Genetics of amyotrophic lateral sclerosis

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062 · see citing works

Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576 · see citing works

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Vance, C. A., Rogelj, B., Hortobágyi, T., Vos, K. J. D., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B. N., Ruddy, D., Wright, P. D., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,531 · see citing works

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J. M., Kasarskis, E. J., Munsat, T. L., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,526 · see citing works

Amyotrophic Lateral Sclerosis

Rowland, L. P., & Shneider, N. A. (2001) · New England Journal of Medicine · doi:10.1056/nejm200105313442207 · Cited by 1,851 · see citing works

State of play in amyotrophic lateral sclerosis genetics

Renton, A. E., Chiò, A., & Traynor, B. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,563 · see citing works

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Elden, A. C., Kim, H.-J., Hart, M. P., Chen‐Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R. A., Lu, M. M., et al. (2010) · Nature · doi:10.1038/nature09320 · Cited by 1,327 · see citing works

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235 · see citing works

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70043-1 · Cited by 1,210 · see citing works

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., et al. (2011) · Nature · doi:10.1038/nature10353 · Cited by 1,174 · see citing works

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Nishimura, A. L., Mitne‐Neto, M., da Silva, H. C. A., Richieri‐Costa, A., Middleton, S., Cascio, D., Kok, F., de Oliveira, J. R. M., Gillingwater, T. H., Webb, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425287 · Cited by 995 · see citing works

Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with <i>SOD1</i> mutations

Mackenzie, I. R. A., Bigio, E. H., Ince, P. G., Geser, F., Neumann, M., Cairns, N. J., Kwong, L. K., Forman, M. S., Ravits, J., Stewart, H., et al. (2007) · Annals of Neurology · doi:10.1002/ana.21147 · Cited by 992 · see citing works

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966 · see citing works

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Chen, Y.-Z., Bennett, C. L., Huynh, H. M., Blair, I. P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M. L., Rabin, B. A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421054 · Cited by 809 · see citing works

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4000 · Cited by 786 · see citing works

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Andersen, P. M., & Al-Chalabi, A. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.150 · Cited by 687 · see citing works

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C. G., Patterson, V., Swingler, R. J., Kieran, D., Prehn, J. H. M., et al. (2006) · Nature Genetics · doi:10.1038/ng1742 · Cited by 668 · see citing works

&lt;emph type="ital"&gt;SQSTM1&lt;/emph&gt; Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Fecto, F. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.250 · Cited by 650 · see citing works

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

PARALS Registry, van Rheenen, W., SLALOM Group, SLAP Registry, NNIPPS Study Group, Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., et al. (2016) · Nature Genetics · doi:10.1038/ng.3622 · Cited by 574 · see citing works

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas‐Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., et al. (2014) · Brain · doi:10.1093/brain/awu138 · Cited by 482 · see citing works

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., DeJesus-Hernandez, M., Rutherford, N. J., Baker, M., Knopman, D. S., Wszolek, Z. K., et al. (2012) · Brain · doi:10.1093/brain/aws001 · Cited by 397 · see citing works

Genetics of amyotrophic lateral sclerosis: an update

Chen, S., Sayana, P., Zhang, X., & Le, W. (2013) · Molecular Neurodegeneration · doi:10.1186/1750-1326-8-28 · Cited by 323 · see citing works

The cognitive profile of ALS: a systematic review and meta-analysis update

Beeldman, E., Raaphorst, J., Klein Twennaar, M., de Visser, M., Schmand, B. A., & de Haan, R. J. (2016) · Journal of Neurology, Neurosurgery &amp; Psychiatry · doi:10.1136/jnnp-2015-310734 · Cited by 313 · see citing works

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Hoecke, A. V., Schoonaert, L., Lemmens, R., Timmers, M., Staats, K. A., Laird, A. S., Peeters, E., Philips, T., Goris, A., Dubois, B., et al. (2012) · Nature Medicine · doi:10.1038/nm.2901 · Cited by 304 · see citing works

Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia

Andersen, P. M. (1997) · Brain · doi:10.1093/brain/120.10.1723 · Cited by 301 · see citing works

Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?

