Bệnh Xơ cứng vận động thể nguyên phát

citation_journal_title=Neurology; citation_title=Eye movements in patients with neurodegenerative disorders. Nature reviews; citation_author=TJ Anderson, MR Macaskill; citation_volume=9; citation_publication_date=2013; citation_pages=74-85; citation_id=CR1 citation_journal_title=Amyotroph Lateral Scler Frontotemporal Degener; citation_title=Deficits in sentence expression in amyotrophic lateral sclerosis; citation_author=S Ash, C Olm, CT Mcmillan; citation_volume=16; citation_publication_date=2015; citation_pages=31-39; citation_doi=10.3109/21678421.2014.974617; citation_id=CR2 citation_journal_title=Brain; citation_title=Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.; citation_author=BF Boeve, KB Boylan, NR Graff-Radford; citation_volume=135; citation_publication_date=2012; citation_pages=765-783; citation_doi=10.1093/brain/aws004; citation_id=CR3 citation_journal_title=Neurology; citation_title=Amyotrophic lateral sclerosis – a model of corticofugal axonal spread. Nature reviews; citation_author=H Braak, J Brettschneider, AC Ludolph; citation_volume=9; citation_publication_date=2013; citation_pages=708-714; citation_id=CR4 citation_journal_title=Allg Zeitschrift Fur Psychiatr Psychol Med; citation_title=Pick’s disease and amyotrophic lateral sclerosis; citation_author=A Braumühl; citation_volume=96; citation_publication_date=1932; citation_pages=364-366; citation_id=CR5 citation_journal_title=Ann Neurol; citation_title=Stages of pTDP-43 pathology in amyotrophic lateral sclerosis; citation_author=J Brettschneider, K Tredici, JB Toledo; citation_volume=74; citation_publication_date=2013; citation_pages=20-38; citation_doi=10.1002/ana.23937; citation_id=CR6 citation_journal_title=PloS One; citation_title=Casein kinase II induced polymerization of soluble TDP-43 into filaments is inhibited by heat shock proteins; citation_author=Y Carlomagno, Y Zhang, M Davis; citation_volume=9; citation_publication_date=2014; citation_pages=e90452; citation_doi=10.1371/journal.pone.0090452; citation_id=CR7 citation_journal_title=Front Neurol; citation_title=The disturbance of gaze in progressive supranuclear palsy: implications for pathogenesis; citation_author=AL Chen, DE Riley, SA King; citation_volume=1; citation_publication_date=2010; citation_pages=147; citation_id=CR8 citation_journal_title=Neurology; citation_title=Neurobehavioral dysfunction in ALS has a negative effect on outcome and use of PEG and NIV; citation_author=A Chio, A Ilardi, S Cammarosano; citation_volume=78; citation_publication_date=2012; citation_pages=1085-1089; citation_doi=10.1212/WNL.0b013e31824e8f53; citation_id=CR9 citation_journal_title=Hum Mol Genet; citation_title=TDP-43 Phosphorylation by casein kinase Iepsilon promotes oligomerization and enhances toxicity in vivo; citation_author=DK Choksi, B Roy, S Chatterjee; citation_volume=23; citation_publication_date=2014; citation_pages=1025-1035; citation_doi=10.1093/hmg/ddt498; citation_id=CR10 Cirulli ET, Lasseigne BN, Petrovski S et al (2015) Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347:1436–1441 citation_journal_title=Amyotroph Lateral Scler Frontotemporal Degener; citation_title=Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene; citation_author=D Czell, PM Andersen, C Neuwirth; citation_volume=14; citation_publication_date=2013; citation_pages=138-140; citation_doi=10.3109/21678421.2012.756525; citation_id=CR12 DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256 citation_journal_title=Neurology; citation_title=Nutritional status is a prognostic factor for survival in ALS patients; citation_author=JC Desport, PM Preux, TC Truong; citation_volume=53; citation_publication_date=1999; citation_pages=1059-1063; citation_doi=10.1212/WNL.53.5.1059; citation_id=CR14 Dornblüth O (1889) An anatomical investigation of a case of amyotrophic lateral sclerosis. Neur Zbl 13 citation_journal_title=Amyotroph Lateral Scler Frontotemporal Degener; citation_title=High-caloric food supplements in the treatment of amyotrophic lateral sclerosis: A prospective interventional study; citation_author=J Dorst, J Cypionka, AC Ludolph; citation_volume=14; citation_publication_date=2013; citation_pages=533-536; citation_doi=10.3109/21678421.2013.823999; citation_id=CR16 citation_journal_title=J Neurol; citation_title=Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study; citation_author=J Dorst, L Dupuis, S Petri; citation_volume=262; citation_issue=4; citation_publication_date=2015; citation_pages=849-858; citation_doi=10.1007/s00415-015-7646-2; citation_id=CR17 citation_journal_title=J Neurol; citation_title=Patients with elevated triglyceride and cholesterol serum levels have a prolonged survival in amyotrophic lateral sclerosis; citation_author=J Dorst, P Kuhnlein, C Hendrich; citation_volume=258; citation_publication_date=2011; citation_pages=613-617; citation_doi=10.1007/s00415-010-5805-z; citation_id=CR18 citation_journal_title=Neurology; citation_title=Dyslipidemia is a protective factor in amyotrophic lateral sclerosis; citation_author=L Dupuis, P Corcia, A Fergani; citation_volume=70; citation_publication_date=2008; citation_pages=1004-1009; citation_doi=10.1212/01.wnl.0000285080.70324.27; citation_id=CR19 citation_journal_title=J Neurol; citation_title=Parkinson’s disease-like midbrain hyperechogenicity is frequent in amyotrophic lateral sclerosis; citation_author=P Fathinia, A Hermann, U Reuner; citation_volume=260; citation_publication_date=2013; citation_pages=454-457; citation_doi=10.1007/s00415-012-6654-8; citation_id=CR20 citation_journal_title=Akt Neurol; citation_title=Genetik und Neurochemische Biomarker bei Amyotropher Lateralsklerose und Frontotemporaler Lobärdegeneration; citation_author=E Feneberg, A Hübers, JH Weishaupt; citation_volume=41; citation_publication_date=2014; citation_pages=239-247; citation_doi=10.1055/s-0034-1374583; citation_id=CR21 citation_journal_title=Nat Neurosci; citation_title=Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia; citation_author=A Freischmidt, T Wieland, B Richter; citation_volume=18; citation_publication_date=2015; citation_pages=631-636; citation_doi=10.1038/nn.4000; citation_id=CR22 citation_journal_title=Biol Psychiatry; citation_title=Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation; citation_author=D Galimberti, C Fenoglio, M Serpente; citation_volume=74; citation_publication_date=2013; citation_pages=384-391; citation_doi=10.1016/j.biopsych.2013.01.031; citation_id=CR23 Gitcho MA, Baloh RH, Chakraverty S et al (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63:535–538 citation_journal_title=Lancet Neurol; citation_title=Changes in cognition and behaviour in amyotrophic lateral sclerosis: nature of impairment and implications for assessment; citation_author=LH Goldstein, S Abrahams; citation_volume=12; citation_publication_date=2013; citation_pages=368-380; citation_doi=10.1016/S1474-4422(13)70026-7; citation_id=CR25 citation_journal_title=Clin Neurol; citation_title=Language disorders in ALS/FTLD; citation_author=H Ichikawa; citation_volume=50; citation_publication_date=2010; citation_pages=1014-1016; citation_id=CR26 citation_journal_title=BMJ Open; citation_title=Electrophysiological and spinal imaging evidences for sensory dysfunction in amyotrophic lateral sclerosis; citation_author=C Iglesias, S Sangari, MM Mendili; citation_volume=5; citation_publication_date=2015; citation_pages=e007659; citation_doi=10.1136/bmjopen-2015-007659; citation_id=CR27 citation_journal_title=J Neurol Sci; citation_title=Neuropathology of sporadic amyotrophic lateral sclerosis of long duration; citation_author=K Iwanaga, S Hayashi, M Oyake; citation_volume=146; citation_publication_date=1997; citation_pages=139-143; citation_doi=10.1016/S0022-510X(96)00297-3; citation_id=CR28 citation_journal_title=J Cell Biol; citation_title=Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease; citation_author=JS Ju, RA Fuentealba, SE Miller; citation_volume=187; citation_publication_date=2009; citation_pages=875-888; citation_doi=10.1083/jcb.200908115; citation_id=CR29 Kabashi E, Valdmanis