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Neurosci."},{"key":"10.1016\/j.ejmg.2017.12.001_bib69","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib70","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.neuron.2014.01.013","article-title":"Microglia induce motor neuron death via the classical NF-\u03baB pathway in amyotrophic lateral sclerosis","volume":"81","author":"Frakes","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.ejmg.2017.12.001_bib71","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1523\/JNEUROSCI.20-07-02534.2000","article-title":"Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases","volume":"20","author":"Frey","year":"2000","journal-title":"J. Neurosci. Off. J. Soc. Neurosci."},{"key":"10.1016\/j.ejmg.2017.12.001_bib72","doi-asserted-by":"crossref","first-page":"2803","DOI":"10.1152\/jn.00500.2012","article-title":"Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability","volume":"109","author":"Fritz","year":"2013","journal-title":"J. Neurophysiol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib73","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1097\/NEN.0b013e318244b635","article-title":"Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice","volume":"71","author":"Gertz","year":"2012","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib74","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1755-5949.2012.00316.x","article-title":"Dietary vitamin D3 supplementation at 10\u00d7 the adequate intake improves functional capacity in the G93A transgenic mouse model of ALS, a pilot study","volume":"18","author":"Gianforcaro","year":"2012","journal-title":"CNS Neurosci. Ther."},{"key":"10.1016\/j.ejmg.2017.12.001_bib75","doi-asserted-by":"crossref","first-page":"37908","DOI":"10.1074\/jbc.274.53.37908","article-title":"A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems","volume":"274","author":"Giesemann","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2017.12.001_bib76","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ana.21344","article-title":"TDP-43 A315T mutation in familial motor neuron disease","volume":"63","author":"Gitcho","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib77","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1212\/WNL.42.5.1037","article-title":"Ocular motor function in motor neuron disease","volume":"42","author":"Gizzi","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2017.12.001_bib78","doi-asserted-by":"crossref","first-page":"3818","DOI":"10.1523\/JNEUROSCI.5775-11.2012","article-title":"Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction","volume":"32","author":"Gogliotti","year":"2012","journal-title":"J. Neurosci. Off. J. Soc. 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Lett."},{"key":"10.1016\/j.ejmg.2017.12.001_bib85","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ejmg.2017.12.001_bib86","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0015887","article-title":"Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late","volume":"5","author":"Hammond","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2017.12.001_bib87","doi-asserted-by":"crossref","first-page":"11465","DOI":"10.1074\/jbc.M111428200","article-title":"alpha-Synuclein protects against oxidative stress via inactivation of the c-Jun N-terminal kinase stress-signaling pathway in neuronal cells","volume":"277","author":"Hashimoto","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2017.12.001_bib88","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ydbio.2012.05.037","article-title":"A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein","volume":"368","author":"Hayhurst","year":"2012","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib89","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1016\/j.clinph.2009.08.009","article-title":"Motoneuron excitability: the importance of neuromodulatory inputs","volume":"120","author":"Heckman","year":"2009","journal-title":"Clin. Neurophysiol. Off. J. Int. Fed. Clin. Neurophysiol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib90","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1093\/brain\/awq167","article-title":"Global gene expression profiling of somatic motor neuron populations with different vulnerability identify molecules and pathways of degeneration and protection","volume":"133","author":"Hedlund","year":"2010","journal-title":"Brain J. Neurol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib91","article-title":"The actin cytoskeleton in SMA and ALS: how does it contribute to motoneuron degeneration?","author":"Hensel","year":"2017","journal-title":"Neurosci. Rev. J. Bringing Neurobiol. Neurol. Psychiatry"},{"key":"10.1016\/j.ejmg.2017.12.001_bib92","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.nbd.2006.05.009","article-title":"Myostatin inhibition slows muscle atrophy in rodent models of amyotrophic lateral sclerosis","volume":"23","author":"Holzbaur","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ejmg.2017.12.001_bib93","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2017.12.001_bib94","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1212\/WNL.42.8.1532","article-title":"Elevated plasma glucagon in amyotrophic lateral sclerosis","volume":"42","author":"Hubbard","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2017.12.001_bib95","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.cell.2012.09.011","article-title":"SMN is required for sensory-motor circuit function in Drosophila","volume":"151","author":"Imlach","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2017.12.001_bib96","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1002\/glia.22891","article-title":"NLRP3 inflammasome is expressed by astrocytes in the SOD1 mouse model of ALS and in human sporadic ALS patients","volume":"63","author":"Johann","year":"2015","journal-title":"Glia"},{"key":"10.1016\/j.ejmg.2017.12.001_bib97","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/ng.132","article-title":"TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis","volume":"40","author":"Kabashi","year":"2008","journal-title":"Nat. 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Genet."},{"key":"10.1016\/j.ejmg.2017.12.001_bib102","doi-asserted-by":"crossref","first-page":"3421","DOI":"10.1093\/hmg\/dds174","article-title":"Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies","volume":"21","author":"Kariya","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.12.001_bib103","first-page":"932","article-title":"SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy","volume":"26","author":"Khairallah","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.12.001_bib104","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.bbamcr.2017.02.011","article-title":"SMN1 functions as a novel inhibitor for TRAF6-mediated NF-\u03baB signaling","volume":"1864","author":"Kim","year":"2017","journal-title":"Biochim. Biophys. 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Physiol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib114","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1440-1789.2008.00910.x","article-title":"An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)","volume":"29","author":"Kuru","year":"2009","journal-title":"Neuropathol. Off. J. Jpn. Soc. Neuropathol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib115","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1126\/science.1166066","article-title":"Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis","volume":"323","author":"Kwiatkowski","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2017.12.001_bib116","doi-asserted-by":"crossref","first-page":"E8316","DOI":"10.1073\/pnas.1605210113","article-title":"Gamma motor neurons survive and exacerbate alpha motor neuron degeneration in ALS","volume":"113","author":"Lalancette-Hebert","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejmg.2017.12.001_bib117","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ceb.2007.09.012","article-title":"Skeletal muscle satellite cells and adult myogenesis","volume":"19","author":"Le Grand","year":"2007","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib118","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN","volume":"14","author":"Le","year":"2005","journal-title":"Hum. Mol. 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Zurich Switz."},{"key":"10.1016\/j.ejmg.2017.12.001_bib124","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.cell.2016.07.031","article-title":"Metabolic control of longevity","volume":"166","author":"L\u00f3pez-Ot\u00edn","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2017.12.001_bib125","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s00415-015-7924-z","article-title":"Strictly monitored exercise programs reduce motor deterioration in ALS: preliminary results of a randomized controlled trial","volume":"263","author":"Lunetta","year":"2016","journal-title":"J. Neurol."},{"key":"10.1016\/j.ejmg.2017.12.001_bib126","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/mus.20004","article-title":"Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis","volume":"29","author":"Mahoney","year":"2004","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ejmg.2017.12.001_bib127","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1523\/JNEUROSCI.23-08-03095.2003","article-title":"Alpha-synuclein overexpression protects against paraquat-induced neurodegeneration","volume":"23","author":"Manning-Bog","year":"2003","journal-title":"J. Neurosci. Off. J. Soc. Neurosci."},{"key":"10.1016\/j.ejmg.2017.12.001_bib128","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000338061","article-title":"Altered in vitro proliferation of mouse SOD1-G93A skeletal muscle satellite cells","volume":"11","author":"Manzano","year":"2013","journal-title":"Neurodegener. 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