finelli MJ, Sleigh JN, Reddington A, Gordon D, Talbot K, Davies KE, Oliver PL. Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo. Human Molecular Genetics. PMID 31642482 DOI: 10.1093/Hmg/Ddz190  0.817
2019 Turner MR, Faull C, McDermott CJ, Nickol AH, Palmer J, Talbot K. Tracheostomy in motor neurone disease. Practical Neurology. PMID 31273080 DOI: 10.1136/Practneurol-2018-002109  0.433
2019 Thompson AG, Gray E, Bampton A, Raciborska D, Talbot K, Turner MR. CSF chitinase proteins in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 31123140 DOI: 10.1136/Jnnp-2019-320442  0.32
2019 Young CA, Ealing J, McDermott C, Williams T, Al-Chalabi A, Majeed T, Burke G, Pinto A, Dick D, Talbot K, Harrower T, Walsh J, Chandran S, Hanemann CO, Mills R, et al. The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron disease. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-11. PMID 31116037 DOI: 10.1080/21678421.2019.1615951  0.346
2019 Allen SP, Hall B, Castelli LM, Francis L, Woof R, Siskos AP, Kouloura E, Gray E, Thompson AG, Talbot K, Higginbottom A, Myszczynska M, Allen CF, Stopford MJ, Hemingway J, et al. Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis. Brain : a Journal of Neurology. PMID 30698736 DOI: 10.1093/Brain/Awy353  0.417
2019 Tu S, Menke RAL, Talbot K, Kiernan MC, Turner MR. Cerebellar tract alterations in PLS and ALS. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-4. PMID 30663900 DOI: 10.1080/21678421.2018.1562554  0.448
2019 Robertson J, Gray E, Thompson A, Feneberg E, Talbot K, Turner M. 004 A triaging blood test for neurology? Serum neurofilament levels in a cohort of GP referrals Journal of Neurology, Neurosurgery, and Psychiatry. 90. DOI: 10.1136/Jnnp-2019-Abn-2.38  0.354
2019 Edmond EC, Menke R, Proudfoot M, Talbot K, Stagg CJ, Turner MR. Motor System Biomarkers In Amyotrophic Lateral Sclerosis Journal of Neurology, Neurosurgery, and Psychiatry. 90. DOI: 10.1136/Jnnp-2019-Abn-2.213  0.404
2018 Gordon D, Dafinca R, Scaber J, Alegre-Abarrategui J, Farrimond L, Scott C, Biggs D, Kent L, Oliver PL, Davies B, Ansorge O, Wade-Martins R, Talbot K. Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction. Neurobiology of Disease. PMID 30290270 DOI: 10.1016/J.Nbd.2018.09.024  0.753
2018 Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Németh AH, Cowley SA, Ansorge O, Talbot K, Becker EBE. Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. Acta Neuropathologica Communications. 6: 99. PMID 30249303 DOI: 10.1186/S40478-018-0600-7  0.404
2018 Talbot K, Feneberg E, Scaber J, Thompson AG, Turner MR. Amyotrophic lateral sclerosis: the complex path to precision medicine. Journal of Neurology. PMID 30054789 DOI: 10.1007/S00415-018-8983-8  0.45
2018 Tu S, Menke RAL, Talbot K, Kiernan MC, Turner MR. Regional thalamic MRI as a marker of widespread cortical pathology and progressive frontotemporal involvement in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 30049750 DOI: 10.1136/Jnnp-2018-318625  0.346
2018 de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, ... ... Talbot K, et al. ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging. PMID 30033073 DOI: 10.1016/J.Neurobiolaging.2018.06.015  0.357
2018 Salter M, Corfield E, Ramadass A, Grand F, Green J, Westra J, Lim CR, Farrimond L, Feneberg E, Scaber J, Thompson A, Ossher L, Turner M, Talbot K, Cudkowicz M, et al. Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis. Ebiomedicine. PMID 29941342 DOI: 10.1016/J.Ebiom.2018.06.015  0.368
2018 Proudfoot M, van Ede F, Quinn A, Colclough GL, Wuu J, Talbot K, Benatar M, Woolrich MW, Nobre AC, Turner MR. Impaired corticomuscular and interhemispheric cortical beta oscillation coupling in amyotrophic lateral sclerosis. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. PMID 29678369 DOI: 10.1016/J.Clinph.2018.03.019  0.347
2018 Proudfoot M, Colclough GL, Quinn A, Wuu J, Talbot K, Benatar M, Nobre AC, Woolrich MW, Turner MR. Increased cerebral functional connectivity in ALS: A resting-state magnetoencephalography study. Neurology. 90: e1418-e1424. PMID 29661904 DOI: 10.1212/Wnl.0000000000005333  0.337
2018 Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S, Kobeleva X, Rosenbohm A, Stubendorff B, Sommer H, Middelkoop BM, ... ... Talbot K, et al. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. The Lancet. Neurology. PMID 29598923 DOI: 10.1016/S1474-4422(18)30089-9  0.4
2018 Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Talbot K, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/J.Neuron.2018.02.027  0.696
2018 Milinis K, Tennant A, Mills RJ, Al-Chalabi A, Burke G, Dick DJ, Ealing J, Hanemann CO, Harrower T, McDermott CJ, Majeed T, Pinto A, Talbot K, Williams T, Young CA, et al. Development and validation of Spasticity Index-Amyotrophic Lateral Sclerosis. Acta Neurologica Scandinavica. PMID 29468643 DOI: 10.1111/Ane.12910  0.347
2018 Feneberg E, Gray E, Ansorge O, Talbot K, Turner MR. Towards a TDP-43-Based Biomarker for ALS and FTLD. Molecular Neurobiology. PMID 29460270 DOI: 10.1007/S12035-018-0947-6  0.444