Mitsumoto, H., Brooks, B. R., & Silani, V. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70129-2 · Cited by 291 · see citing works

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B., Diekstra, F. P., van Rheenen, W., van Eijk, K. R., Jones, A. R., Keagle, P. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3626 · Cited by 281 · see citing works

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Başaran, S., Munhoz, R. P., Rogaeva, E. A., George‐Hyslop, P. S., Bernardi, G., et al. (2010) · Brain · doi:10.1093/brain/awp325 · Cited by 274 · see citing works

TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

Lattante, S., Rouleau, G. A., & Kabashi, E. (2013) · Human Mutation · doi:10.1002/humu.22319 · Cited by 262 · see citing works

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Teyssou, E., Takeda, T., Lebon, V., Boillée, S., Doukouré, B., Bataillon, G., Sazdovitch, V., Cazeneuve, C., Meininger, V., LeGuern, E., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1090-0 · Cited by 241 · see citing works

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

Cady, J., Allred, P., Bali, T., Pestronk, A., Goate, A., Miller, T. M., Mitra, R. D., Ravits, J., Harms, M. B., & Baloh, R. H. (2014) · Annals of Neurology · doi:10.1002/ana.24306 · Cited by 220 · see citing works

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Williams, K. L., Topp, S. D., Yang, S., Smith, B. N., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N. E., Vance, C. A., Hu, X., et al. (2016) · Nature Communications · doi:10.1038/ncomms11253 · Cited by 207 · see citing works

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

van Es, M. A., Schelhaas, H. J., van Vught, P. W. J., Ticozzi, N., Andersen, P. M., Groen, E. J. N., Schulte, C., Blauw, H. M., Koppers, M., Diekstra, F. P., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22611 · Cited by 201 · see citing works

Epidemiologic Investigations of Amyotrophic Lateral Sclerosis

Kurland, L. T., & Mulder, D. W. (1955) · Neurology · doi:10.1212/wnl.5.3.182 · Cited by 194 · see citing works

Reduced expression of the Kinesin-Associated Protein 3 ( KIFAP3 ) gene increases survival in sporadic amyotrophic lateral sclerosis

Landers, J. E., Melki, J., Meininger, V., Glass, J. D., van den Berg, L. H., van Es, M. A., Sapp, P. C., van Vught, P. W. J., McKenna-Yasek, D. M., Blauw, H. M., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812937106 · Cited by 183 · see citing works

p62 Accumulates and Enhances Aggregate Formation in Model Systems of Familial Amyotrophic Lateral Sclerosis

Gál, J., Ström, A., Kilty, R., Zhang, F., & Zhu, H. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m608787200 · Cited by 176 · see citing works

NEK1 mutations in familial amyotrophic lateral sclerosis

Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D. E., Hübers, A., Neuwirth, C., Weber, M., Borck, G., et al. (2016) · Brain · doi:10.1093/brain/aww033 · Cited by 146 · see citing works

Proposed criteria for familial amyotrophic lateral sclerosis

Byrne, S., Bede, P., Elamin, M., Kenna, K. P., Lynch, C. M., McLaughlin, R. L., & Hardiman, O. M. (2011) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2010.545420 · Cited by 145 · see citing works

Mechanisms of toxicity in C9FTLD/ALS

Gendron, T. F., Belzil, V., Zhang, Y., & Petrucelli, L. (2014) · Acta Neuropathologica · doi:10.1007/s00401-013-1237-z · Cited by 144 · see citing works

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

Diekstra, F. P., van Vught, P. W. J., van Rheenen, W., Koppers, M., Pasterkamp, R. J., van Es, M. A., Schelhaas, H. J., de Visser, M., Robberecht, W., Damme, P. V., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.10.029 · Cited by 144 · see citing works

