{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:12:45Z","timestamp":1790291565493,"version":"4.1.0"},"reference-count":90,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T00:00:00Z","timestamp":1573257600000},"content-version":"vor","delay-in-days":312,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100020221","name":"Irish Motor Neurone Disease Association","doi-asserted-by":"publisher","award":["957-799"],"award-info":[{"award-number":["957-799"]}],"id":[{"id":"10.13039\/501100020221","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010414","name":"Health Research Board","doi-asserted-by":"publisher","award":["EIA-2017-019"],"award-info":[{"award-number":["EIA-2017-019"]}],"id":[{"id":"10.13039\/100010414","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013029","name":"Iris O&apos;Brien Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["15\/SPP\/3244"],"award-info":[{"award-number":["15\/SPP\/3244"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["17\/CDA\/4737"],"award-info":[{"award-number":["17\/CDA\/4737"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003840","name":"Irish Institute of Clinical Neuroscience","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003840","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["NeuroImage: Clinical"],"published-print":{"date-parts":[[2019]]},"DOI":"10.1016\/j.nicl.2019.102089","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T11:52:10Z","timestamp":1573559530000},"page":"102089","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":84,"special_numbering":"C","title":["Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling"],"prefix":"10.1016","volume":"24","author":[{"given":"Eoin","family":"Finegan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Li Hi Shing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rangariroyashe H.","family":"Chipika","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C.","family":"Hengeveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Vajda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colette","family":"Donaghy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niall","family":"Pender","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell L.","family":"McLaughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orla","family":"Hardiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0492-4772","authenticated-orcid":false,"given":"Peter","family":"Bede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nicl.2019.102089_bib0001","doi-asserted-by":"crossref","DOI":"10.2196\/mhealth.2706","article-title":"Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)","volume":"1","author":"Abel","year":"2013","journal-title":"JMIR mHealth and uHealth"},{"key":"10.1016\/j.nicl.2019.102089_bib0002","article-title":"Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes","author":"Abidi","year":"2019","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nicl.2019.102089_bib0003","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3109\/21678421.2013.805784","article-title":"Screening for cognition and behaviour changes in ALS","volume":"15","author":"Abrahams","year":"2014","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0004","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1002\/hbm.22286","article-title":"Intrahemispheric and interhemispheric structural network abnormalities in PLS and ALS","volume":"35","author":"Agosta","year":"2014","journal-title":"Hum Brain Mapp"},{"key":"10.1016\/j.nicl.2019.102089_bib0005","first-page":"1","article-title":"The histological correlates of imaging metrics: postmortem validation of in vivo findings","author":"Bede","year":"2019","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.nicl.2019.102054","article-title":"Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study.","author":"Bede","year":"2019","journal-title":"Neuroimage: Clinical"},{"key":"10.1016\/j.nicl.2019.102089_bib0006","article-title":"Sexual dimorphism in ALS: Exploring gender-specific neuroimaging signatures","author":"Bede","year":"2013","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0007","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1212\/01.wnl.0000437313.80913.2c","article-title":"Basal ganglia involvement in amyotrophic lateral sclerosis","volume":"81","author":"Bede","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0008","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1080\/21678421.2017.1392578","article-title":"Revisiting the pathoanatomy of pseudobulbar affect: mechanisms beyond corticobulbar dysfunction","volume":"19","author":"Bede","year":"2018","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0009","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1080\/21678421.2017.1407795","article-title":"Longitudinal structural changes in ALS: a three time-point imaging study of white and gray matter degeneration","volume":"19","author":"Bede","year":"2018","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0010","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.nicl.2017.06.010","article-title":"Virtual brain biopsies in amyotrophic lateral sclerosis: Diagnostic classification based on in vivo pathological patterns","volume":"15","author":"Bede","year":"2017","journal-title":"NeuroImage Clinical"},{"key":"10.1016\/j.nicl.2019.102089_bib0011","doi-asserted-by":"crossref","first-page":"561","DOI":"10.3109\/21678421.2016.1173702","article-title":"The selective anatomical vulnerability of ALS: \u2018disease-defining\u2019 and \u2018disease-defying\u2019 brain regions","volume":"17","author":"Bede","year":"2016","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0012","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s11682-018-9837-9","article-title":"Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study","volume":"12","author":"Bede","year":"2018","journal-title":"Brain