2018 Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nature Reviews. Neurology. PMID 29422644 DOI: 10.1038/Nrneurol.2018.4  0.487
2018 Benoy V, Van Helleputte L, Prior R, d'Ydewalle C, Haeck W, Geens N, Scheveneels W, Schevenels B, Cader MZ, Talbot K, Kozikowski AP, Vanden Berghe P, Van Damme P, Robberecht W, Van Den Bosch L. HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 29415205 DOI: 10.1093/Brain/Awx375  0.387
2018 Keogh MJ, Wei W, Aryaman J, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Jones N, et al. Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29332010 DOI: 10.1136/Jnnp-2017-317234  0.348
2018 Thompson AG, Gray E, Thézénas ML, Charles PD, Evetts S, Hu MT, Talbot K, Fischer R, Kessler BM, Turner MR. Cerebrospinal fluid macrophage biomarkers in amyotrophic lateral sclerosis. Annals of Neurology. PMID 29331073 DOI: 10.1002/Ana.25143  0.381
2018 Menke RAL, Proudfoot M, Talbot K, Turner MR. The two-year progression of structural and functional cerebral MRI in amyotrophic lateral sclerosis. Neuroimage. Clinical. 17: 953-961. PMID 29321969 DOI: 10.1016/J.Nicl.2017.12.025  0.313
2017 Wood MJA, Talbot K, Bowerman M. Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Human Molecular Genetics. 26: R151-R159. PMID 28977438 DOI: 10.1093/Hmg/Ddx215  0.488
2017 Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T, Grosskreutz J, Holmøy T, Ingre C, Karlsborg M, Kleveland G, ... ... Talbot K, et al. July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-4. PMID 28975816 DOI: 10.1080/21678421.2017.1369125  0.401
2017 Bowerman M, Becker CG, Yáñez-Muñoz RJ, Ning K, Wood MJA, Gillingwater TH, Talbot K. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Disease Models & Mechanisms. 10: 943-954. PMID 28768735 DOI: 10.1242/Dmm.030148  0.494
2017 Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Therapy. PMID 28644430 DOI: 10.1038/Gt.2017.52  0.454
2017 Turner MR, Al-Chalabi A, Chio A, Hardiman O, Kiernan MC, Rohrer JD, Rowe J, Seeley W, Talbot K. Genetic screening in sporadic ALS and FTD. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28642287 DOI: 10.1136/Jnnp-2017-315995  0.371
2017 Christie-Brown V, Mitchell J, Talbot K. The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA. Gene Therapy. PMID 28561814 DOI: 10.1038/Gt.2017.47  0.41
2017 Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, ... ... Talbot K, et al. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine. 9. PMID 28469040 DOI: 10.1126/Scitranslmed.Aad9157  0.474
2017 Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, Zhang Q, Burgess RW, Cader MZ, Talbot K, Yang XL, Bennett DL, Schiavo G. Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. Proceedings of the National Academy of Sciences of the United States of America. PMID 28351971 DOI: 10.1073/Pnas.1614557114  0.809
2017 Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AG, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, ... ... Talbot K, et al. C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia. Brain : a Journal of Neurology. PMID 28334866 DOI: 10.1016/S0960-8966(17)30312-7  0.425
2017 Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. Neurogenetics. PMID 28229249 DOI: 10.1007/S10048-017-0510-Z  0.342
2017 Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akinibi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, et al. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains. Acta Neuropathologica Communications. 5: 13. PMID 28153046 DOI: 10.1186/S40478-016-0404-6  0.361
2017 Sandor C, Honti F, Haerty W, Szewczyk-Krolikowski K, Tomlinson P, Evetts S, Millin S, Keane T, McCarthy SA, Durbin R, Talbot K, Hu M, Webber C, Ponting CP, Wade-Martins R. Whole-exome sequencing of 228 patients with sporadic Parkinson's disease. Scientific Reports. 7: 41188. PMID 28117402 DOI: 10.1038/Srep41188  0.339
2017 Thompson AG, Blackwell V, Marsden R, Millard E, Lawson C, Nickol AH, East JE, Talbot K, Allan PJ, Turner MR. A risk stratifying tool to facilitate safe late-stage percutaneous endoscopic gastrostomy in ALS. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-6. PMID 28100064 DOI: 10.1080/21678421.2016.1274330  0.327
2017 Turner MR, Talbot K. Sweet food preference in amyotrophic lateral sclerosis. Practical Neurology. PMID 28073920 DOI: 10.1136/Practneurol-2016-001554  0.329
2017 Talbot K. 1825 Anti-sense treatment in sma: a landmark in the therapy of motor neuron diseases Journal of Neurology, Neurosurgery, and Psychiatry. 88. DOI: 10.1136/Jnnp-2017-Abn.37  0.487
2017 Lim CR, Goh KJ, Phan YX, Patel J, Shahrizaila N, Loh EC, Ng WF, Capelle DP, Hunter E, Salter M, Elvidge W, Ramadass A, Green J, Kent L, Ossher L, ... ... Talbot K, et al. Epigenetic signatures and early detection of neurodegenerative diseases: Development of stratifying biomarkers for amyotrophic lateral sclerosis in Asian cohorts Journal of the Neurological Sciences. 381: 616-616. DOI: 10.1016/J.Jns.2017.08.1736  0.319
