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Items: 1 to 50 of 136

1.

Plasma pNfH levels differentiate SBMA from ALS.

Lombardi V, Bombaci A, Zampedri L, Lu CH, Malik B, Zetterberg H, Heslegrave AJ, Rinaldi C, Greensmith L, Hanna MG, Malaspina A, Fratta P.

J Neurol Neurosurg Psychiatry. 2019 Oct 1. pii: jnnp-2019-320624. doi: 10.1136/jnnp-2019-320624. [Epub ahead of print] No abstract available.

PMID:
31575607
2.

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands.

Greensmith L, Pradat PF, Sorarù G, Pennuto M; European SBMA Consortium.

Neuromuscul Disord. 2019 Sep;29(9):716-724. doi: 10.1016/j.nmd.2019.07.008. Epub 2019 Aug 9. No abstract available.

PMID:
31488386
3.

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity.

Klickovic U, Zampedri L, Sinclair CDJ, Wastling SJ, Trimmel K, Howard RS, Malaspina A, Sharma N, Sidle K, Emira A, Shah S, Yousry TA, Hanna MG, Greensmith L, Morrow JM, Thornton JS, Fratta P.

Neurology. 2019 Aug 27;93(9):e895-e907. doi: 10.1212/WNL.0000000000008009. Epub 2019 Aug 7.

4.

Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis.

Tyzack GE, Luisier R, Taha DM, Neeves J, Modic M, Mitchell JS, Meyer I, Greensmith L, Newcombe J, Ule J, Luscombe NM, Patani R.

Brain. 2019 Sep 1;142(9):2572-2580. doi: 10.1093/brain/awz217.

5.

Regional differences in the inflammatory and heat shock response in glia: implications for ALS.

Clarke BE, Gil RS, Yip J, Kalmar B, Greensmith L.

Cell Stress Chaperones. 2019 Sep;24(5):857-870. doi: 10.1007/s12192-019-01005-y. Epub 2019 Jun 5.

6.

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.

Malik B, Devine H, Patani R, La Spada AR, Hanna MG, Greensmith L.

Sci Rep. 2019 Mar 5;9(1):3539. doi: 10.1038/s41598-019-40118-3.

7.

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C, Lu CH, Malik B, Allen K, Rinaldi C, Zetterberg H, Heslegrave A, Greensmith L, Hanna M, Soraru G, Malaspina A, Fratta P.

Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20.

8.

Tissue-enhanced plasma proteomic analysis for disease stratification in amyotrophic lateral sclerosis.

Zubiri I, Lombardi V, Bremang M, Mitra V, Nardo G, Adiutori R, Lu CH, Leoni E, Yip P, Yildiz O, Ward M, Greensmith L, Bendotti C, Pike I, Malaspina A.

Mol Neurodegener. 2018 Nov 7;13(1):60. doi: 10.1186/s13024-018-0292-2.

9.

Evaluation of methodologies for microRNA biomarker detection by next generation sequencing.

Coenen-Stass AML, Magen I, Brooks T, Ben-Dov IZ, Greensmith L, Hornstein E, Fratta P.

RNA Biol. 2018;15(8):1133-1145. doi: 10.1080/15476286.2018.1514236. Epub 2018 Sep 18.

10.

A motor neuron strategy to save time and energy in neurodegeneration: adaptive protein stoichiometry.

Zucchi E, Lu CH, Cho Y, Chang R, Adiutori R, Zubiri I, Ceroni M, Cereda C, Pansarasa O, Greensmith L, Malaspina A, Petzold A.

J Neurochem. 2018 Sep;146(5):631-641. doi: 10.1111/jnc.14542.

11.

Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS.

Luisier R, Tyzack GE, Hall CE, Mitchell JS, Devine H, Taha DM, Malik B, Meyer I, Greensmith L, Newcombe J, Ule J, Luscombe NM, Patani R.

