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→Amyotrophic lateral sclerosis: ALS-FUS
Jensflorian (talk | contribs) (→Microscopic: SOD-1) |
Jensflorian (talk | contribs) (→Amyotrophic lateral sclerosis: ALS-FUS) |
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**SOD1-mutant cases are [[TDP-43]]-ve.<ref>{{Cite journal | last1 = Nakamura | first1 = S. | last2 = Wate | first2 = R. | last3 = Kaneko | first3 = S. | last4 = Ito | first4 = H. | last5 = Oki | first5 = M. | last6 = Tsuge | first6 = A. | last7 = Nagashima | first7 = M. | last8 = Asayama | first8 = S. | last9 = Fujita | first9 = K. | title = An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation. | journal = Neuropathology | volume = 34 | issue = 1 | pages = 58-63 | month = Feb | year = 2014 | doi = 10.1111/neup.12049 | PMID = 23773010 }}</ref> | **SOD1-mutant cases are [[TDP-43]]-ve.<ref>{{Cite journal | last1 = Nakamura | first1 = S. | last2 = Wate | first2 = R. | last3 = Kaneko | first3 = S. | last4 = Ito | first4 = H. | last5 = Oki | first5 = M. | last6 = Tsuge | first6 = A. | last7 = Nagashima | first7 = M. | last8 = Asayama | first8 = S. | last9 = Fujita | first9 = K. | title = An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation. | journal = Neuropathology | volume = 34 | issue = 1 | pages = 58-63 | month = Feb | year = 2014 | doi = 10.1111/neup.12049 | PMID = 23773010 }}</ref> | ||
*C9orf72 expansion cases: p62+ve, [[TDP-43]]-ve inclusions in the dentate gyrus, neocortex, and cerebellum.<ref>{{Cite journal | last1 = Al-Sarraj | first1 = S. | last2 = King | first2 = A. | last3 = Troakes | first3 = C. | last4 = Smith | first4 = B. | last5 = Maekawa | first5 = S. | last6 = Bodi | first6 = I. | last7 = Rogelj | first7 = B. | last8 = Al-Chalabi | first8 = A. | last9 = Hortobágyi | first9 = T. | title = p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. | journal = Acta Neuropathol | volume = 122 | issue = 6 | pages = 691-702 | month = Dec | year = 2011 | doi = 10.1007/s00401-011-0911-2 | PMID = 22101323 }}</ref> | *C9orf72 expansion cases: p62+ve, [[TDP-43]]-ve inclusions in the dentate gyrus, neocortex, and cerebellum.<ref>{{Cite journal | last1 = Al-Sarraj | first1 = S. | last2 = King | first2 = A. | last3 = Troakes | first3 = C. | last4 = Smith | first4 = B. | last5 = Maekawa | first5 = S. | last6 = Bodi | first6 = I. | last7 = Rogelj | first7 = B. | last8 = Al-Chalabi | first8 = A. | last9 = Hortobágyi | first9 = T. | title = p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. | journal = Acta Neuropathol | volume = 122 | issue = 6 | pages = 691-702 | month = Dec | year = 2011 | doi = 10.1007/s00401-011-0911-2 | PMID = 22101323 }}</ref> | ||
**FUS-mutant cases show FUS+ve, p62+ve (few) and [[TDP-43]]-ve inclusions.<ref>{{Cite journal | last1 = Vance | first1 = C. | last2 = Rogelj | first2 = B. | last3 = Hortobágyi | first3 = T. | last4 = De Vos | first4 = KJ. | last5 = Nishimura | first5 = AL. | last6 = Sreedharan | first6 = J. | last7 = Hu | first7 = X. | last8 = Smith | first8 = B. | last9 = Ruddy | first9 = D. | title = Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. | journal = Science | volume = 323 | issue = 5918 | pages = 1208-1211 | month = Feb | year = 2009 | doi = 10.1126/science.1165942 | PMID = 19251628 }}</ref> | |||
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