2016 Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, et al. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Research. PMID 28003435 DOI: 10.1101/Gr.210609.116  0.3
2016 Scaber J, Talbot K. What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia? Brain : a Journal of Neurology. 139: 3057-3059. PMID 27913405 DOI: 10.1093/Brain/Aww264  0.411
2016 Abdel-Khalik J, Yutuc E, Crick PJ, Gustafsson JÅ, Warner M, Roman G, Talbot K, Gray E, Griffiths WJ, Turner MR, Wang Y. Defective cholesterol metabolism in amyotrophic lateral sclerosis. Journal of Lipid Research. PMID 27811233 DOI: 10.1194/Jlr.P071639  0.315
2016 Turner MR, Goldacre R, Talbot K, Goldacre MJ. Psychiatric disorders prior to amyotrophic lateral sclerosis. Annals of Neurology. PMID 27761925 DOI: 10.1002/Ana.24801  0.33
2016 Proudfoot M, Rohenkohl G, Quinn A, Colclough GL, Wuu J, Talbot K, Woolrich MW, Benatar M, Nobre AC, Turner MR. Altered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis. Human Brain Mapping. PMID 27623516 DOI: 10.1002/Hbm.23357  0.415
2016 Hammond SM, Hazell G, Shabanpoor F, Saleh AF, Bowerman M, Sleigh JN, Meijboom KE, Zhou H, Muntoni F, Talbot K, Gait MJ, Wood MJ. Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America. PMID 27621445 DOI: 10.1073/Pnas.1605731113  0.799
2016 Nolan M, Talbot K, Ansorge O. Pathogenesis of FUS-associated ALS and FTD: insights from rodent models. Acta Neuropathologica Communications. 4: 99. PMID 27600654 DOI: 10.1186/S40478-016-0358-8  0.423
2016 Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, ... ... Talbot K, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. PMID 27455347 DOI: 10.1038/Ng.3626  0.415
2016 Marsden R, Allan P, Blackwell V, East J, Lawson C, Nickol AH, Millard E, Talbot K, Thompson AG, Turner MR. Nutritional pathway for people with motor neurone disease. British Journal of Community Nursing. 21: 360-3. PMID 27401201 DOI: 10.12968/Bjcn.2016.21.7.360  0.391
2016 Talbot K. Clinical tool for predicting survival in ALS: do we need one? Journal of Neurology, Neurosurgery, and Psychiatry. PMID 27378084 DOI: 10.1136/Jnnp-2016-313683  0.346
2016 McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Cohen J, Cantrill H, Dixon S, Ackroyd R, Baudouin S, Bentley A, Berrisford R, Bianchi S, Bourke SC, ... ... Talbot K, et al. DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial. Health Technology Assessment (Winchester, England). 20: 1-186. PMID 27353839 DOI: 10.3310/Hta20450  0.332
2016 Thompson AG, Gray E, Heman-Ackah SM, Mäger I, Talbot K, Andaloussi SE, Wood MJ, Turner MR. Extracellular vesicles in neurodegenerative disease - pathogenesis to biomarkers. Nature Reviews. Neurology. PMID 27174238 DOI: 10.1038/Nrneurol.2016.68  0.328
2016 Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K. C9orf72 Hexanucleotide Expansions are Associated with Altered ER Calcium Homeostasis and Stress Granule Formation in iPSC-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Stem Cells (Dayton, Ohio). PMID 27097283 DOI: 10.1002/Stem.2388  0.516
2016 Fernandes HJ, Hartfield EM, Christian HC, Emmanoulidou E, Zheng Y, Booth H, Bogetofte H, Lang C, Ryan BJ, Sardi SP, Badger J, Vowles J, Evetts S, Tofaris GK, Vekrellis K, ... Talbot K, et al. ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons. Stem Cell Reports. PMID 26905200 DOI: 10.1016/J.Stemcr.2016.01.013  0.385
2016 Menke RA, Proudfoot M, Wuu J, Andersen PM, Talbot K, Benatar M, Turner MR. Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 26733601 DOI: 10.1136/Jnnp-2015-311945  0.372
2016 Aoki Y, Manzano R, Takeda S, Talbot K, Wood M. 741. Development of LNA Gapmer Oligonucleotide Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion Molecular Therapy. 24: S292. DOI: 10.1016/S1525-0016(16)33549-3  0.452
2016 Proudfoot M, Rohenkohl G, Gould I, Wuu J, Andersen PM, Talbot K, Woolrich MW, Benatar M, Nobre AC, Turner MR. Changes in cortical β-oscillation dynamics across the clinical spectrum of motor neuron disease The Lancet. 387: S84. DOI: 10.1016/S0140-6736(16)00471-2  0.463
2015 Somers E, Lees RD, Hoban K, Sleigh JN, Zhou H, Muntoni F, Talbot K, Gillingwater TH, Parson SH. Vascular defects and spinal cord hypoxia in spinal muscular atrophy. Annals of Neurology. PMID 26506088 DOI: 10.1002/Ana.24549  0.818
2015 Simon NG, Huynh W, Vucic S, Talbot K, Kiernan MC. Motor neuron disease: current management and future prospects. Internal Medicine Journal. 45: 1005-13. PMID 26429216 DOI: 10.1111/Imj.12874  0.485
2015 Menke RA, Gray E, Lu CH, Kuhle J, Talbot K, Malaspina A, Turner MR. CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Annals of Clinical and Translational Neurology. 2: 748-55. PMID 26273687 DOI: 10.1002/Acn3.212  0.381
2015 Turner MR, Goldacre R, Talbot K, Goldacre MJ. Cerebrovascular injury as a risk factor for amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 26260352 DOI: 10.1136/Jnnp-2015-311157  0.318
