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Items: 25

1.

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.

Iacoangeli A, Al Khleifat A, Jones AR, Sproviero W, Shatunov A, Opie-Martin S; Alzheimer’s Disease Neuroimaging Initiative, Morrison KE, Shaw PJ, Shaw CE, Fogh I, Dobson RJ, Newhouse SJ, Al-Chalabi A.

Acta Neuropathol Commun. 2019 Jul 17;7(1):115. doi: 10.1186/s40478-019-0724-4.

2.

DNAscan: personal computer compatible NGS analysis, annotation and visualisation.

Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Morgan SL, Pittman A, Dobson RJ, Newhouse SJ, Al-Chalabi A.

BMC Bioinformatics. 2019 Apr 27;20(1):213. doi: 10.1186/s12859-019-2791-8.

3.

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Al Khleifat A, Iacoangeli A, Shatunov A, Fang T, Sproviero W, Jones AR, Opie-Martin S, Morrison KE, Shaw PJ, Shaw CE, Powell JF, Dobson R, Newhouse SJ, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):229-234. doi: 10.1080/21678421.2019.1586951. Epub 2019 Apr 1.

4.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Opie-Martin S, Naselli E, Topp SD, Fogh I, Hodges A, Dobson RJ, Newhouse SJ, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):207-215. doi: 10.1080/21678421.2018.1562553. Epub 2019 Mar 5.

5.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.

Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium.

Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22.

6.

The multistep hypothesis of ALS revisited: The role of genetic mutations.

Chiò A, Mazzini L, D'Alfonso S, Corrado L, Canosa A, Moglia C, Manera U, Bersano E, Brunetti M, Barberis M, Veldink JH, van den Berg LH, Pearce N, Sproviero W, McLaughlin R, Vajda A, Hardiman O, Rooney J, Mora G, Calvo A, Al-Chalabi A.

Neurology. 2018 Aug 14;91(7):e635-e642. doi: 10.1212/WNL.0000000000005996. Epub 2018 Jul 25.

7.

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK.

J Med Genet. 2018 Sep;55(9):607-616. doi: 10.1136/jmedgenet-2018-105319. Epub 2018 May 22.

8.

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.

van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J, Borghero G, Volanti P, Diekstra FP, van Rheenen W, Verstraete E, Eijkemans MJC, Veldink JH, Chio A, Al-Chalabi A, van den Berg LH, van Es MA; For UKMND-LiCALS and LITALS Study Group.

Neurology. 2017 Oct 31;89(18):1915-1922. doi: 10.1212/WNL.0000000000004606. Epub 2017 Oct 4. Review. Erratum in: Neurology. 2017 Nov 28;89(22):2303.

9.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA.

Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.

10.

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, Pittman A, Al-Chalabi A.

Brain. 2017 Jun 1;140(6):1611-1618. doi: 10.1093/brain/awx082.

11.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

12.

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF, Leigh PN, Morrison KE, Shaw PJ, Shaw CE, van den Berg LH, Veldink JH, Lewis CM, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):593-599. Epub 2016 Sep 1.

13.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

14.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

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, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

15.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J.

JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.

16.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A.

Neurobiol Aging. 2015 Mar;36(3):1600.e5-8. doi: 10.1016/j.neurobiolaging.2014.12.017. Epub 2014 Dec 20.

PMID:
25588603
17.

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O, McGuffin P, Ellis CM, Shaw PJ, Morrison KE, Farmer A, Lewis CM, Leigh PN, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2013 Sep;34(9):2234.e1-7. doi: 10.1016/j.neurobiolaging.2013.03.003. Epub 2013 Apr 12.

18.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V.

Neurology. 2012 Dec 11;79(24):2315-20. doi: 10.1212/WNL.0b013e318278b618. Epub 2012 Nov 28.

PMID:
23197749
19.

SMN1 gene copy number analyses for SMA healthy carriers in Italian population.

Patitucci A, Magariello A, Ungaro C, Muglia M, Conforti FL, Gabriele AL, Citrigno L, Sproviero W, Mazzei R.

J Pediatr Genet. 2012 Jun;1(2):99-102. doi: 10.3233/PGE-2012-017.

20.

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, Muglia M.

Muscle Nerve. 2012 Jun;45(6):919-20. doi: 10.1002/mus.23360. No abstract available.

PMID:
22581552
21.

FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A, Conforti FL.

Neurobiol Aging. 2012 Apr;33(4):837.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.005. Epub 2011 Nov 4.

PMID:
22055719
22.

Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease.

Tarantino P, Annesi F, Scornaienchi V, Rocca FE, De Marco EV, Civitelli D, Provenzano G, Sproviero W, Greco V, Annesi G.

Hum Genet. 2010 Apr;127(4):463. No abstract available.

PMID:
21506293
23.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis.

Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, Magariello A, Patitucci A, La Bella V, Sprovieri T, Tedeschi G, Citrigno L, Gabriele AL, Bono F, Monsurrò MR, Muglia M, Gambardella A, Quattrone A.

J Neurol Neurosurg Psychiatry. 2011 May;82(5):587-8. doi: 10.1136/jnnp.2009.198309. Epub 2010 Oct 19. No abstract available.

PMID:
20959352
24.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.

Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7.

PMID:
20927530
25.

Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.

Rocca FE, De Marco EV, Annesi F, Civitelli D, Provenzano G, Sproviero W, Scornaienchi V, Greco V, Tarantino P, Annesi G.

Hum Genet. 2010 Apr;127(4):463. doi: 10.1007/s00439-010-0788-5. No abstract available.

PMID:
20135149

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