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1

Saudagar, Ravindranath, and Lajri Garge. "Amyotrophic Lateral Sclerosis: An Overview." Journal of Drug Delivery and Therapeutics 9, no. 3 (2019): 613–16. http://dx.doi.org/10.22270/jddt.v9i3.2874.

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Amyotrophic Lateral Sclerosis is an adult-onset neurodegenerative disease that causes paralysis. Presently it is incurable and rapidly progressive with a survival of 4-5 years from onset. It is degeneration of upper and lower motor neurons which results in weakness and wasting of muscles in arms, legs, trunk and bulbar region. There are two types sporadic and familial amyotrophic lateral sclerosis. The age of onset of people with familial is widely reported as being about 10 years younger than for those with apparently sporadic amyotrophic lateral sclerosis. Epidemiological studies show a worl
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2

Schymick, J. C., K. Talbot, and B. J. Traynor. "Genetics of sporadic amyotrophic lateral sclerosis." Human Molecular Genetics 16, R2 (2007): R233—R242. http://dx.doi.org/10.1093/hmg/ddm215.

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3

Swerdlow, Russell H., Janice K. Parks, David S. Cassarino, et al. "Mitochondria in Sporadic Amyotrophic Lateral Sclerosis." Experimental Neurology 153, no. 1 (1998): 135–42. http://dx.doi.org/10.1006/exnr.1998.6866.

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4

Mackenzie, Ian R. A., Eileen H. Bigio, Paul G. Ince, et al. "Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis withSOD1 mutations." Annals of Neurology 61, no. 5 (2007): 427–34. http://dx.doi.org/10.1002/ana.21147.

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5

Armon, C., L. T. Kurland, J. R. Daube, and P. C. O'Brien. "Epidemiologic correlates of sporadic amyotrophic lateral sclerosis." Neurology 41, no. 7 (1991): 1077. http://dx.doi.org/10.1212/wnl.41.7.1077.

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6

Preux, P. M., Ph Couratier, F. Boutros-Toni, et al. "Survival Prediction in Sporadic Amyotrophic Lateral Sclerosis." Neuroepidemiology 15, no. 3 (1996): 153–60. http://dx.doi.org/10.1159/000109902.

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7

Lai, Shiao-Lin, Yevgeniya Abramzon, Jennifer C. Schymick, et al. "FUS mutations in sporadic amyotrophic lateral sclerosis." Neurobiology of Aging 32, no. 3 (2011): 550.e1–550.e4. http://dx.doi.org/10.1016/j.neurobiolaging.2009.12.020.

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8

Freischmidt, Axel, Kathrin Müller, Lisa Zondler, et al. "Serum microRNAs in sporadic amyotrophic lateral sclerosis." Neurobiology of Aging 36, no. 9 (2015): 2660.e15–2660.e20. http://dx.doi.org/10.1016/j.neurobiolaging.2015.06.003.

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9

Andrew, Eisen, and Krieger Charles. "Pathogenic Mechanisms in Sporadic Amyotrophic Lateral Sclerosis." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, no. 4 (1993): 286–96. http://dx.doi.org/10.1017/s0317167100048198.

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ABSTRACT:In recognition of the 100th anniversary of Charcot’s death we have reviewed possible pathogenic mechanisms in amyotrophic lateral sclerosis (ALS). Advances in the last 5 years in molecular biology and genetics have identified mutations in the cytosolic dismutase (SODI) gene in some patients with familial ALS raising the possibility that oxidative stress may be involved in the pathogenesis. An excitotoxic pathogenesis has been implicated based on elevated plasma and CSF levels of amino acids and altered contents of amino acids in the nervous system of ALS patients and changes in the nu
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10

Idrisoglu, H. A. "Sporadic Amyotrophic Lateral Sclerosis (SALS) and environment." Journal of the Neurological Sciences 333 (October 2013): e461. http://dx.doi.org/10.1016/j.jns.2013.07.1642.

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11

French, Peter W., Russell Ludowyke, and Gilles J. Guillemin. "Fungal Neurotoxins and Sporadic Amyotrophic Lateral Sclerosis." Neurotoxicity Research 35, no. 4 (2018): 969–80. http://dx.doi.org/10.1007/s12640-018-9980-5.

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12

Strong, Michael J. "Neurofilament metabolism in sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 169, no. 1-2 (1999): 170–77. http://dx.doi.org/10.1016/s0022-510x(99)00241-5.