imaging and behavior"},{"key":"10.1016\/j.nicl.2019.102089_bib0013","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1097\/WCO.0000000000000569","article-title":"The changing landscape of motor neuron disease imaging: the transition from descriptive studies to precision clinical tools","volume":"31","author":"Bede","year":"2018","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nicl.2019.102089_bib0014","first-page":"1","article-title":"A case of late-onset OCD developing PLS and FTD","author":"Bersano","year":"2018","journal-title":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0015","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ana.23937","article-title":"Stages of pTDP-43 pathology in amyotrophic lateral sclerosis","volume":"74","author":"Brettschneider","year":"2013","journal-title":"Annals of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0016","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/146608200300079536","article-title":"World Federation of Neurology Research Group on Motor Neuron D (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis","volume":"1","author":"Brooks","year":"2000","journal-title":"Amyotrophic lateral sclerosis and other motor neuron disorders: official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases"},{"key":"10.1016\/j.nicl.2019.102089_bib0017","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0160850","article-title":"Measurement of Social Cognition in Amyotrophic Lateral Sclerosis: A Population Based Study","volume":"11","author":"Burke","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.nicl.2019.102089_bib0018","first-page":"87","article-title":"Decreased thickness of primary motor cortex in primary lateral sclerosis","volume":"28","author":"Butman","year":"2007","journal-title":"American Journal of Neuroradiology"},{"key":"10.1016\/j.nicl.2019.102089_bib0019","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S1474-4422(12)70014-5","article-title":"Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study","volume":"11","author":"Byrne","year":"2012","journal-title":"Lancet neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0020","doi-asserted-by":"crossref","first-page":"229","DOI":"10.3389\/fneur.2019.00229","article-title":"Tracking a Fast-Moving Disease: Longitudinal Markers, Monitoring, and Clinical Trial Endpoints in ALS","volume":"10","author":"Chipika","year":"2019","journal-title":"Frontiers in neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0021","first-page":"1","article-title":"Investigating the neuroanatomical substrate of pathological laughing and crying in amyotrophic lateral sclerosis with multimodal neuroimaging techniques","author":"Christidi","year":"2017","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"10.1016\/j.nicl.2019.102089_bib0022","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1080\/21678421.2017.1386689","article-title":"Investigating the neuroanatomical substrate of pathological laughing and crying in amyotrophic lateral sclerosis with multimodal neuroimaging techniques","volume":"19","author":"Christidi","year":"2018","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0023","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.3389\/fneur.2018.01005","article-title":"Clinical and Radiological Markers of Extra-Motor Deficits in Amyotrophic Lateral Sclerosis","volume":"9","author":"Christidi","year":"2018","journal-title":"Frontiers in neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0024","series-title":"Hippocampal pathology in Amyotrophic Lateral Sclerosis: selective vulnerability of subfields and their associated projections","author":"Christidi","year":"2019"},{"key":"10.1016\/j.nicl.2019.102089_bib0025","doi-asserted-by":"crossref","first-page":"523","DOI":"10.3389\/fneur.2018.00523","article-title":"The Clinical and Radiological Spectrum of Hippocampal Pathology in Amyotrophic Lateral Sclerosis","volume":"9","author":"Christidi","year":"2018","journal-title":"Frontiers in neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0026","first-page":"80","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms","volume":"6","author":"Cingolani","year":"2012","journal-title":"SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly"},{"key":"10.1016\/j.nicl.2019.102089_bib0027","first-page":"216","article-title":"Neuroimaging changes in the first 5 years of symptoms in patients with primary lateral sclerosis","volume":"18","author":"Clark","year":"2017","journal-title":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0028","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1080\/21678421.2018.1517180","article-title":"Loss of functional connectivity is an early imaging marker in primary lateral sclerosis","volume":"19","author":"Clark","year":"2018","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0029","unstructured":"Clinicaltrials.gov (2019) Sinemet for Spasticity and Function in Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis (ALS and PLS). In, ClincialTrials.gov {Internet]. Bethesda (MD)."