2015 McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Bourke SC, Imam I, Bentley A, Ealing J, Elliott M, Hanemann CO, Hughes P, ... ... Talbot K, et al. Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. The Lancet. Neurology. 14: 883-92. PMID 26234554 DOI: 10.1016/S1474-4422(15)00152-0  0.314
2015 Gray E, Larkin JR, Claridge TD, Talbot K, Sibson NR, Turner MR. The longitudinal cerebrospinal fluid metabolomic profile of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-8. PMID 26121274 DOI: 10.3109/21678421.2015.1053490  0.361
2015 Grice SJ, Sleigh JN, Motley WW, Liu JL, Burgess RW, Talbot K, Cader MZ. Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology. Human Molecular Genetics. 24: 4397-406. PMID 25972375 DOI: 10.1093/Hmg/Ddv176  0.817
2015 Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Talbot K, Greensmith L, Kuhle J, et al. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 84: 2247-57. PMID 25934855 DOI: 10.1212/Wnl.0000000000001642  0.352
2015 Tomlinson PR, Zheng Y, Fischer R, Heidasch R, Gardiner C, Evetts S, Hu M, Wade-Martins R, Turner MR, Morris J, Talbot K, Kessler BM, Tofaris GK. Identification of distinct circulating exosomes in Parkinson's disease. Annals of Clinical and Translational Neurology. 2: 353-61. PMID 25909081 DOI: 10.1002/Acn3.175  0.333
2015 Mutihac R, Alegre-Abarrategui J, Gordon D, Farrimond L, Yamasaki-Mann M, Talbot K, Wade-Martins R. TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons. Neurobiology of Disease. 75: 64-77. PMID 25526708 DOI: 10.1016/J.Nbd.2014.12.010  0.421
2015 Mutihac R, Ababneh N, Scaber J, Wade-Martins R, Cowley S, Talbot K. Modelling amyotrophic lateral sclerosis (ALS) using mutant and CAS9/CRISPR-corrected motor neurons from patients with C9ORF72 mutations reveals disease-specific cellular phenotypes Journal of the Neurological Sciences. 357. DOI: 10.1016/J.Jns.2015.08.198  0.546
2014 Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, ... ... Talbot K, et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron. 84: 324-31. PMID 25374358 DOI: 10.1016/J.Neuron.2014.09.027  0.408
2014 Talbot K, Vincent A. Advances in the clinical science of the motor unit: from motor neuron to neuromuscular junction. Current Opinion in Neurology. 27: 503-5. PMID 25159932 DOI: 10.1097/Wco.0000000000000139  0.428
2014 Menke RA, Körner S, Filippini N, Douaud G, Knight S, Talbot K, Turner MR. Widespread grey matter pathology dominates the longitudinal cerebral MRI and clinical landscape of amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 137: 2546-55. PMID 24951638 DOI: 10.1093/Brain/Awu162  0.404
2014 Kent L, Vizard TN, Smith BN, Topp SD, Vance C, Gkazi A, Miller J, Shaw CE, Talbot K. Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 15: 557-62. PMID 24899262 DOI: 10.3109/21678421.2014.920033  0.45
2014 Bäumer D, East SZ, Tseu B, Zeman A, Hilton D, Talbot K, Ansorge O. FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. Acta Neuropathologica. 128: 597-604. PMID 24718895 DOI: 10.1007/S00401-014-1277-Z  0.436
2014 Bäumer D, Talbot K, Turner MR. Advances in motor neurone disease. Journal of the Royal Society of Medicine. 107: 14-21. PMID 24399773 DOI: 10.1177/0141076813511451  0.538
2014 Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ. Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice. Human Molecular Genetics. 23: 2639-50. PMID 24368416 DOI: 10.1093/Hmg/Ddt659  0.816
2014 Feigin A, Talbot K. Expanding the genetics of huntingtonism. Neurology. 82: 286-7. PMID 24363136 DOI: 10.1212/Wnl.0000000000000067  0.351
2014 Bäumer D, Butterworth R, Menke RA, Talbot K, Hofer M, Turner MR. Progressive hemiparesis (Mills syndrome) with aphasia in amyotrophic lateral sclerosis. Neurology. 82: 457-8. PMID 24363135 DOI: 10.1212/Wnl.0000000000000090  0.483
2014 Turner BJ, Alfazema N, Sheean RK, Sleigh JN, Davies KE, Horne MK, Talbot K. Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiology of Aging. 35: 906-15. PMID 24210254 DOI: 10.1016/J.Neurobiolaging.2013.09.030  0.831
2014 Rolinski M, Szewczyk-Krolikowski K, Tomlinson PR, Nithi K, Talbot K, Ben-Shlomo Y, Hu MT. REM sleep behaviour disorder is associated with worse quality of life and other non-motor features in early Parkinson's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 560-6. PMID 24187013 DOI: 10.1136/Jnnp-2013-306104  0.351
2014 Szewczyk-Krolikowski K, Tomlinson P, Nithi K, Wade-Martins R, Talbot K, Ben-Shlomo Y, Hu MT. The influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort. Parkinsonism & Related Disorders. 20: 99-105. PMID 24183678 DOI: 10.1016/J.Parkreldis.2013.09.025  0.368
2014 Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, Becker CG, Talbot K. Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Human Molecular Genetics. 23: 855-69. PMID 24067532 DOI: 10.1093/Hmg/Ddt477  0.823
2014 Talbot K. Amyotrophic lateral sclerosis: cell vulnerability or system vulnerability? Journal of Anatomy. 224: 45-51. PMID 24010870 DOI: 10.1111/Joa.12107  0.442
