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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. Sproviero W, et al. Among authors: fratta p. Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24. Neurobiol Aging. 2017. PMID: 28017481 Free PMC article.
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Beck J, et al. Among authors: fratta p. Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434116 Free PMC article.
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Fratta P, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309268 Free PMC article.
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. Cortese A, et al. Among authors: fratta p. Neurobiol Aging. 2014 Jun;35(6):1491-8. doi: 10.1016/j.neurobiolaging.2013.12.029. Epub 2013 Dec 30. Neurobiol Aging. 2014. PMID: 24462217 Free PMC article.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN; Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ. Johnson JO, et al. Among authors: fratta p. Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30. Nat Neurosci. 2014. PMID: 24686783 Free PMC article.
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. Fratta P, et al. Neurology. 2014 Jun 10;82(23):2077-84. doi: 10.1212/WNL.0000000000000507. Epub 2014 May 9. Neurology. 2014. PMID: 24814851 Free PMC article.
119 results