Nat Commun. 2018 May 22;9(1):2010. doi: 10.1038/s41467-018-04373-8.

12.

Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS.

Gibbs KL, Kalmar B, Rhymes ER, Fellows AD, Ahmed M, Whiting P, Davies CH, Greensmith L, Schiavo G.

Cell Death Dis. 2018 May 22;9(6):596. doi: 10.1038/s41419-018-0624-8.

13.

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro.

Wilson ER, Kugathasan U, Abramov AY, Clark AJ, Bennett DLH, Reilly MM, Greensmith L, Kalmar B.

Neurobiol Dis. 2018 Sep;117:1-14. doi: 10.1016/j.nbd.2018.05.008. Epub 2018 May 18.

14.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

15.

Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.

Watson-Scales S, Kalmar B, Lana-Elola E, Gibbins D, La Russa F, Wiseman F, Williamson M, Saccon R, Slender A, Olerinyova A, Mahmood R, Nye E, Cater H, Wells S, Yu YE, Bennett DLH, Greensmith L, Fisher EMC, Tybulewicz VLJ.

PLoS Genet. 2018 May 10;14(5):e1007383. doi: 10.1371/journal.pgen.1007383. eCollection 2018 May.

16.

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR.

Acta Neuropathol. 2018 Sep;136(3):425-443. doi: 10.1007/s00401-018-1852-9. Epub 2018 May 3.

17.

Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington's disease mice.

Bondulich MK, Jolinon N, Osborne GF, Smith EJ, Rattray I, Neueder A, Sathasivam K, Ahmed M, Ali N, Benjamin AC, Chang X, Dick JRT, Ellis M, Franklin SA, Goodwin D, Inuabasi L, Lazell H, Lehar A, Richard-Londt A, Rosinski J, Smith DL, Wood T, Tabrizi SJ, Brandner S, Greensmith L, Howland D, Munoz-Sanjuan I, Lee SJ, Bates GP.

Sci Rep. 2017 Oct 27;7(1):14275. doi: 10.1038/s41598-017-14290-3.

18.

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC.

Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248.

19.

Cellular Chaperones As Therapeutic Targets in ALS to Restore Protein Homeostasis and Improve Cellular Function.

Kalmar B, Greensmith L.

Front Mol Neurosci. 2017 Sep 8;10:251. doi: 10.3389/fnmol.2017.00251. eCollection 2017. Review.

20.

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

Kalmar B, Innes A, Wanisch K, Kolaszynska AK, Pandraud A, Kelly G, Abramov AY, Reilly MM, Schiavo G, Greensmith L.

Hum Mol Genet. 2017 Sep 1;26(17):3313-3326. doi: 10.1093/hmg/ddx216.

21.

Expression of Kv3.1b potassium channel is widespread in macaque motor cortex pyramidal cells: A histological comparison between rat and macaque.

Soares D, Goldrick I, Lemon RN, Kraskov A, Greensmith L, Kalmar B.

J Comp Neurol. 2017 Jun 15;525(9):2164-2174. doi: 10.1002/cne.24192. Epub 2017 Mar 14.

22.

Creating Interactions between Tissue-Engineered Skeletal Muscle and the Peripheral Nervous System.

Smith AS, Passey SL, Martin NR, Player DJ, Mudera V, Greensmith L, Lewis MP.

Cells Tissues Organs. 2016;202(3-4):143-158. Epub 2016 Nov 9.

23.

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.

Lu CH, Allen K, Oei F, Leoni E, Kuhle J, Tree T, Fratta P, Sharma N, Sidle K, Howard R, Orrell R, Fish M, Greensmith L, Pearce N, Gallo V, Malaspina A.

Neurol Neuroimmunol Neuroinflamm. 2016 Jun 1;3(4):e244. doi: 10.1212/NXI.0000000000000244. eCollection 2016 Aug.

24.

Restoring motor function using optogenetics and neural engraftment.