2014 Talbot K. Should all patients with ALS have genetic testing? Journal of Neurology, Neurosurgery, and Psychiatry. 85: 475. PMID 23868948 DOI: 10.1136/Jnnp-2013-305727  0.376
2013 Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain : a Journal of Neurology. 136: 3106-18. PMID 24030952 DOI: 10.1093/Brain/Awt236  0.661
2013 Turner MR, Goldacre R, Ramagopalan S, Talbot K, Goldacre MJ. Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study. Neurology. 81: 1222-5. PMID 23946298 DOI: 10.1212/Wnl.0B013E3182A6Cc13  0.371
2013 Halpin L, Savulescu J, Talbot K, Turner M, Talman P. Improving access to medicines: empowering patients in the quest to improve treatment for rare lethal diseases. Journal of Medical Ethics. PMID 23839261 DOI: 10.1136/Medethics-2013-101427  0.345
2013 Kolind S, Sharma R, Knight S, Johansen-Berg H, Talbot K, Turner MR. Myelin imaging in amyotrophic and primary lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 562-73. PMID 23678852 DOI: 10.3109/21678421.2013.794843  0.397
2013 Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J, Ellis CM, Gorrie G, Hanemann CO, Harrower T, Jung A, Majeed T, Malaspina A, ... ... Talbot K, et al. Management of sialorrhoea in motor neuron disease: a survey of current UK practice. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 521-7. PMID 23647474 DOI: 10.3109/21678421.2013.790452  0.394
2013 Turner MR, Talbot K. Mimics and chameleons in motor neurone disease. Practical Neurology. 13: 153-64. PMID 23616620 DOI: 10.1136/Practneurol-2013-000557  0.419
2013 Kayadjanian N, Burghes A, Finkel RS, Mercuri E, Rouault F, Schwersenz I, Talbot K. SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. Orphanet Journal of Rare Diseases. 8: 44. PMID 23514578 DOI: 10.1186/1750-1172-8-44  0.329
2013 Morrison KE, Dhariwal S, Hornabrook R, Savage L, Burn DJ, Khoo TK, Kelly J, Murphy CL, Al-Chalabi A, Dougherty A, Leigh PN, Wijesekera L, Thornhill M, Ellis CM, ... ... Talbot K, et al. Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial. The Lancet. Neurology. 12: 339-45. PMID 23453347 DOI: 10.1016/S1474-4422(13)70037-1  0.351
2013 Stamelou M, Adams M, Davagnanam I, Batla A, Sheerin U, Talbot K, Bhatia KP. Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1155-7. PMID 23436739 DOI: 10.1002/Mds.25310  0.363
2013 Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, et al. Controversies and priorities in amyotrophic lateral sclerosis. The Lancet. Neurology. 12: 310-22. PMID 23415570 DOI: 10.1016/S1474-4422(13)70036-X  0.633
2013 Kent L, Davies P, Kennett R, Wimalaratna S, Kerr R, Turner MR, Talbot K. Unmasking of incipient amyotrophic lateral sclerosis by botulinum toxin therapy. Journal of Neurology. 260: 1166-7. PMID 23400499 DOI: 10.1007/S00415-013-6854-X  0.408
2013 Sleigh JN, Grice SJ, Davies KE, Talbot K. Spinal muscular atrophy at the crossroads of basic science and therapy. Neuromuscular Disorders : Nmd. 23: 96. PMID 22981697 DOI: 10.1016/J.Nmd.2012.08.008  0.811
2013 Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/Humu.22210  0.415
2012 Turner MR, Talbot K. Motor neurone disease is a clinical diagnosis. Practical Neurology. 12: 396-7. PMID 23144309 DOI: 10.1136/Practneurol-2012-000374  0.444
2012 McDermott CJ, Maguire C, Cooper CL, Ackroyd R, Baird WO, Baudouin S, Bentley A, Bianchi S, Bourke S, Bradburn MJ, Dixon S, Ealing J, Galloway S, Karat D, Maynard N, ... ... Talbot K, et al. Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial. Bmc Neurology. 12: 74. PMID 22897892 DOI: 10.1186/1471-2377-12-74  0.396
2012 Hoffman EP, Talbot K. A calm before the exome storm: coming together of dSMA and CMT2. Neurology. 78: 1706-7. PMID 22459684 DOI: 10.1212/Wnl.0B013E3182556C1F  0.426
2012 Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, ... ... Talbot K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology. 11: 323-30. PMID 22406228 DOI: 10.1016/S1474-4422(12)70043-1  0.59
2012 Evans MC, Modo M, Talbot K, Sibson N, Turner MR. Magnetic resonance imaging of pathological processes in rodent models of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 13: 288-301. PMID 22117132 DOI: 10.3109/17482968.2011.623300  0.394
2012 Turner MR, Wotton C, Talbot K, Goldacre MJ. Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: indirect evidence from record linkage study. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 395-8. PMID 22072701 DOI: 10.1136/Jnnp-2011-301161  0.329
2012 McLaughlin HM, Sakaguchi R, Giblin W, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Human Mutation. 33: 244-53. PMID 22009580 DOI: 10.1002/Humu.21635  0.401
2012 Turner M, Wotton C, Talbot K, Goldacre MJ. 1118 Are MND patients pre-morbidly fitter? Indirect evidence from hospital record-linkage Journal of Neurology, Neurosurgery & Psychiatry. 83: e1.90-e1. DOI: 10.1136/Jnnp-2011-301993.18  0.302
2011 Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. Plos Genetics. 7: e1002399. PMID 22144914 DOI: 10.1371/Journal.Pgen.1002399  0.705
