Publications & Talks
Our Research / Publications & Talks
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Sep;33(9):2231.e1-2231.e6. Epub 2012 May 8.
PubMed LinkA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. Epub 2011 Sep 21.
PubMed LinkPresymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS.
Carew JD, Nair G, Andersen PM, Wuu J, Gronka S, Hu X, Benatar M. Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS. Neurology. 2011 Oct 4;77(14):1370-5. Epub 2011 Sep 21.
PubMed LinkMultipoint incremental motor unit number estimation as an outcome measure in ALS.
Shefner JM, Watson ML, Simionescu L, Caress JB, Burns TM, Maragakis NJ, Benatar M, David WS, Sharma KR, Rutkove SB. Multipoint incremental motor unit number estimation as an outcome measure in ALS. Neurology. 2011 Jul 19;77(3):235-41. Epub 2011 Jun 15.
PubMed LinkTowards a neuroimaging biomarker for amyotrophic lateral sclerosis.
Turner MR, Grosskreutz J, Kassubek J, Abrahams S, Agosta F, Benatar M, Filippi M, Goldstein LH, van den Heuvel M, Kalra S, Lulé D, Mohammadi B; first Neuroimaging Symosium in ALS (NISALS). Towards a neuroimaging biomarker for amyotrophic lateral sclerosis. Lancet Neurol. 2011 May;10(5):400-3.
PubMed LinkThe Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: have we put the cart before the horse?
Benatar M, Tandan R. The Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: have we put the cart before the horse? Muscle Nerve. 2011 Apr;43(4):461-3. Epub 2010 Dec 9.
PubMed LinkImpact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.
Fanos JH, Gronka S, Wuu J, Stanislaw C, Andersen PM, Benatar M. Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. Genet Med. 2011 Apr;13(4):342-8.
PubMed LinkEnteral tube feeding for amyotrophic lateral sclerosis/motor neuron disease.
Katzberg HD, Benatar M. Enteral tube feeding for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2011 Jan 19;2011(1):CD004030.
PubMed LinkMagnetic resonance spectroscopy of the cervical cord in amyotrophic lateral sclerosis.
Carew JD, Nair G, Pineda-Alonso N, Usher S, Hu X, Benatar M. Magnetic resonance spectroscopy of the cervical cord in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011 May;12(3):185-91. Epub 2010 Dec 14.
PubMed LinkPreparing for a U.S. National ALS Registry: Lessons from a pilot project in the State of Georgia.
Benatar M, Wuu J, Usher S, Ward K. Preparing for a U.S. National ALS Registry: Lessons from a pilot project in the State of Georgia. Amyotroph Lateral Scler. 2011 Mar;12(2):130-5. Epub 2010 Sep 15.
PubMed LinkExome sequencing reveals VCP mutations as a cause of familial ALS.
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G; ITALSGEN Consortium, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64.
PubMed LinkDiffusion tensor imaging reveals regional differences in the cervical spinal cord in amyotrophic lateral sclerosis.
Nair G, Carew JD, Usher S, Lu D, Hu XP, Benatar M. Diffusion tensor imaging reveals regional differences in the cervical spinal cord in amyotrophic lateral sclerosis. Neuroimage. 2010 Nov 1;53(2):576-83. Epub 2010 Jun 28.
PubMed LinkUtility of axial and radial diffusivity from diffusion tensor MRI as markers of neurodegeneration in amyotrophic lateral sclerosis.
Metwalli NS, Benatar M, Nair G, Usher S, Hu X, Carew JD. Utility of axial and radial diffusivity from diffusion tensor MRI as markers of neurodegeneration in amyotrophic lateral sclerosis. Brain Res. 2010 Aug 12;1348:156-64. Epub 2010 Jun 1.
PubMed LinkTreatment for familial amyotrophic lateral sclerosis/motor neuron disease.
Benatar M, Kurent J, Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Jan 21;2009(1):CD006153.
PubMed LinkNeuroscience: Standard model.
Schnabel J. Neuroscience: Standard model. Nature. 2008 Aug 7;454(7205):682-5.
PubMed Link