},{"key":"10.1016\/j.nicl.2019.102089_bib0030","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1080\/21678421.2017.1354996","article-title":"A case series of PLS patients with frontotemporal dementia and overview of the literature","volume":"18","author":"de Vries","year":"2017","journal-title":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0031","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1080\/21678421.2019.1620284","article-title":"A neuropsychological and behavioral study of PLS","volume":"20","author":"de Vries","year":"2019","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0032","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/j.neuroimage.2006.01.021","article-title":"An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest","volume":"31","author":"Desikan","year":"2006","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0033","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1212\/WNL.0b013e31828f18ac","article-title":"Cognitive changes predict functional decline in ALS: a population-based longitudinal study","volume":"80","author":"Elamin","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0034","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1212\/WNL.0b013e318214359f","article-title":"Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia","volume":"76","author":"Elamin","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0035","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1080\/21678421.2016.1248976","article-title":"Identifying behavioural changes in ALS: Validation of the Beaumont Behavioural Inventory (BBI)","volume":"18","author":"Elamin","year":"2017","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0036","doi-asserted-by":"crossref","DOI":"10.1007\/s00415-018-8964-y","article-title":"Extrapyramidal deficits in ALS: a combined biomechanical and neuroimaging study","author":"Feron","year":"2018","journal-title":"Journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0037","doi-asserted-by":"crossref","DOI":"10.1007\/s00415-019-09473-z","article-title":"The clinical and radiological profile of primary lateral sclerosis: a population-based study","author":"Finegan","year":"2019","journal-title":"Journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0038","first-page":"260","article-title":"Pathological Crying and Laughing in Motor Neuron Disease: Pathobiology, Screening","volume":"10","author":"Finegan","year":"2019","journal-title":"Intervention. Frontiers in neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0039","first-page":"1","article-title":"Primary lateral sclerosis: a distinct entity or part of the ALS spectrum?","author":"Finegan","year":"2019","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0040","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.neuroimage.2012.01.021","article-title":"FreeSurfer","volume":"62","author":"Fischl","year":"2012","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0041","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1212\/WNL.0000000000000693","article-title":"Impaired corticopontocerebellar tracts underlie pseudobulbar affect in motor neuron disorders","volume":"83","author":"Floeter","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0042","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3109\/17482960903171136","article-title":"Progression in primary lateral sclerosis: a prospective analysis","volume":"10","author":"Floeter","year":"2009","journal-title":"Amyotrophic Lateral Sclerosis"},{"key":"10.1016\/j.nicl.2019.102089_bib0043","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1176\/appi.ajp.162.7.1256","article-title":"Structural brain magnetic resonance imaging of limbic and thalamic volumes in pediatric bipolar disorder","volume":"162","author":"Frazier","year":"2005","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.nicl.2019.102089_bib0044","first-page":"37","article-title":"Pathological TDP-43 in a case of primary lateral sclerosis","volume":"30","author":"Fu","year":"2010","journal-title":"Dementia and Geriatric Cognitive Disorders"},{"key":"10.1016\/j.nicl.2019.102089_bib0045","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.pneurobio.2011.08.011","article-title":"On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia","volume":"95","author":"Geser","year":"2011","journal-title":"Progress in neurobiology"},{"key":"10.1016\/j.nicl.2019.102089_bib0046","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1007\/s00415-008-0685-1","article-title":"Neuroanatomy of pseudobulbar affect: a quantitative MRI study in multiple sclerosis","volume":"255","author":"Ghaffar","year":"2008","journal-title":"Journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0047","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1212\/01.wnl.0000200962.94777.71","article-title":"The natural history of primary lateral sclerosis","volume":"66","author":"Gordon","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0048","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1212\/01.wnl.0000200962.94777.71","article-title":"The natural history of primary lateral sclerosis","volume":"66","author":"Gordon","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0049","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3389\/fnins.2019.00135","article-title":"Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions","volume":"13","author":"Grollemund","year":"2019","journal-title":"Frontiers in neuroscience"},{"key":"10.1016\/j.nicl.2019.102089_bib0050","doi-asserted-by":"crossref","DOI":"10.1080\/21678421.2019.1632347","article-title":"Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis","author":"Hirsch-Reinshagen","year":"2019","journal-title":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0051","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.neuroimage.2015.04.042","article-title":"A computational atlas of the hippocampal formation using ex vivo, ultra-high resolution MRI: Application to adaptive segmentation of in vivo MRI","volume":"115","author":"Iglesias","year":"2015","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0052","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1093\/brain\/awr178","article-title":"White matter alterations differ in primary lateral sclerosis and amyotrophic lateral sclerosis","volume":"134","author":"Iwata","year":"2011","journal-title":"Brain: a journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0053","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S1361-8415(01)00036-6","article-title":"A global optimisation method for robust affine registration of brain images","volume":"5","author":"Jenkinson","year":"2001","journal-title":"Medical