Bryson JB, Machado CB, Lieberam I, Greensmith L.

Curr Opin Biotechnol. 2016 Aug;40:75-81. doi: 10.1016/j.copbio.2016.02.016. Epub 2016 Mar 24. Review.

PMID:
27016703
25.

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease.

Rossor AM, Lu CH, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM.

Muscle Nerve. 2016 Jun;53(6):972-5. doi: 10.1002/mus.25124. Epub 2016 Apr 27. Erratum in: Muscle Nerve. 2017 Jan;55(1):141.

PMID:
27015106
26.

Targeting protein homeostasis in sporadic inclusion body myositis.

Ahmed M, Machado PM, Miller A, Spicer C, Herbelin L, He J, Noel J, Wang Y, McVey AL, Pasnoor M, Gallagher P, Statland J, Lu CH, Kalmar B, Brady S, Sethi H, Samandouras G, Parton M, Holton JL, Weston A, Collinson L, Taylor JP, Schiavo G, Hanna MG, Barohn RJ, Dimachkie MM, Greensmith L.

Sci Transl Med. 2016 Mar 23;8(331):331ra41. doi: 10.1126/scitranslmed.aad4583.

27.

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.

Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A.

Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24.

28.

Targeted Molecular Therapies for SBMA.

Rinaldi C, Malik B, Greensmith L.

J Mol Neurosci. 2016 Mar;58(3):335-42. doi: 10.1007/s12031-015-0676-5. Epub 2015 Nov 17. Review.

PMID:
26576772
29.

The Role of the Protein Quality Control System in SBMA.

Rusmini P, Crippa V, Cristofani R, Rinaldi C, Cicardi ME, Galbiati M, Carra S, Malik B, Greensmith L, Poletti A.

J Mol Neurosci. 2016 Mar;58(3):348-64. doi: 10.1007/s12031-015-0675-6. Epub 2015 Nov 14. Review.

PMID:
26572535
30.

In vivo imaging of axonal transport in murine motor and sensory neurons.

Gibbs KL, Kalmar B, Sleigh JN, Greensmith L, Schiavo G.

J Neurosci Methods. 2016 Jan 15;257:26-33. doi: 10.1016/j.jneumeth.2015.09.018. Epub 2015 Sep 28.

31.

Regulation of Axonal Transport by Protein Kinases.

Gibbs KL, Greensmith L, Schiavo G.

Trends Biochem Sci. 2015 Oct;40(10):597-610. doi: 10.1016/j.tibs.2015.08.003. Review.

PMID:
26410600
32.

210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands.

Pennuto M, Greensmith L, Pradat PF, Sorarù G; European SBMA Consortium.

Neuromuscul Disord. 2015 Oct;25(10):802-12. doi: 10.1016/j.nmd.2015.06.462. Epub 2015 Jun 19. No abstract available.

PMID:
26206601
33.

Neuromuscular Junction Formation in Tissue-Engineered Skeletal Muscle Augments Contractile Function and Improves Cytoskeletal Organization.

Martin NR, Passey SL, Player DJ, Mudera V, Baar K, Greensmith L, Lewis MP.

Tissue Eng Part A. 2015 Oct;21(19-20):2595-604. doi: 10.1089/ten.TEA.2015.0146. Epub 2015 Sep 3.

34.

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

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, Turner MR, Malaspina A.

Neurology. 2015 Jun 2;84(22):2247-57. doi: 10.1212/WNL.0000000000001642. Epub 2015 May 1. Erratum in: Neurology. 2015 Sep 8;85(10):921.

35.

HDAC4-myogenin axis as an important marker of HD-related skeletal muscle atrophy.

Mielcarek M, Toczek M, Smeets CJ, Franklin SA, Bondulich MK, Jolinon N, Muller T, Ahmed M, Dick JR, Piotrowska I, Greensmith L, Smolenski RT, Bates GP.

