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Publications:  Dr Andrea Malaspina

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM et al.(2916). ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging vol. 51, Article e1-178.e9, 178.e1-178.e9.
10.1016/j.neurobiolaging.2016.11.010
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55500
Lombardi V, Carassiti D, Giovannoni G, Lu CH, Adiutori R, Malaspina A(2020). Author Correction: The potential of neurofilaments analysis using dry-blood and plasma spots (Scientific Reports, (2020), 10, 1, (97), 10.1038/s41598-019-54310-y). Scientific Reports vol. 10, (1)
10.1038/s41598-020-67914-6
Lombardi V, Carassiti D, Giovannoni G, Lu CH, Adiutori R, Malaspina A(2020). The potential of neurofilaments analysis using dry-blood and plasma spots. Scientific Reports vol. 10, (1)
10.1038/s41598-019-54310-y
Lombardi V, Bombaci A, Zampedri L, Lu C-H, Malik B, Zetterberg H, Heslegrave AJ, Rinaldi C et al.(2020). Plasma pNfH levels differentiate SBMA from ALS. J Neurol Neurosurg Psychiatry vol. 91, (2) 215-217.
10.1136/jnnp-2019-320624
Leoni E, Bremang M, Mitra V, Zubiri I, Jung S, Lu CH, Adiutori R, Lombardi V et al.(2019). Combined Tissue-Fluid Proteomics to Unravel Phenotypic Variability in Amyotrophic Lateral Sclerosis. Scientific Reports vol. 9, (1)
10.1038/s41598-019-40632-4
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56425
Wagley S, Bokori-Brown M, Morcrette H, Malaspina A, D'Arcy C, Gnanapavan S, Lewis N, Popoff MR et al.(2019). Evidence of Clostridium perfringens epsilon toxin associated with multiple sclerosis. Mult Scler vol. 25, (5) 653-660.
10.1177/1352458518767327
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55499
Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C et al.(2019). Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy. Neurology vol. 92, (11) E1205-E1211.
10.1212/WNL.0000000000007097
https://qmro.qmul.ac.uk/xmlui/handle/123456789/58927
Gkiouleka A, Manning A, Smith D, Malaspina A, Gallo V(2019). Charity financial support to motor neuron disease (MND) patients in Greater London: the impact of patients' socioeconomic status-a cross-sectional study. BMJ Open vol. 9, (2)
10.1136/bmjopen-2018-022462
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56075
Zubiri I, Lombardi V, Bremang M, Mitra V, Nardo G, Adiutori R, Lu CH, Leoni E et al.(2018). Tissue-enhanced plasma proteomic analysis for disease stratification in amyotrophic lateral sclerosis. Molecular Neurodegeneration vol. 13, (1)
10.1186/s13024-018-0292-2
https://qmro.qmul.ac.uk/xmlui/handle/123456789/51043
Zucchi E, Lu CH, Cho Y, Chang R, Adiutori R, Zubiri I, Ceroni M, Cereda C et al.(2018). A motor neuron strategy to save time and energy in neurodegeneration: adaptive protein stoichiometry. Journal of Neurochemistry vol. 146, (5) 631-641.
10.1111/jnc.14542
https://qmro.qmul.ac.uk/xmlui/handle/123456789/58939
Yildiz O, Mao Z, Adams A, Dubuisson N, Allen-Philbey K, Giovannoni G, Malaspina A, Baker D et al.(2018). Disease activity in progressive multiple sclerosis can be effectively reduced by cladribine. Multiple Sclerosis and Related Disorders vol. 24, 20-27.
10.1016/j.msard.2018.05.010
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42224
Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D et al.(2018). Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism. eLife vol. 7,
10.7554/eLife.37754
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55465
Benatar M, Wuu J, Andersen PM, Lombardi V, Malaspina A(2018). Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion. Annals of Neurology vol. 84, (1) 130-139.
10.1002/ana.25276
https://qmro.qmul.ac.uk/xmlui/handle/123456789/58985
Adiutori R, Aarum J, Zubiri I, Bremang M, Jung S, Sheer D, Pike I, Malaspina A(2018). The proteome of neurofilament-containing protein aggregates in blood. Biochemistry and Biophysics Reports vol. 14, 168-177.
10.1016/j.bbrep.2018.04.010
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55464
Keddie S, Adams A, Kelso ARC, Turner B, Schmierer K, Gnanapavan S, Malaspina A, Giovannoni G et al.(2018). No laughing matter: subacute degeneration of the spinal cord due to nitrous oxide inhalation. Journal of Neurology vol. 265, (5) 1089-1095.
