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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.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Among authors: blackstone c. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
Vander Stichele G, Durr A, Yoon G, Schüle R, Blackstone C, Esposito G, Buffel C, Oliveira I, Freitag C, van Rooijen S, Hoffmann S, Thielemans L, Cowling BS. Vander Stichele G, et al. Among authors: blackstone c. BMC Neurol. 2022 Mar 24;22(1):115. doi: 10.1186/s12883-022-02595-4. BMC Neurol. 2022. PMID: 35331153 Free PMC article.
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH. Rinaldi C, et al. Among authors: blackstone c. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. JAMA Neurol. 2015. PMID: 25751282 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.
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.
160 results