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Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Among authors: fink jk. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 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: fink jk. 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.
The hereditary spastic paraplegias.
Fink JK. Fink JK. Handb Clin Neurol. 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. Handb Clin Neurol. 2023. PMID: 37620092 Review.
The clinical spectrum of primary lateral sclerosis.
Barohn RJ, Fink JK, Heiman-Patterson T, Huey ED, Murphy J, Statland JM, Turner MR, Elman L. Barohn RJ, et al. Among authors: fink jk. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):3-10. doi: 10.1080/21678421.2020.1837178. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 33602013
Hereditary Myelopathies.
Fink JK. Fink JK. Continuum (Minneap Minn). 2021 Feb 1;27(1):185-204. doi: 10.1212/CON.0000000000000934. Continuum (Minneap Minn). 2021. PMID: 33522742 Review.
Primary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference; Mitsumoto H. Turner MR, et al. Among authors: fink jk. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. doi: 10.1136/jnnp-2019-322541. Epub 2020 Feb 6. J Neurol Neurosurg Psychiatry. 2020. PMID: 32029539 Free PMC article.
103 results