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Page 1
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: blackstone c. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: blackstone c. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC. Hirst J, et al. Among authors: blackstone c. Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27606357 Free PMC article.
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. Renvoisé B, et al. Among authors: blackstone c. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. doi: 10.1002/acn3.64. Ann Clin Transl Neurol. 2014. PMID: 24999486 Free PMC article.
161 results