2011 Gibbons CJ, Mills RJ, Thornton EW, Ealing J, Mitchell JD, Shaw PJ, Talbot K, Tennant A, Young CA. Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND). Health and Quality of Life Outcomes. 9: 101. PMID 22107756 DOI: 10.1186/1477-7525-9-101  0.324
2011 Douaud G, Filippini N, Knight S, Talbot K, Turner MR. Integration of structural and functional magnetic resonance imaging in amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 134: 3470-9. PMID 22075069 DOI: 10.1093/Brain/Awr279  0.334
2011 Talbot K. Familial versus sporadic amyotrophic lateral sclerosis--a false dichotomy? Brain : a Journal of Neurology. 134: 3429-31. PMID 22051609 DOI: 10.1093/Brain/Awr296  0.396
2011 Kwok AS, Phadwal K, Turner BJ, Oliver PL, Raw A, Simon AK, Talbot K, Agashe VR. HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. Journal of Neurochemistry. 119: 1155-61. PMID 21985219 DOI: 10.1111/J.1471-4159.2011.07521.X  0.716
2011 Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Human Molecular Genetics. 20: 4334-44. PMID 21840928 DOI: 10.1093/Hmg/Ddr360  0.405
2011 Sharma R, Hicks S, Berna CM, Kennard C, Talbot K, Turner MR. Oculomotor dysfunction in amyotrophic lateral sclerosis: a comprehensive review. Archives of Neurology. 68: 857-61. PMID 21747027 DOI: 10.1001/Archneurol.2011.130  0.422
2011 Sleigh JN, Gillingwater TH, Talbot K. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Disease Models & Mechanisms. 4: 457-67. PMID 21708901 DOI: 10.1242/Dmm.007245  0.834
2011 Turner MR, Wicks P, Brownstein CA, Massagli MP, Toronjo M, Talbot K, Al-Chalabi A. Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. 82: 853-4. PMID 20562391 DOI: 10.1136/Jnnp.2010.208413  0.407
2011 Talbot K. S.I.2 Motor neuron disorders and vulnerability to RNA processing Neuromuscular Disorders. 21: 680. DOI: 10.1016/J.Nmd.2011.06.888  0.383
2010 Talbot K. Do twin studies still have anything to teach us about the genetics of amyotrophic lateral sclerosis? Journal of Neurology, Neurosurgery, and Psychiatry. 81: 1299-300. PMID 21087924 DOI: 10.1136/Jnnp.2010.224816  0.411
2010 Filippini N, Douaud G, Mackay CE, Knight S, Talbot K, Turner MR. Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis. Neurology. 75: 1645-52. PMID 21041787 DOI: 10.1212/Wnl.0B013E3181Fb84D1  0.469
2010 McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC, Biesecker LG, Wilson TE, Ionasescu V, ... ... Talbot K, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. American Journal of Human Genetics. 87: 560-6. PMID 20920668 DOI: 10.1016/J.Ajhg.2010.09.008  0.426
2010 Wishart TM, Huang JP, Murray LM, Lamont DJ, Mutsaers CA, Ross J, Geldsetzer P, Ansorge O, Talbot K, Parson SH, Gillingwater TH. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Human Molecular Genetics. 19: 4216-28. PMID 20705736 DOI: 10.1093/Hmg/Ddq340  0.457
2010 Bäumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K, Ansorge O. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology. 75: 611-8. PMID 20668261 DOI: 10.1212/Wnl.0B013E3181Ed9Cde  0.481
2010 Bäumer D, Ansorge O, Almeida M, Talbot K. The role of RNA processing in the pathogenesis of motor neuron degeneration. Expert Reviews in Molecular Medicine. 12: e21. PMID 20642879 DOI: 10.1017/S1462399410001523  0.528
2010 Turner MR, Scaber J, Goodfellow JA, Lord ME, Marsden R, Talbot K. The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis. Journal of the Neurological Sciences. 294: 81-5. PMID 20452624 DOI: 10.1016/J.Jns.2010.03.028  0.363
2010 Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, Taly AB, Raghavendra S, Müller F, Maher ER, Trembath RC. Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics. 11: 379-89. PMID 20390432 DOI: 10.1007/S10048-010-0243-8  0.389
2010 Murray LM, Talbot K, Gillingwater TH. Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy. Neuropathology and Applied Neurobiology. 36: 133-56. PMID 20202121 DOI: 10.1111/J.1365-2990.2010.01061.X  0.47
2010 Motley WW, Talbot K, Fischbeck KH. GARS axonopathy: not every neuron's cup of tRNA. Trends in Neurosciences. 33: 59-66. PMID 20152552 DOI: 10.1016/J.Tins.2009.11.001  0.7
2010 Turner BJ, Ackerley S, Davies KE, Talbot K. Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice. Human Molecular Genetics. 19: 815-24. PMID 20008901 DOI: 10.1093/Hmg/Ddp550  0.725
2010 Turner MR, Brockington A, Scaber J, Hollinger H, Marsden R, Shaw PJ, Talbot K. Pattern of spread and prognosis in lower limb-onset ALS. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 11: 369-73. PMID 20001488 DOI: 10.3109/17482960903420140  0.349
2010 Murray LM, Lee S, Bäumer D, Parson SH, Talbot K, Gillingwater TH. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Human Molecular Genetics. 19: 420-33. PMID 19884170 DOI: 10.1093/Hmg/Ddp506  0.526
2010 Turner MR, Abisgold J, Yeates DG, Talbot K, Goldacre MJ. Head and other physical trauma requiring hospitalisation is not a significant risk factor in the development of ALS. Journal of the Neurological Sciences. 288: 45-8. PMID 19878957 DOI: 10.1016/J.Jns.2009.10.010  0.316