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

Conte, A., Lattante, S., Zollino, M., Marangi, G., Luigetti, M., Grande, A. D., Servidei, S., Trombetta, F., & Sabatelli, M. (2011) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.08.003 · Cited by 137 · see citing works

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Lattante, S., Ciura, S., Rouleau, G. A., & Kabashi, E. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.005 · Cited by 125 · see citing works

Recent advances in the genetics of amyotrophic lateral sclerosis

Valdmanis, P. N., Daoud, H., Dion, P. A., & Rouleau, G. A. (2009) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-009-0030-9 · Cited by 122 · see citing works

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis

Diekstra, F. P., Deerlin, V. M. V., Swieten, J. C. V., Al‐Chalabi, A., Ludolph, A. C., Weishaupt, J. H., Hardiman, O. M., Landers, J. E., Brown, R. H., van Es, M. A., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24198 · Cited by 121 · see citing works

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

Chaussenot, A., Ber, I. L., Ait-El-Mkadem, S., Camuzat, A., de Septenville, A. L., Bannwarth, S., Genin, E. C., Serre, V., Augé, G., Brice, A., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.07.022 · Cited by 115 · see citing works

Association of apolipoprotein E ∈4 allele with bulbar-onset motor neuron disease

Al‐Chalabi, A., Bakker, M. C., Shaw, C. E., Lloyd, C., Enayat, Z. E., Leigh, P. N., Sham, P. C., Ball, D. M., & Powell, J. F. (1996) · The Lancet · doi:10.1016/s0140-6736(96)90343-8 · Cited by 114 · see citing works

Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort

Van Mossevelde, S., van der Zee, J., Gijselinck, I., Engelborghs, S., Sieben, A., Van Langenhove, T., De Bleecker, J., Baets, J., Vandenbulcke, M., Van Laere, K., et al. (2016) · Brain · doi:10.1093/brain/awv358 · Cited by 98 · see citing works

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

van Blitterswijk, M., Mullen, B., Heckman, M. G., Baker, M., DeJesus‐Hernandez, M., Brown, P. H., Murray, M. E., Hsiung, G. R., Stewart, H. G., Karydas, A. M., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.04.016 · Cited by 97 · see citing works

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

Yamashita, S., & Ando, Y. (2015) · Translational Neurodegeneration · doi:10.1186/s40035-015-0036-y · Cited by 94 · see citing works

Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis

Moulard, B., Sefiani, A., Laamri, A., Malafosse, A., & Camu, W. (1996) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(96)00085-8 · Cited by 93 · see citing works

Genetics of familial ALS and consequences for diagnosis

Camu, W., Khoris, J., Moulard, B., Salachas, F., Briolotti, V., Rouleau, G. A., & Meininger, V. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00022-2 · Cited by 92 · see citing works

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts

Le Ber, I., De Septenville, A., Millecamps, S., Camuzat, A., Caroppo, P., Couratier, P., Blanc, F., Lacomblez, L., Sellal, F., Fleury, M.-C., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.08.009 · Cited by 89 · see citing works

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

Lattante, S., Millecamps, S., Stévanin, G., Rivaud-Péchoux, S., Moigneu, C., Camuzat, A., da Barroca, S., Mundwiller, E., Couarch, P., Salachas, F., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000778 · Cited by 85 · see citing works

Screening of OPTN in French familial amyotrophic lateral sclerosis

Millecamps, S., Boillée, S., Chabrol, E., Camu, W., Cazeneuve, C., Salachas, F., Pradat, P., Danel-Brunaud, V., Vandenberghe, N., Corcia, P., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.11.005 · Cited by 84 · see citing works

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Corcia, P., Valdmanis, P. N., Millecamps, S., Lionnet, C., Blasco, H., Mouzat, K., Daoud, H., Belzil, V., Morales, R. J., Pageot, N., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182553c88 · Cited by 84 · see citing works