image analysis"},{"key":"10.1016\/j.nicl.2019.102089_bib0054","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1093\/brain\/awu090","article-title":"Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology","volume":"137","author":"Kassubek","year":"2014","journal-title":"Brain: a journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0055","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1136\/jmedgenet-2013-101795","article-title":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing","volume":"50","author":"Kenna","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.nicl.2019.102089_bib0056","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.neurol.2015.02.017","article-title":"Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting","volume":"171","author":"Klebe","year":"2015","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.nicl.2019.102089_bib0057","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1440-1789.2011.01271.x","article-title":"Primary lateral sclerosis: upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration\u2013immunohistochemical and biochemical analyses of TDP-43","volume":"32","author":"Kosaka","year":"2012","journal-title":"Neuropathology: official journal of the Japanese Society of Neuropathology"},{"key":"10.1016\/j.nicl.2019.102089_bib0058","doi-asserted-by":"crossref","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, Genome Project Data Processing S (2009) The Sequence Alignment\/Map format and SAMtools. Bioinformatics (Oxford, England) 25:2078-2079.","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"10.1016\/j.nicl.2019.102089_bib0059","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1136\/jnnp.2003.035212","article-title":"Primary lateral sclerosis presenting parkinsonian symptoms without nigrostriatal involvement. Journal of Neurology","volume":"75","author":"Mabuchi","year":"2004","journal-title":"Neurosurgery and Psychiatry"},{"key":"10.1016\/j.nicl.2019.102089_bib0060","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1212\/WNL.0000000000002017","article-title":"Basal ganglia pathology in ALS is associated with neuropsychological deficits","volume":"85","author":"Machts","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0061","doi-asserted-by":"crossref","unstructured":"Martin M (2011) Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnetjournal.","DOI":"10.14806\/ej.17.1.200"},{"key":"10.1016\/j.nicl.2019.102089_bib0062","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2014.08.030","article-title":"Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis","volume":"36","author":"McLaughlin","year":"2015","journal-title":"Neurobiology of aging"},{"key":"10.1016\/j.nicl.2019.102089_bib0063","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1016\/j.nicl.2018.03.018","article-title":"Identical patterns of cortico-efferent tract involvement in primary lateral sclerosis and amyotrophic lateral sclerosis: A tract of interest-based MRI study","volume":"18","author":"M\u00fcller","year":"2018","journal-title":"NeuroImage: Clinical"},{"key":"10.1016\/j.nicl.2019.102089_bib0064","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/hbm.1058","article-title":"Nonparametric permutation tests for functional neuroimaging: a primer with examples","volume":"15","author":"Nichols","year":"2002","journal-title":"Hum Brain Mapp"},{"key":"10.1016\/j.nicl.2019.102089_bib0065","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1212\/01.wnl.0000188759.87240.8b","article-title":"The effects of executive and behavioral dysfunction on the course of ALS","volume":"65","author":"Olney","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0066","first-page":"1","article-title":"Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study","author":"Omer","year":"2017","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0067","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003153","article-title":"GEMINI: integrative exploration of genetic variation and genome annotations","volume":"9","author":"Paila","year":"2013","journal-title":"PLoS computational biology"},{"key":"10.1016\/j.nicl.2019.102089_bib0068","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.neuroimage.2011.02.046","article-title":"A Bayesian model of shape and appearance for subcortical brain segmentation","volume":"56","author":"Patenaude","year":"2011","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0069","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1136\/jnnp-2011-300188","article-title":"The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study","volume":"83","author":"Phukan","year":"2012","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"key":"10.1016\/j.nicl.2019.102089_bib0070","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1038\/s41431-018-0177-4","article-title":"Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis","volume":"26","author":"Project Min","year":"2018","journal-title":"European journal of human genetics: EJHG"},{"key":"10.1016\/j.nicl.2019.102089_bib0071","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"American journal of human genetics"},{"key":"10.1016\/j.nicl.2019.102089_bib0072","doi-asserted-by":"crossref","DOI":"10.1136\/jnnp-2017-317214","article-title":"Multimodal spinal cord MRI offers accurate diagnostic classification in ALS","author":"Querin","year":"2018","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"key":"10.1016\/j.nicl.2019.102089_bib0073","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1093\/brain\/awr179","article-title":"Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia","volume":"134","author":"Rascovsky","year":"2011","journal-title":"Brain: a journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0074","first-page":"67","volume":"6","author":"Rowland","year":"2005","journal-title":"Research Group on Motor