2010 Pereira EA, Turner MR, Wass JA, Talbot K. Reduction of elevated IGF-1 levels in coincident amyotrophic lateral sclerosis and acromegaly. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 11: 255-7. PMID 19634028 DOI: 10.3109/17482960902870985  0.405
2010 Talbot K, Lowe J, Ansorge O, Hilton D, Baumer D, Paine S, Turner M. PATU5 Characterisation of fused in sarcoma pathology and FUS mutations in juvenile amyotrophic lateral sclerosis with basophilic inclusions Journal of Neurology, Neurosurgery & Psychiatry. 81: e25-e25. DOI: 10.1136/Jnnp.2010.226340.34  0.474
2010 Talbot K, Turner MR. PORT02 Oxford motor neurone disorders research Journal of Neurology, Neurosurgery, and Psychiatry. 81. DOI: 10.1136/Jnnp.2010.226340.197  0.458
2010 Hu M, Ponting C, Mackay C, Talbot K, Wade-Martins R, Wood M, Bolam JP, Ben-Shlomo Y, Ansorge O, James W. POMD09 Understanding the early pathological pathways in Parkinson's disease. The Oxford Parkinson's Disease Centre Journal of Neurology, Neurosurgery & Psychiatry. 81: e59-e59. DOI: 10.1136/Jnnp.2010.226340.169  0.317
2010 Filippini N, Douaud G, Mackay CE, Knight S, Talbot K, Turner MR. PATH44 Corpus callosum diffusion tensor imaging as a biomarker for motor neurone disease Journal of Neurology, Neurosurgery & Psychiatry. 81: e19-e20. DOI: 10.1136/Jnnp.2010.226340.12  0.413
2010 Filippini N, Mackay C, Douaud G, Knight S, Talbot K, Turner M. P89 An MRI biomarker for motor neuron disease? Neuromuscular Disorders. 20: S29. DOI: 10.1016/S0960-8966(10)70104-8  0.437
2009 Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. Plos Genetics. 5: e1000773. PMID 20019802 DOI: 10.1371/Journal.Pgen.1000773  0.753
2009 Bäumer D, Parkinson N, Talbot K. TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation. Journal of Neurology, Neurosurgery, and Psychiatry. 80: 1283-5. PMID 19864663 DOI: 10.1136/Jnnp.2008.166512  0.494
2009 Talbot K. Motor neuron disease: the bare essentials. Practical Neurology. 9: 303-9. PMID 19762894 DOI: 10.1136/Jnnp.2009.188151  0.516
2009 Talbot K. Another gene for ALS: mutations in sporadic cases and the rare variant hypothesis. Neurology. 73: 1172-3. PMID 19741213 DOI: 10.1212/Wnl.0B013E3181Bd1161  0.48
2009 Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, et al. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Disease Models & Mechanisms. 2: 359-73. PMID 19470612 DOI: 10.1242/Dmm.002527  0.462
2009 Turner BJ, Parkinson NJ, Davies KE, Talbot K. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiology of Disease. 34: 511-7. PMID 19332122 DOI: 10.1016/J.Nbd.2009.03.005  0.772
2009 Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, ... ... Talbot K, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 18: 1524-32. PMID 19193627 DOI: 10.1093/Hmg/Ddp059  0.792
2009 Turner MR, Kiernan MC, Leigh PN, Talbot K. Biomarkers in amyotrophic lateral sclerosis. The Lancet. Neurology. 8: 94-109. PMID 19081518 DOI: 10.1016/S1474-4422(08)70293-X  0.425
2009 Ciccarelli O, Behrens TE, Johansen-Berg H, Talbot K, Orrell RW, Howard RS, Nunes RG, Miller DH, Matthews PM, Thompson AJ, Smith SM. Investigation of white matter pathology in ALS and PLS using tract-based spatial statistics. Human Brain Mapping. 30: 615-24. PMID 18172851 DOI: 10.1002/Hbm.20527  0.411
2008 Baumer D, Flossmann E, Cudlip S, Quaghebeur G, Jeans A, Talbot K. Primary angiitis of the CNS mimicking a spinal cord tumour. Journal of Neurology. 255: 1970-2. PMID 19165530 DOI: 10.1007/S00415-009-0853-Y  0.302
2008 Turner BJ, Bäumer D, Parkinson NJ, Scaber J, Ansorge O, Talbot K. TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy. Bmc Neuroscience. 9: 104. PMID 18957104 DOI: 10.1186/1471-2202-9-104  0.538
2008 Doran G, Davies KE, Talbot K. Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. Biochemical and Biophysical Research Communications. 372: 447-53. PMID 18503760 DOI: 10.1016/J.Bbrc.2008.05.072  0.668
2008 Talbot K, Davies KE. Is good housekeeping the key to motor neuron survival? Cell. 133: 572-4. PMID 18485864 DOI: 10.1016/J.Cell.2008.05.002  0.75
2008 Parkinson NJ, Baumer D, Rose-Morris A, Talbot K. Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. Neuromuscular Disorders : Nmd. 18: 394-7. PMID 18395445 DOI: 10.1016/J.Nmd.2008.03.003  0.535
2008 James PA, Rankin J, Talbot K. Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27). Journal of Neurology, Neurosurgery, and Psychiatry. 79: 461-3. PMID 18344398 DOI: 10.1136/Jnnp.2007.125179  0.465
2008 Turner BJ, Talbot K. Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. Progress in Neurobiology. 85: 94-134. PMID 18282652 DOI: 10.1016/J.Pneurobio.2008.01.001  0.508
2008 Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Human Molecular Genetics. 17: 949-62. PMID 18065780 DOI: 10.1093/Hmg/Ddm367  0.428
2007 Talbot K, Davies KE. Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies. Handbook of Clinical Neurology. 82: 141-53. PMID 18808892 DOI: 10.1016/S0072-9752(07)80010-8  0.746