Epidemiologic Investigations of Amyotrophic Lateral Sclerosis

Kurland, L. T., & Mulder, D. W. (1955) · Neurology · doi:10.1212/wnl.5.4.249 · Cited by 83 · see citing works

Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11)

Winner, B., Uyanik, G., Groß, C., Lange, M., Schulte‐Mattler, W., Schuierer, G. R., Marienhagen, J., Hehr, U., & Winkler, J. (2004) · Archives of Neurology · doi:10.1001/archneur.61.1.117 · Cited by 82 · see citing works

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

Chiò, A., Mora, G., Restagno, G., Brunetti, M., Ossola, I., Barberis, M., Ferrucci, L., Canosa, A., Manera, U., Moglia, C., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.07.016 · Cited by 81 · see citing works

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J., Nürnberg, P., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.08.005 · Cited by 78 · see citing works

Association of a Locus in theCAMTA1Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Fogh, I., Lin, K., Tiloca, C., Rooney, J. P. K., Gellera, C., Diekstra, F. P., Ratti, A., Shatunov, A., van Es, M. A., Proitsi, P., et al. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.1114 · Cited by 68 · see citing works

Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis

Paubel, A. (2008) · Archives of Neurology · doi:10.1001/archneur.65.10.1333 · Cited by 61 · see citing works

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

Byrne, S., Heverin, M., Elamin, M., Walsh, C., & Hardiman, O. M. (2013) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2013.838586 · Cited by 56 · see citing works

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

Cooper‐Knock, J., Kirby, J., Highley, J. R., & Shaw, P. J. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0342-1 · Cited by 54 · see citing works

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis

Siddique, T., Pericak‐Vance, M. A., Caliendo, J., Hong, S., Hung, W. ‐., Kaplan, J., McKenna-Yasek, D. M., Rimmler, J. B., Sapp, P. C., Saunders, A. M., et al. (1998) · Neurogenetics · doi:10.1007/s100480050031 · Cited by 54 · see citing works

Molecular Mechanisms in Amyotrophic Lateral Sclerosis: The Role of Angiogenin, a Secreted RNase

Aparicio, I. M., & Prehn, J. H. M. (2012) · Frontiers in Neuroscience · doi:10.3389/fnins.2012.00167 · Cited by 41 · see citing works

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

Millecamps, S., Corcia, P., Cazeneuve, C., Boillée, S., Seilhean, D., Danel-Brunaud, V., Vandenberghe, N., Pradat, P.-F., Le Forestier, N., Lacomblez, L., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.11.010 · Cited by 40 · see citing works

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

Mis, M. S. C., Brajkovic, S., Tafuri, F., Bresolin, N., Comi, G. P., & Corti, S. P. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9993-0 · Cited by 37 · see citing works

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Traynor, B. J., Nalls, M. A., Lai, S.-L., Gibbs, J. R., Schymick, J. C., Arepalli, S., Hernandez, D. G., van der Brug, M. P., Johnson, J. O., Dillman, A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914079107 · Cited by 30 · see citing works

An expansion in ALS genetics

Lagier‐Tourenne, C., & Cleveland, D. W. (2010) · Nature · doi:10.1038/4661052a · Cited by 30 · see citing works

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

Avemaria, F., Lunetta, C., Tarlarini, C., Mosca, L., Maestri, E., Marocchi, A., Melazzini, M. G., Penco, S., & Corbo, M. (2011) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2011.566930 · Cited by 29 · see citing works

Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: Molecular similarities and differences

Neumann, M. (2013) · Revue Neurologique · doi:10.1016/j.neurol.2013.07.019 · Cited by 28 · see citing works

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

van Doormaal, P. T. C., Ticozzi, N., Gellera, C., Ratti, A., Taroni, F., Chiò, A., Calvo, A., Mora, G., Restagno, G., Traynor, B. J., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.04.014 · Cited by 18 · see citing works

C9orf72 repeats compromise nucleocytoplasmic transport

van Blitterswijk, M., & Rademakers, R. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.219 · Cited by 15 · see citing works

Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients

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Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

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