10.1007/s00415-018-8801-3
https://qmro.qmul.ac.uk/xmlui/handle/123456789/35883
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ et al.(2018). Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron vol. 97, (6) 1268-1283.e6.
10.1016/j.neuron.2018.02.027
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56461
Rossor AM, Sandelius A, Adiutori R, Malaspina A, Blennow K, Zetterberg H, Reilly MM (2018). PLASMA NEUROFILAMENT LIGHT CHAIN LEVELS ARE RAISED IN PATIENTS WITH INHERITED PERIPHERAL NEUROPATHY AND CORRELATE WITH DISEASE SEVERITY. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. Conference: 11th UK Neuromuscular Translational Research Conference from: 20/04/2018 to: 18/04/2018, vol. 22, 369-370.
10.1016/S0960-8966(18)30356-0
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56427
Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM(2018). Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology vol. 90, (6) e518-e524.
10.1212/WNL.0000000000004932
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55466
Gallo V, McElvenny D, Hobbs C, Davoren D, Morris H, Crutch S, Zetterberg H, Fox NC et al.(2017). BRain health and healthy AgeINg in retired rugby union players, the BRAIN Study: study protocol for an observational study in the UK. BMJ Open vol. 7, (12) Article e017990, e017990-e017990.
10.1136/bmjopen-2017-017990
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54244
Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A et al.(2017). A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain vol. 140, (6) 1611-1618.
10.1093/brain/awx082
https://qmro.qmul.ac.uk/xmlui/handle/123456789/51763
McLaughlin RL, Schijven D, Van Rheenen W, Van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A et al.(2017). Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications vol. 8,
10.1038/ncomms14774
https://qmro.qmul.ac.uk/xmlui/handle/123456789/45483
Rossor AM, Lu C-H, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM(2016). Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease (vol 53, pg 972, 2016). MUSCLE & NERVE vol. 55, (1) 141-141.
10.1002/mus.25226
https://qmro.qmul.ac.uk/xmlui/handle/123456789/59099
Van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, Van Der Spek RAA, Võsa U et al.(2016). Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics vol. 48, (9) 1043-1048.
10.1038/ng.3622
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15591
McGeachan AJ, Hobson EV, Al-Chalabi A, Stephenson J, Chandran S, Crawley F, Dick D, Donaghy C et al.(2016). A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration vol. 18, (1-2) 1-9.
10.1080/21678421.2016.1221433
https://qmro.qmul.ac.uk/xmlui/handle/123456789/59024
Rossor AM, Liu C-H, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM(2016). PLASMA NEUROFILAMENT HEAVY CHAIN IS NOT A USEFUL BIOMARKER IN CHARCOT-MARIE-TOOTH DISEASE. MUSCLE & NERVE vol. 53, (6) 972-975.
10.1002/mus.25124
Rossor AM, Liu CH, Petzold A, Malaspina A, Laura M, Greensmith L, Reilly MM (2016). Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease. Muscle and Nerve. vol. 53, 972-975.
10.1002/mus.25124
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15454
Lu C-H, Allen K, Oei F, Leoni E, Kuhle J, Tree T, Fratta P, Sharma N et al.(2016). Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis. Neurology - Neuroimmunology Neuroinflammation vol. 3, (4) e244-e244.
10.1212/NXI.0000000000000244
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15558
Puentes F, Malaspina A, Van Noort JM, Amor S(2016). Non-neuronal cells in ALS: Role of glial, immune cells and blood-CNS barriers. Brain Pathology vol. 26, (2) 248-257.
10.1111/bpa.12352
Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R et al.(2016). CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Brain vol. 139, (2)
10.1093/brain/awv223
(2015). Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology vol. 85, (10) 921.2-921.
10.1212/wnl.0000000000001986
Menke RAL, Gray E, Lu CH, Kuhle J, Talbot K, Malaspina A, Turner MR(2015). CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Annals of Clinical and Translational Neurology vol. 2, (7) 748-755.
10.1002/acn3.212
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55497
ProGas Study Group(2015). Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. Lancet Neurol vol. 14, (7) 702-709.
10.1016/S1474-4422(15)00104-0
Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P et al.(2015). Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology vol. 84, (22) 2247-2257.
10.1212/wnl.0000000000001642
https://qmro.qmul.ac.uk/xmlui/handle/123456789/7441
Lu C-H, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J et al.(2015). Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study. J Neurol Neurosurg Psychiatry vol. 86, (5) 565-573.