2007 Turner MR, Chohan G, Quaghebeur G, Greenhall RC, Hadjivassiliou M, Talbot K. A case of celiac disease mimicking amyotrophic lateral sclerosis. Nature Clinical Practice. Neurology. 3: 581-4. PMID 17914346 DOI: 10.1038/Ncpneuro0631  0.315
2007 Schymick JC, Talbot K, Traynor BJ. Genetics of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 16: R233-42. PMID 17911166 DOI: 10.1093/Hmg/Ddm215  0.814
2007 Talbot K. The study of rare diseases: butterfly collecting or an entrée to understanding common conditions? Practical Neurology. 7: 210-1. PMID 17636135 DOI: 10.1136/Jnnp.2007.124396  0.305
2007 Cader MZ, Ren J, James PA, Bird LE, Talbot K, Stammers DK. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. Febs Letters. 581: 2959-64. PMID 17544401 DOI: 10.1016/J.Febslet.2007.05.046  0.365
2006 James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology. 67: 1710-2. PMID 17101916 DOI: 10.1212/01.Wnl.0000242619.52335.Bc  0.429
2006 Talbot K, Ansorge O. Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease. Human Molecular Genetics. 15: R182-7. PMID 16987882 DOI: 10.1093/Hmg/Ddl202  0.441
2006 James PA, Talbot K. The molecular genetics of non-ALS motor neuron diseases. Biochimica Et Biophysica Acta. 1762: 986-1000. PMID 16765570 DOI: 10.1016/J.Bbadis.2006.04.003  0.534
2006 Ackerley S, James PA, Kalli A, French S, Davies KE, Talbot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Human Molecular Genetics. 15: 347-54. PMID 16368711 DOI: 10.1093/Hmg/Ddi452  0.733
2004 Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, ... ... Talbot K, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genetics. 36: 602-6. PMID 15122254 DOI: 10.1038/Ng1354  0.434
2004 Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics. 36: 597-601. PMID 15122253 DOI: 10.1038/Ng1328  0.402
2004 Talbot K. Motor neuron disease Medicine. 32: 105-107. DOI: 10.1383/Medc.  0.484
2004 Talbot K. Monomelic amyotrophy or Hirayama's disease Practical Neurology. 4: 362-365. DOI: 10.1111/J.1474-7766.2004.00265.X  0.418
2003 Anderson K, Talbot K. Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling. Current Opinion in Neurology. 16: 595-9. PMID 14501843 DOI: 10.1097/01.Wco.0000093102.34793.13  0.511
2003 Talbot K, Davies K. Musculoskeletal diseases: from complex genetics to therapy. Current Opinion in Pharmacology. 3: 277-9. PMID 12810192 DOI: 10.1016/S1471-4892(03)00044-4  0.63
2002 Talbot K. Motor neurone disease. Postgraduate Medical Journal. 78: 513-9. PMID 12357010 DOI: 10.1136/Pmj.78.923.513  0.492
2001 Talbot K, Davies KE. Spinal muscular atrophy. Seminars in Neurology. 21: 189-97. PMID 11442327 DOI: 10.1055/S-2001-15264  0.752
2001 Skordis LA, Dunckley MG, Burglen L, Campbell L, Talbot K, Patel S, Melki J, Davies KE, Dubowitz V, Muntoni F. Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. Human Genetics. 108: 356-7. PMID 11379882 DOI: 10.1007/S004390100497  0.723
1999 Talbot K. Spinal muscular atrophy. Journal of Inherited Metabolic Disease. 22: 545-54. PMID 10407786 DOI: 10.1023/A:1005516625866  0.42
1998 Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE. Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Human Molecular Genetics. 7: 2149-56. PMID 9817934 DOI: 10.1093/Hmg/7.13.2149  0.709
1997 Talbot K. What's new in the molecular genetics of spinal muscular atrophy? European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 1: 149-55. PMID 10728211 DOI: 10.1016/S1090-3798(97)80051-7  0.311
1997 Nesbit MA, Hodges MD, Campbell L, de Meulemeester TM, Alders M, Rodrigues NR, Talbot K, Theodosiou AM, Mannens MA, Nakamura Y, Little PF, Davies KE. Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2. Genomics. 42: 284-94. PMID 9192849 DOI: 10.1006/Geno.1997.4737  0.627
1997 Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE. Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscular Disorders : Nmd. 7: 198-201. PMID 9185185 DOI: 10.1016/S0960-8966(97)00450-1  0.739
1997 Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE. Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Human Molecular Genetics. 6: 497-500. PMID 9147655 DOI: 10.1093/Hmg/6.3.497  0.737
1996 Talbot K, Rodrigues N, Bernert G, Bittner R, Davies K. Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. Journal of Medical Genetics. 33: 1019-21. PMID 9004135 DOI: 10.1136/Jmg.33.12.1019  0.737
1996 Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE. Gene deletions in spinal muscular atrophy. Journal of Medical Genetics. 33: 93-6. PMID 8929942 DOI: 10.1136/Jmg.33.2.93  0.684
1996 Rodrigues NR, Talbot K, Davies KE. Molecular genetics of autosomal recessive spinal muscular atrophy. Molecular Medicine (Cambridge, Mass.). 2: 400-4. PMID 8827710 DOI: 10.1007/Bf03401899  0.662
1995 Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Human Molecular Genetics. 4: 631-4. PMID 7633412 DOI: 10.1093/Hmg/4.4.631  0.75
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