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822 results

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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Degoutin M, Angelini C, Bar C, El Khedoud WA, Barnerias C, Boulariah-Hadjou R, Estiar MA, Ewenczyk C, Gan-Or Z, Lacombe D, Lefeuvre C, Majethia P, Messaoud-Khelifi M, Narayanan DL, Rouleau GA, Suchowersky O, Shukla A, Guillaud-Bataille M, Stevanin G, Goizet C. Degoutin M, et al. Among authors: rouleau ga. Eur J Neurol. 2025 Jan;32(1):e70025. doi: 10.1111/ene.70025. Eur J Neurol. 2025. PMID: 39731306 Free PMC article.
KCNA2 mutations are rare in hereditary spastic paraplegia.
Gan-Or Z, Yoon G, Suchowersky O, Dupré N, Rouleau GA. Gan-Or Z, et al. Among authors: rouleau ga. Ann Neurol. 2017 Feb;81(2):325-326. doi: 10.1002/ana.24855. Ann Neurol. 2017. PMID: 28019661 No abstract available.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Coutelier M, et al. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. Brain. 2015. PMID: 26026163 Free PMC article.
Calpain 1 in neurodegeneration: a therapeutic target?
Gan-Or Z, Rouleau GA. Gan-Or Z, et al. Among authors: rouleau ga. Lancet Neurol. 2016 Oct;15(11):1118. doi: 10.1016/S1474-4422(16)30175-2. Lancet Neurol. 2016. PMID: 27647640 No abstract available.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Estiar MA, et al. Among authors: rouleau ga. Mov Disord. 2021 Jul;36(7):1664-1675. doi: 10.1002/mds.28528. Epub 2021 Feb 17. Mov Disord. 2021. PMID: 33598982
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Among authors: rouleau ga. Clin Genet. 2021 Jul;100(1):51-58. doi: 10.1111/cge.13955. Epub 2021 Mar 18. Clin Genet. 2021. PMID: 33713342
822 results