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13

Ajroud-Driss, Senda, and Teepu Siddique. "Sporadic and hereditary amyotrophic lateral sclerosis (ALS)." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1852, no. 4 (2015): 679–84. http://dx.doi.org/10.1016/j.bbadis.2014.08.010.

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14

Takahashi, H., K. Oyanagi, E. Ohama, and F. Ikuta. "Clarke's column in sporadic amyotrophic lateral sclerosis." Acta Neuropathologica 84, no. 5 (1992): 465–70. http://dx.doi.org/10.1007/bf00304464.

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15

Souza, Paulo Victor Sgobbi de, Wladimir Bocca Vieira de Rezende Pinto, Marco Antônio Troccoli Chieia, and Acary Souza Bulle Oliveira. "Clinical and genetic basis of familial amyotrophic lateral sclerosis." Arquivos de Neuro-Psiquiatria 73, no. 12 (2015): 1026–37. http://dx.doi.org/10.1590/0004-282x20150161.

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Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role ofC9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an importa
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16

Kabashi, Edor, Jeffrey N. Agar, Michael J. Strong, and Heather D. Durham. "Impaired proteasome function in sporadic amyotrophic lateral sclerosis." Amyotrophic Lateral Sclerosis 13, no. 4 (2012): 367–71. http://dx.doi.org/10.3109/17482968.2012.686511.

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17

Abramzon, Yevgenya, Ramita Dewan, Andrea Cortese, et al. "Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 430 (November 2021): 118061. http://dx.doi.org/10.1016/j.jns.2021.118061.

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18

FINSTERER, JOSEF. "LACTATE STRESS TESTING IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS." International Journal of Neuroscience 115, no. 4 (2005): 583–91. http://dx.doi.org/10.1080/00207450590522847.

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19

Artemiadis, Artemios K., Christos Peppas, Sotiris Giannopoulos, Vasiliki Zouvelou, and Nikos Triantafyllou. "Case of Young-Onset Sporadic Amyotrophic Lateral Sclerosis." Journal of Clinical Neuromuscular Disease 17, no. 4 (2016): 220–22. http://dx.doi.org/10.1097/cnd.0000000000000107.

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20

Perrin, Hannah, Fei Fei Ding, Emily Segalia, Jean Paul Vonsattel, and Suzanne de la Monte. "Molecular abnormalities in sporadic amyotrophic lateral sclerosis (ALS)." Journal of Neuropathology and Experimental Neurology 66, no. 5 (2007): 423. http://dx.doi.org/10.1097/01.jnen.0000268994.75147.88.

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21

Westarp, M. E., P. Bartmann, J. Rössler, et al. "Antiretroviral therapy in sporadic adult amyotrophic lateral sclerosis." NeuroReport 4, no. 6 (1993): 819–22. http://dx.doi.org/10.1097/00001756-199306000-00056.

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22

Gagliardi, Stella, Emanuela Cova, Annalisa Davin, et al. "SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis." Neurobiology of Disease 39, no. 2 (2010): 198–203. http://dx.doi.org/10.1016/j.nbd.2010.04.008.

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23

Dunckley, Travis, Matthew J. Huentelman, David W. Craig, et al. "Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis." New England Journal of Medicine 357, no. 8 (2007): 775–88. http://dx.doi.org/10.1056/nejmoa070174.

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24

Bai, Guang, and Stuart A. Lipton. "Aberrant RNA Splicing in Sporadic Amyotrophic Lateral Sclerosis." Neuron 20, no. 3 (1998): 363–66. http://dx.doi.org/10.1016/s0896-6273(00)80979-4.

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25

Koyama, S., H. Sato, and T. Kato. "Copy number variations in sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 381 (October 2017): 563. http://dx.doi.org/10.1016/j.jns.2017.08.1585.

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26

van de Biezenbos, J. B. M., J. A. G. Geelen, H. H. J. Jaspar, F. J. M. Gabreëls, and W. O. Renier. "A case of sporadic juventile amyotrophic lateral sclerosis." Clinical Neurology and Neurosurgery 87, no. 3 (1985): 230. http://dx.doi.org/10.1016/0303-8467(85)90027-7.

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27

Takahashi, H., K. Oyanagi, and F. Ikuta. "The intermediolateral nucleus in sporadic amyotrophic lateral sclerosis." Acta Neuropathologica 86, no. 2 (1993): 190–92. http://dx.doi.org/10.1007/bf00334889.