PLoS Genet. 2015 Mar 6;11(3):e1005021. doi: 10.1371/journal.pgen.1005021. eCollection 2015 Mar.

36.

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A.

Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2.

37.

Tetanus toxin entry. Nidogens are therapeutic targets for the prevention of tetanus.

Bercsenyi K, Schmieg N, Bryson JB, Wallace M, Caccin P, Golding M, Zanotti G, Greensmith L, Nischt R, Schiavo G.

Science. 2014 Nov 28;346(6213):1118-23. doi: 10.1126/science.1258138.

38.

Ongoing developments in sporadic inclusion body myositis.

Machado PM, Ahmed M, Brady S, Gang Q, Healy E, Morrow JM, Wallace AC, Dewar L, Ramdharry G, Parton M, Holton JL, Houlden H, Greensmith L, Hanna MG.

Curr Rheumatol Rep. 2014 Dec;16(12):477. doi: 10.1007/s11926-014-0477-9. Review.

39.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A.

Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27.

40.

Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.

Carroll J, Page TK, Chiang SC, Kalmar B, Bode D, Greensmith L, Mckinnon PJ, Thorpe JR, Hafezparast M, El-Khamisy SF.

Hum Mol Genet. 2015 Feb 1;24(3):828-40. doi: 10.1093/hmg/ddu500. Epub 2014 Sep 30.

41.

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study.

Lu CH, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Greensmith L, Malaspina A.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):565-73. doi: 10.1136/jnnp-2014-307672. Epub 2014 Jul 9.

42.

Loss of Prox1 in striated muscle causes slow to fast skeletal muscle fiber conversion and dilated cardiomyopathy.

Petchey LK, Risebro CA, Vieira JM, Roberts T, Bryson JB, Greensmith L, Lythgoe MF, Riley PR.

Proc Natl Acad Sci U S A. 2014 Jul 1;111(26):9515-20. doi: 10.1073/pnas.1406191111. Epub 2014 Jun 17.

43.

Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.

Montague K, Malik B, Gray AL, La Spada AR, Hanna MG, Szabadkai G, Greensmith L.

Brain. 2014 Jul;137(Pt 7):1894-906. doi: 10.1093/brain/awu114. Epub 2014 Jun 4.

44.

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa.

Parfitt DA, Aguila M, McCulley CH, Bevilacqua D, Mendes HF, Athanasiou D, Novoselov SS, Kanuga N, Munro PM, Coffey PJ, Kalmar B, Greensmith L, Cheetham ME.

Cell Death Dis. 2014 May 22;5:e1236. doi: 10.1038/cddis.2014.214.

45.

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG.

Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9.

46.

Optical control of muscle function by transplantation of stem cell-derived motor neurons in mice.

Bryson JB, Machado CB, Crossley M, Stevenson D, Bros-Facer V, Burrone J, Greensmith L, Lieberam I.

Science. 2014 Apr 4;344(6179):94-7. doi: 10.1126/science.1248523.

47.

Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic lateral sclerosis.

Bros-Facer V, Krull D, Taylor A, Dick JR, Bates SA, Cleveland MS, Prinjha RK, Greensmith L.

Hum Mol Genet. 2014 Aug 15;23(16):4187-200. doi: 10.1093/hmg/ddu136. Epub 2014 Mar 25.

PMID:
24667415
48.

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.

Ricketts T, McGoldrick P, Fratta P, de Oliveira HM, Kent R, Phatak V, Brandner S, Blanco G, Greensmith L, Acevedo-Arozena A, Fisher EM.

PLoS One. 2014 Jan 21;9(1):e85962. doi: 10.1371/journal.pone.0085962. eCollection 2014.

49.

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P.

Neurobiol Aging. 2014 Jun;35(6):1491-8. doi: 10.1016/j.neurobiolaging.2013.12.029. Epub 2013 Dec 30.

50.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H.

Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.

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