10.1136/jnnp-2014-307672
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55492
Pettingill P, Kramer HB, Coebergh JA, Pettingill R, Maxwell S, Nibber A, Malaspina A, Jacob A et al.(2015). Antibodies to GABAA receptor α1 and γ2 subunits: clinical and serologic characterization. Neurology vol. 84, (12) 1233-1241.
10.1212/WNL.0000000000001326
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55495
Malaspina A, Puentes F, Amor S(2015). Disease origin and progression in amyotrophic lateral sclerosis: an immunology perspective. Int Immunol vol. 27, (3) 117-129.
10.1093/intimm/dxu099
Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W et al.(2015). Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging vol. 36, (3) 1600.e5-1600.e8.
10.1016/j.neurobiolaging.2014.12.017
Kuhle J, Gaiottino J, Leppert D, Petzold A, Bestwick JP, Malaspina A, Lu C-H, Dobson R et al.(2015). Serum neurofilament light chain is a biomarker of human spinal cord injury severity and outcome. J Neurol Neurosurg Psychiatry vol. 86, (3) 273-279.
10.1136/jnnp-2013-307454
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E et al.(2015). Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging vol. 36, (1) 546.e1-546.e7.
10.1016/j.neurobiolaging.2014.07.037
Amor S, van der Star BJ, Bosca I, Raffel J, Gnanapavan S, Watchorn J, Kuhle J, Giovannoni G et al.(2014). Neurofilament light antibodies in serum reflect response to natalizumab treatment in multiple sclerosis. Mult Scler vol. 20, (10) 1355-1362.
10.1177/1352458514521887
Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A et al.(2014). Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology vol. 82, (23) 2077-2084.
10.1212/WNL.0000000000000507
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55491
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y et al.(2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci vol. 17, (5) 664-666.
10.1038/nn.3688
https://qmro.qmul.ac.uk/xmlui/handle/123456789/56704
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K et al.(2014). Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry vol. 85, (5) 506-508.
10.1136/jnnp-2013-306761
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55467
Puentes F, Topping J, Kuhle J, van der Star BJ, Douiri A, Giovannoni G, Baker D, Amor S et al.(2014). Immune reactivity to neurofilament proteins in the clinical staging of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry vol. 85, (3) 274-278.
10.1136/jnnp-2013-305494
Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J et al.(2013). Management of sialorrhoea in motor neuron disease: a survey of current UK practice. Amyotroph Lateral Scler Frontotemporal Degener vol. 14, (7-8) 521-527.
10.3109/21678421.2013.790452
Kuhle J, Plattner K, Bestwick JP, Lindberg RL, Ramagopalan SV, Norgren N, Nissim A, Malaspina A et al.(2013). A comparative study of CSF neurofilament light and heavy chain protein in MS. Mult Scler vol. 19, (12) 1597-1603.
10.1177/1352458513482374
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J et al.(2013). Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet vol. 92, (3) 345-353.
10.1016/j.ajhg.2013.01.011
Cristante E, McArthur S, Mauro C, Maggioli E, Romero IA, Wylezinska-Arridge M, Couraud PO, Lopez-Tremoleda J et al.(2013). Identification of an essential endogenous regulator of blood-brain barrier integrity, and its pathological and therapeutic implications. Proc Natl Acad Sci U S A vol. 110, (3) 832-841.
10.1073/pnas.1209362110
Gaiottino J, Norgren N, Dobson R, Topping J, Nissim A, Malaspina A, Bestwick JP, Monsch AU et al.(2013). Increased neurofilament light chain blood levels in neurodegenerative neurological diseases. PLoS One vol. 8, (9)
10.1371/journal.pone.0075091
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54859
Yip PK, Pizzasegola C, Gladman S, Biggio ML, Marino M, Jayasinghe M, Ullah F, Dyall SC et al.(2013). The omega-3 fatty acid eicosapentaenoic acid accelerates disease progression in a model of amyotrophic lateral sclerosis. PLoS One vol. 8, (4)
10.1371/journal.pone.0061626
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5124
Lu CH, Petzold A, Kalmar B, Dick J, Malaspina A, Greensmith L(2012). Plasma neurofilament heavy chain levels correlate to markers of late stage disease progression and treatment response in SOD1(G93A) mice that model ALS. PLoS One
10.1371/journal.pone.0040998
Yip PK, Malaspina A(2012). Spinal cord trauma and the molecular point of no return. Mol Neurodegener vol. 7,
10.1186/1750-1326-7-6
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5318
Lu C-H, Petzold A, Kalmar B, Dick J, Malaspina A, Greensmith L(2012). Plasma neurofilament heavy chain levels correlate to markers of late stage disease progression and treatment response in SOD1(G93A) mice that model ALS. PLoS One vol. 7, (7)
10.1371/journal.pone.0040998
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5428
Otto M, Bowser R, Turner M, Berry J, Brettschneider J, Connor J, Costa J, Cudkowicz M et al.(2012). Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS. Amyotroph Lateral Scler vol. 13, (1) 1-10.