PN, Dion P et al (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572–574 citation_journal_title=Brain; citation_title=Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology; citation_author=J Kassubek, HP Muller, K Tredici; citation_volume=137; citation_publication_date=2014; citation_pages=1733-1740; citation_doi=10.1093/brain/awu090; citation_id=CR31 citation_journal_title=Nat Genet; citation_title=Therapeutic modulation of eIF2alpha phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models; citation_author=HJ Kim, AR Raphael, ES Ladow; citation_volume=46; citation_publication_date=2014; citation_pages=152-160; citation_doi=10.1038/ng.2853; citation_id=CR32 citation_journal_title=Mol Cell; citation_title=The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome; citation_author=MF Kleijnen, AH Shih, P Zhou; citation_volume=6; citation_publication_date=2000; citation_pages=409-419; citation_doi=10.1016/S1097-2765(00)00040-X; citation_id=CR33 Kwiatkowski TJ Jr, Bosco DA, Leclerc AL et al (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205–1208 citation_journal_title=Arch Neurol; citation_title=Eye movements in amyotrophic lateral sclerosis; citation_author=A Leveille, J Kiernan, JA Goodwin; citation_volume=39; citation_publication_date=1982; citation_pages=684-686; citation_doi=10.1001/archneur.1982.00510230010003; citation_id=CR35 citation_journal_title=Neuron; citation_title=Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis; citation_author=SC Ling, M Polymenidou, DW Cleveland; citation_volume=79; citation_publication_date=2013; citation_pages=416-438; citation_doi=10.1016/j.neuron.2013.07.033; citation_id=CR36 citation_journal_title=Amyotroph Lateral Scler Frontotemporal Degener; citation_title=A revision of the El Escorial criteria – 2015; citation_author=A Ludolph, V Drory, O Hardiman; citation_publication_date=2015; citation_id=CR37 citation_journal_title=Amyotroph Lateral Scler Frontotemporal Degener; citation_title=The edinburgh cognitive and Behavioural Amyotrophic lateral sclerosis screen: a cross-sectional comparison of established screening tools in a German-Swiss population; citation_author=D Lule, C Burkhardt, S Abdulla; citation_volume=16; citation_publication_date=2015; citation_pages=16-23; citation_doi=10.3109/21678421.2014.959451; citation_id=CR38 citation_journal_title=J Neurol; citation_title=Emotional responding in amyotrophic lateral sclerosis; citation_author=D Lule, A Kurt, R Jurgens; citation_volume=252; citation_publication_date=2005; citation_pages=1517-1524; citation_doi=10.1007/s00415-005-0907-8; citation_id=CR39 Maruyama H, Morino H, Ito H et al (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465:223–226 citation_journal_title=Trans Am Neurol Assoc; citation_title=Amyotrophic lateral sclerosis: metabolism of central monoamines and treatment with L-dopa; citation_author=JR Mendell, TN Chase, WK Engel; citation_volume=96; citation_publication_date=1971; citation_pages=284-286; citation_id=CR41 citation_journal_title=Science; citation_title=Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis; citation_author=M Neumann, DM Sampathu, LK Kwong; citation_volume=314; citation_publication_date=2006; citation_pages=130-133; citation_doi=10.1126/science.1134108; citation_id=CR42 citation_journal_title=Amyotroph Lateral Scler; citation_title=Effect of non-invasive ventilation on survival, quality of life, respiratory function and cognition: a review of the literature; citation_author=S Piepers, JP Den Berg, S Kalmijn; citation_volume=7; citation_publication_date=2006; citation_pages=195-200; citation_doi=10.1080/14660820500514974; citation_id=CR43 citation_journal_title=Mov Disord; citation_title=Extrapyramidal stiffness in patients with amyotrophic lateral sclerosis; citation_author=PF Pradat, G Bruneteau, E Munerati; citation_volume=24; citation_publication_date=2009; citation_pages=2143-2148; citation_doi=10.1002/mds.22762; citation_id=CR44 citation_journal_title=Exp Neurol; citation_title=Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis; citation_author=J