Neuron Diseases"},{"key":"10.1016\/j.nicl.2019.102089_bib0075","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1136\/jnnp-2014-309888","article-title":"Presymptomatic and longitudinal neuroimaging in neurodegeneration\u2013from snapshots to motion picture: a systematic review","volume":"86","author":"Schuster","year":"2015","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"key":"10.1016\/j.nicl.2019.102089_bib0076","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1111\/ene.13038","article-title":"The segmental diffusivity profile of amyotrophic lateral sclerosis associated white matter degeneration","volume":"23","author":"Schuster","year":"2016","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nicl.2019.102089_bib0077","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0167331","article-title":"Development of an Automated MRI-Based Diagnostic Protocol for Amyotrophic Lateral Sclerosis Using Disease-Specific Pathognomonic Features: A Quantitative Disease-State Classification Study","volume":"11","author":"Schuster","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.nicl.2019.102089_bib0078","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s12883-017-0854-x","article-title":"Survival prediction in Amyotrophic lateral sclerosis based on MRI measures and clinical characteristics","volume":"17","author":"Schuster","year":"2017","journal-title":"BMC Neurol"},{"key":"10.1016\/j.nicl.2019.102089_bib0079","doi-asserted-by":"crossref","first-page":"2856","DOI":"10.1007\/s00415-013-7083-z","article-title":"Focal thinning of the motor cortex mirrors clinical features of amyotrophic lateral sclerosis and their phenotypes: a neuroimaging study","volume":"260","author":"Schuster","year":"2013","journal-title":"Journal of neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0080","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.neuroimage.2008.03.061","article-title":"Threshold-free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference","volume":"44","author":"Smith","year":"2009","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0081","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1046\/j.1440-1789.1999.00203.x","article-title":"A case of primary lateral sclerosis taking a prolonged clinical course with dementia and having an unusual dendritic ballooning","volume":"19","author":"Sugihara","year":"1999","journal-title":"Neuropathology: official journal of the Japanese Society of Neuropathology"},{"key":"10.1016\/j.nicl.2019.102089_bib0082","first-page":"55","article-title":"Prevalence, associations and course of depression in ALS: Observations from a large cohort","volume":"15","author":"Thakore","year":"2014","journal-title":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"},{"key":"10.1016\/j.nicl.2019.102089_bib0083","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1002\/hbm.20971","article-title":"Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging","volume":"31","author":"Unrath","year":"2010","journal-title":"Hum Brain Mapp"},{"key":"10.1016\/j.nicl.2019.102089_bib0084","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.2967\/jnumed.115.166272","article-title":"Prospective validation of 18\u202fF-FDG brain PET discriminant analysis methods in the diagnosis of amyotrophic lateral sclerosis","volume":"57","author":"Van Weehaeghe","year":"2016","journal-title":"Journal of Nuclear Medicine"},{"key":"10.1016\/j.nicl.2019.102089_bib0085","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1016\/j.neurobiolaging.2014.09.002","article-title":"Subcortical structures in amyotrophic lateral sclerosis","volume":"36","author":"Westeneng","year":"2015","journal-title":"Neurobiology of aging"},{"key":"10.1016\/j.nicl.2019.102089_bib0086","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.neuroimage.2014.01.060","article-title":"Permutation inference for the general linear model","volume":"92","author":"Winkler","year":"2014","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2019.102089_bib0087","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0105753","article-title":"Linear associations between clinically assessed upper motor neuron disease and diffusion tensor imaging metrics in amyotrophic lateral sclerosis","volume":"9","author":"Woo","year":"2014","journal-title":"PLoS ONE [Electronic Resource]"},{"key":"10.1016\/j.nicl.2019.102089_bib0088","doi-asserted-by":"crossref","first-page":"106","DOI":"10.3389\/fneur.2019.00106","article-title":"Clinical Measures of Bulbar Dysfunction in ALS","volume":"10","author":"Yunusova","year":"2019","journal-title":"Frontiers in neurology"},{"key":"10.1016\/j.nicl.2019.102089_bib0089","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1109\/42.906424","article-title":"Segmentation of brain MR images through a hidden Markov random field model and the expectation-maximization algorithm","volume":"20","author":"Zhang","year":"2001","journal-title":"IEEE transactions on medical imaging"}],"container-title":["NeuroImage: Clinical"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221315821930436X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S221315821930436X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T04:26:45Z","timestamp":1761971205000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S221315821930436X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":90,"alternative-id":["S221315821930436X"],"URL":"https:\/\/doi.org\/10.1016\/j.nicl.2019.102089","relation":{},"ISSN":["2213-1582"],"issn-type":[{"value":"2213-1582","type":"print"}],"subject":[],"published":{"date-parts":[[2019]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling","name":"articletitle","label":"Article Title"},{"value":"NeuroImage: Clinical","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nicl.2019.102089","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"102089"}}