10.3109/17482968.2011.627589
Lu C-H, Kalmar B, Malaspina A, Greensmith L, Petzold A(2011). A method to solubilise protein aggregates for immunoassay quantification which overcomes the neurofilament "hook" effect. J Neurosci Methods vol. 195, (2) 143-150.
10.1016/j.jneumeth.2010.11.026
LU C, Kalmar B, Malaspina A, Greensmith L, Petzold A(2010). A method to solubilise protein aggregates for immunoassay quantification which overcomes the neurofilament “hook” effect. J Neurosci Methods vol. 195, (2) 143-150.
10.1016/j.jneumeth.2010.11.026
Jokic N, Yip PK, Michael-Titus A, Priestley JV, Malaspina A(2010). The human G93A-SOD1 mutation in a pre-symptomatic rat model of amyotrophic lateral sclerosis increases the vulnerability to a mild spinal cord compression. BMC Genomics vol. 11,
10.1186/1471-2164-11-633
https://qmro.qmul.ac.uk/xmlui/handle/123456789/14690
Lu C, Malaspina A, Orrell R, Kalmar B, Petzold A, Greensmith L(2010). PONM06 Plasma neurofilament heavy chain levels as a disease biomarker in the SOD1 mouse model of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry vol. 81, (11)
10.1136/jnnp.2010.226340.179
Malaspina A, Ngoh SFA, Ward RE, Hall JCE, Tai FWD, Yip PK, Jones C, Jokic N et al.(2010). Activation transcription factor-3 activation and the development of spinal cord degeneration in a rat model of amyotrophic lateral sclerosis. Neuroscience vol. 169, (2) 812-827.
10.1016/j.neuroscience.2010.04.053
Malaspina A, Jokic N, Huang WL, Priestley JV(2008). Comparative analysis of the time-dependent functional and molecular changes in spinal cord degeneration induced by the G93A SOD1 gene mutation and by mechanical compression. BMC Genomics vol. 9,
10.1186/1471-2164-9-500
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55498
Malaspina AC, Cavalcanti HR, Leite CQF, Machado SMA, Viana BHJ, Silva RMG, Hage EF, Figueiredo WM et al.(2008). Usefulness of Mycobacterium tuberculosis molecular typing in a tuberculosis low-endemic agro-industrial setting of Brazil. Jpn J Infect Dis vol. 61, (3) 231-233.
Malaspina A, Michael-Titus AT(2008). Is the modulation of retinoid and retinoid-associated signaling a future therapeutic strategy in neurological trauma and neurodegeneration?. J Neurochem vol. 104, (3) 584-595.
10.1111/j.1471-4159.2007.05071.x
Jokic N, Ling YY, Ward RE, Michael-Titus AT, Priestley JV, Malaspina A(2007). Retinoid receptors in chronic degeneration of the spinal cord: observations in a rat model of amyotrophic lateral sclerosis. J Neurochem vol. 103, (5) 1821-1833.
10.1111/j.1471-4159.2007.04893.x
Malaspina A, Turkheimer F(2007). A review of the functional role and of the expression profile of retinoid signaling and of nuclear receptors in human spinal cord. Brain Res Bull vol. 71, (5) 437-446.
10.1016/j.brainresbull.2006.10.032
Cereda C, Gabanti E, Corato M, de Silvestri A, Alimonti D, Cova E, Malaspina A, Ceroni M(2006). Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler vol. 7, (4) 227-234.
10.1080/17482960600864413
Malaspina A, de Belleroche J(2004). Spinal cord molecular profiling provides a better understanding of Amyotrophic Lateral Sclerosis pathogenesis. BRAIN RES REV vol. 45, (3) 213-229.
10.1016/j.brainsrev.2004.04.002
Malaspina A, de Belleroche J(2004). Spinal cord molecular profiling provides a better understanding of amyotrophic lateral sclerosis pathogenesis. Brain Res Brain Res Rev vol. 45, (3) 213-229.