Ravits; citation_volume=262; citation_issue=Pt B; citation_publication_date=2014; citation_pages=121-126; citation_doi=10.1016/j.expneurol.2014.07.021; citation_id=CR45 Renton AE, Majounie E, Waite A et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268 Rosen DR, Siddique T, Patterson D et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62 citation_journal_title=J Neurol; citation_title=Cognitive function in bulbar- and spinal-onset amyotrophic lateral sclerosis. A longitudinal study in 52 patients; citation_author=H Schreiber, T Gaigalat, U Wiedemuth-Catrinescu; citation_volume=252; citation_publication_date=2005; citation_pages=772-781; citation_doi=10.1007/s00415-005-0739-6; citation_id=CR48 citation_journal_title=Neurotherapeutics; citation_title=TDP-43 Proteinopathy and ALS: insights into disease mechanisms and therapeutic targets; citation_author=EL Scotter, HJ Chen, CE Shaw; citation_volume=12; citation_publication_date=2015; citation_pages=352-363; citation_doi=10.1007/s13311-015-0338-x; citation_id=CR49 citation_journal_title=Ann Neurol; citation_title=Oculomotor function in amyotrophic lateral sclerosis: evidence for frontal impairment; citation_author=S Shaunak, RW Orrell, E O’sullivan; citation_volume=38; citation_publication_date=1995; citation_pages=38-44; citation_doi=10.1002/ana.410380109; citation_id=CR50 Sreedharan J, Blair IP, Tripathi VB et al (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668–1672 citation_journal_title=J Biol Chem; citation_title=TDP-43-induced death is associated with altered regulation of BIM and Bcl-xL and attenuated by caspase-mediated TDP-43 cleavage; citation_author=H Suzuki, K Lee, M Matsuoka; citation_volume=286; citation_publication_date=2011; citation_pages=13171-13183; citation_doi=10.1074/jbc.M110.197483; citation_id=CR52 citation_journal_title=J Neurol; citation_title=Small-fibre neuropathy related to bulbar and spinal-onset in patients with ALS; citation_author=A Truini, A Biasiotta, E Onesti; citation_volume=262; citation_publication_date=2015; citation_pages=1014-1018; citation_doi=10.1007/s00415-015-7672-0; citation_id=CR53 citation_journal_title=PloS One; citation_title=Incidence and geographical variation of amyotrophic lateral sclerosis (ALS) in Southern Germany – completeness of the ALS registry Swabia; citation_author=H Uenal, A Rosenbohm, J Kufeldt; citation_volume=9; citation_publication_date=2014; citation_pages=e93932; citation_doi=10.1371/journal.pone.0093932; citation_id=CR54 Vance C, Rogelj B, Hortobagyi T et al (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211 citation_journal_title=Ann Med; citation_title=The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum; citation_author=T Langenhove, J Der Zee, C Broeckhoven; citation_volume=44; citation_publication_date=2012; citation_pages=817-828; citation_doi=10.3109/07853890.2012.665471; citation_id=CR56 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43; citation_author=IF Wang, BS Guo, YC Liu; citation_volume=109; citation_publication_date=2012; citation_pages=15024-15029; citation_doi=10.1073/pnas.1206362109; citation_id=CR57 citation_journal_title=Neurology; citation_title=Small-fiber neuropathy in patients with ALS; citation_author=J Weis, I Katona, G Muller-Newen; citation_volume=76; citation_publication_date=2011; citation_pages=2024-2029; citation_doi=10.1212/WNL.0b013e31821e553a; citation_id=CR58 citation_journal_title=PloS One; citation_title=The C-terminal TDP-43 fragments have a high aggregation propensity and harm neurons by a dominant-negative mechanism; citation_author=C Yang, W Tan, C Whittle; citation_volume=5; citation_publication_date=2010; citation_pages=e15878; citation_doi=10.1371/journal.pone.0015878; citation_id=CR59 citation_journal_title=Behav Neurol; citation_title=Syntactic comprehension in patients with amyotrophic lateral sclerosis; citation_author=K Yoshizawa, N Yasuda, M Fukuda; citation_volume=2014; citation_publication_date=2014; citation_pages=230578; citation_doi=10.1155/2014/230578; citation_id=CR60