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28

Sasaki, S., Y. Tsutsumi, K. Yamane, H. Sakuma, and S. Maruyama. "Sporadic amyotrophic lateral sclerosis with extensive neurological involvement." Acta Neuropathologica 84, no. 2 (1992): 211–15. http://dx.doi.org/10.1007/bf00311398.

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29

Gros-Louis, Francois, Claudia Gaspar, and Guy A. Rouleau. "Genetics of familial and sporadic amyotrophic lateral sclerosis." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1762, no. 11-12 (2006): 956–72. http://dx.doi.org/10.1016/j.bbadis.2006.01.004.

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30

Dilliott, Allison A., Catherine M. Andary, Meaghan Stoltz, Andrey A. Petropavlovskiy, Sali M. K. Farhan, and Martin L. Duennwald. "DnaJC7 in Amyotrophic Lateral Sclerosis." International Journal of Molecular Sciences 23, no. 8 (2022): 4076. http://dx.doi.org/10.3390/ijms23084076.

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Protein misfolding is a common basis of many neurodegenerative diseases including amyotrophic lateral sclerosis (ALS). Misfolded proteins, such as TDP-43, FUS, Matrin3, and SOD1, mislocalize and form the hallmark cytoplasmic and nuclear inclusions in neurons of ALS patients. Cellular protein quality control prevents protein misfolding under normal conditions and, particularly, when cells experience protein folding stress due to the fact of increased levels of reactive oxygen species, genetic mutations, or aging. Molecular chaperones can prevent protein misfolding, refold misfolded proteins, or
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31

Souza, Paulo Victor Sgobbi de, Paulo de Lima Serrano, Igor Braga Farias, et al. "Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges." Genes 15, no. 3 (2024): 311. http://dx.doi.org/10.3390/genes15030311.

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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and
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32

Navarro, Etiane, and Charles J. Golden. "A-151 Cognitive Impairment in Amyotrophic Lateral Sclerosis." Archives of Clinical Neuropsychology 36, no. 6 (2021): 1205. http://dx.doi.org/10.1093/arclin/acab062.169.

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Abstract Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease caused by degeneration of the upper and lower motor neurons. This literature review examines the recurring etiology of cognitive impairments in ALS through empirical literature. The current study explores ALS across different subtypes and potential cognitive impairments. Two classifications are primarily examined ALS, and ALS with frontotemporal dementia (ALS-FTD). Involving three categories: familial inheritance pattern, genetic mutation, or sporadic. Neuropsychological studies affirm cognitive i
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33

Sinanović, Osman, Muhamed Lepuzanović, and Edin Bašagić. "PHYSICAL ACTIVITY AND AMYOTROPHIC LATERAL SCLEROSIS." Medicina Academica Integrativa 1, no. 1 (2024): 34–41. http://dx.doi.org/10.47960/3029-3316.2024.1.1.34.

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Motor neuron diseases (MNDs) are a group of relatively rare, progressive neurodegenerative conditions (with amyotrophic lateral sclerosis/ALS being the most common) characterized by degeneration of upper and lower motor neurons leading to motor and extra motor symptoms. The etiology of MND is believed to involve complex interactions of environmental, lifestyle, and genetic factors, but so far only a few convincing risk factors have been established. Several putative risk factors associated with sporadic cases have been suggested, including repetitive blows to the head and traumatic brain injur
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34

Bradley, Walter G., and Paul Alan Cox. "Beyond Guam: Cyanobacteria, BMAA and sporadic amyotrophic lateral sclerosis." Amyotrophic Lateral Sclerosis 10, sup2 (2009): 5–6. http://dx.doi.org/10.3109/17482960903268676.

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35

Shang, Hui-Fang, Qian-Qian Wei, Yan-Bing Hou, et al. "Neutrophil-to-lymphocyte ratio in sporadic amyotrophic lateral sclerosis." Neural Regeneration Research 17, no. 4 (2022): 875. http://dx.doi.org/10.4103/1673-5374.322476.

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36

Talbot, K. "Familial versus sporadic amyotrophic lateral sclerosis--a false dichotomy?" Brain 134, no. 12 (2011): 3429–34. http://dx.doi.org/10.1093/brain/awr296.