10.1016/j.brainresrev.2004.04.002
Malaspina A, Pearce RKB, Graeber MB(2003). Nuclear hormone and orphan receptors: their role in neuronal differentiation and cytoprotection and in the pathogenesis of Parkinson's disease. Dev Neurosci vol. 25, (6) 375-383.
10.1159/000075663
Malaspina A, Alimonti D, Poloni TE, Ceroni M(2002). Disease clustering: the example of ALS, PD, dementia and hereditary ataxias in Italy. Funct Neurol vol. 17, (4) 177-182.
Curti D, Rognoni F, Alimonti D, Malaspina A, Feletti F, Tessera S, Finotti N, Rehak L et al.(2002). SOD1 activity and protective factors in familial ALS patients with L84F SOD1 mutation. Amyotroph Lateral Scler Other Motor Neuron Disord vol. 3, (3) 115-122.
10.1080/146608202760834111
Malaspina A, Kaushik N, de Belleroche J (2001). A survey of trinucleotide/tandem repeat-containing transcripts (TNRTs) isolated from human spinal cord to identify genes containing unstable DNA regions as candidates for disorders of motor function. Brain Res Bull. vol. 56, 299-306.
10.1016/s0361-9230(01)00597-4
Malaspina A, Kaushik N, de Belleroche J(2001). Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays. J Neurochem vol. 77, (1) 132-145.
10.1046/j.1471-4159.2001.t01-1-00231.x
Malaspina A, Kaushik N, de Belleroche J(2000). A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. J Neurochem vol. 75, (6) 2511-2520.
10.1046/j.1471-4159.2000.0752511.x
Alimonti D, Malaspina A, Poloni TE, Ceroni M(2000). Genotype-phenotype correlation in familial amyotrophic lateral sclerosis with SOD1 mutation. Funct Neurol vol. 15, (3) 177-191.
Ceroni M, Poloni TE, Tonietti S, Fabozzi D, Uggetti C, Frediani F, Simonetti F, Malaspina A et al.(2000). Migraine with aura and white matter abnormalities: Notch3 mutation. Neurology vol. 54, (9) 1869-1871.
10.1212/wnl.54.9.1869
Kaushik N, Malaspina A, de Belleroche J(2000). Characterization of trinucleotide- and tandem repeat-containing transcripts obtained from human spinal cord cDNA library by high-density filter hybridization. DNA Cell Biol vol. 19, (5) 265-273.
10.1089/10445490050021177
Mitchell J, Habgood JJ, Orrell RW, Kaushik N, Malaspina A, Gardiner IM, Greenwood JS, de Belleroche JS(2000). Identifying gene defects in motor neurone disease /amyotrophic lateral sclerosis families that lack Cu/Zn superoxide dismutase mutations. EUR J NEUROSCI vol. 12, 226-226.
Orrell RW, Habgood JJ, Malaspina A, Mitchell J, Greenwood J, Lane RJ, deBelleroche JS (1999). Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci. vol. 169, 56-60.
10.1016/s0022-510x(99)00216-6
Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, Imbesi F, Antonelli P et al.(1999). Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology vol. 53, (5) 1064-1071.
10.1212/wnl.53.5.1064
Poloni TE, Alimonti D, Montagna G, Segagni S, Imbesi F, Malaspina A, Ceroni M(1999). Renal tubular impairment during riluzole therapy. Neurology vol. 52, (3)
10.1212/wnl.52.3.670-a
Malaspina A, Zaman R, Mazzini L, Camana C, Poloni E, Curti D, Ceroni M(1999). Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey. J Neurol Sci vol. 162, (2) 201-204.
10.1016/s0022-510x(98)00237-8
de Belleroche J, Orrell RW, Virgo L, Habgood J, Gardiner IM, Malaspina A, Kaushik N, Mitchell J et al. (1998). Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis. Biochem Soc Trans. vol. 26, 476-480.
10.1042/bst0260476
Kaushik N, Malaspina A, Schalling M, Baas F, de Belleroche J(1998). Isolation and characterization of trinucleotide repeat containing partial transcripts in human spinal cord. Neurogenetics vol. 1, (4) 239-247.
10.1007/s100480050035
Rognoni F, Malaspina A, Poloni E, Camana C, Facchini M, Giardini I, Cremona K, Rahak L et al.(1998). Different pathways of oxidative injury in sporadic and familial amyotrophic lateral sclerosis (ALS). EUR J NEUROSCI vol. 10, 374-374.
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