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37

Varghese, Anu, Aparna Sharma, Poojashree Mishra, et al. "Chitotriosidase - a putative biomarker for sporadic amyotrophic lateral sclerosis." Clinical Proteomics 10, no. 1 (2013): 19. http://dx.doi.org/10.1186/1559-0275-10-19.

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38

Bannwarth, Sylvie, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al. "Reply:CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis." Brain 138, no. 8 (2015): e373-e373. http://dx.doi.org/10.1093/brain/awu385.

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39

Daoud, H., P. N. Valdmanis, E. Kabashi, et al. "Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis." Journal of Medical Genetics 46, no. 2 (2008): 112–14. http://dx.doi.org/10.1136/jmg.2008.062463.

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40

Corrado, L., R. Del Bo, B. Castellotti, et al. "Mutations of FUS gene in sporadic amyotrophic lateral sclerosis." Journal of Medical Genetics 47, no. 3 (2009): 190–94. http://dx.doi.org/10.1136/jmg.2009.071027.

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41

van Blitterswijk, Marka, Paul W. J. van Vught, Michael A. van Es, et al. "Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients." Neurobiology of Aging 33, no. 5 (2012): 1016.e1–1016.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2011.05.019.

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42

Koppers, Max, Marka M. van Blitterswijk, Lotte Vlam, et al. "VCP mutations in familial and sporadic amyotrophic lateral sclerosis." Neurobiology of Aging 33, no. 4 (2012): 837.e7–837.e13. http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.006.

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43

Hideyama, Takuto, Takenari Yamashita, Takeshi Suzuki, et al. "RNA editing enzyme abnormality in sporadic amyotrophic lateral sclerosis." Neuroscience Research 68 (January 2010): e28-e29. http://dx.doi.org/10.1016/j.neures.2010.07.366.

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44

Iwanaga, Keisuke, Shintaro Hayashi, Mutsuo Oyake, et al. "Neuropathology of sporadic amyotrophic lateral sclerosis of long duration." Journal of the Neurological Sciences 146, no. 2 (1997): 139–43. http://dx.doi.org/10.1016/s0022-510x(96)00297-3.

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45

Vermylen, P., W. Verborgh, P. Theys, G. Matthijs, J. J. Cassiman, and W. Robberecht. "ApoE and SMN genotypes in sporadic amyotrophic lateral sclerosis." Clinical Neurology and Neurosurgery 98, no. 4 (1996): 318–19. http://dx.doi.org/10.1016/0303-8467(96)83711-5.

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46

Braak, H., M. Neumann, A. Ludolph, and K. Del Tredici. "Does Sporadic Amyotrophic Lateral Sclerosis Spread via Axonal Connectivities?" Neurology International Open 01, no. 03 (2017): E136—E141. http://dx.doi.org/10.1055/s-0043-111375.

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AbstractThe pathological process underlying sporadic amyotrophic lateral sclerosis (sALS) that is associated with the formation of cytoplasmic inclusions of a nuclear protein (TDP-43) is confined to only a few types of long-axoned projection neurons. The giant Betz pyramidal cells of the primary motor neocortex as well as large α-motor neurons of the lower brainstem and spinal cord become involved early. In the human brain, these 2 neuronal types are to a large extent interconnected by monosynaptic axonal projections. The cell nuclei of affected neurons gradually forfeit their normal expressio
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47

Onozato, T., A. Nakahara, E. Suzuki-Kouyama, et al. "Axonal TDP-43 aggregates in sporadic amyotrophic lateral sclerosis." Neuropathology and Applied Neurobiology 42, no. 6 (2016): 561–72. http://dx.doi.org/10.1111/nan.12310.

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48

Fecto, Faisal. "SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis." Archives of Neurology 68, no. 11 (2011): 1440. http://dx.doi.org/10.1001/archneurol.2011.250.

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49

Rademakers, Rosa, Heather Stewart, Mariely Dejesus-Hernandez, et al. "Fusgene mutations in familial and sporadic amyotrophic lateral sclerosis." Muscle & Nerve 42, no. 2 (2010): 170–76. http://dx.doi.org/10.1002/mus.21665.

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50

Orell, Richard W., James Habgood, Petter Rudge, Russell J. M. Lane, and Jackie S. de Belleroche. "Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis." Annals of Neurology 39, no. 6 (1996): 810–12. http://dx.doi.org/10.1002/ana.410390620.

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