Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM and Coleman MP. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife. 2021. PubMed, Preprint
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Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Estiar MA, Lail N, Dyment DA, Varghaei P, Hartley T, Gillespie MK, Yoon G, Boycott KM, Rouleau GA and Gan-Or Z. Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia. Annals of Neurology. 2021. PubMed
Brain atrophy progression in Parkinson’s disease is shaped by connectivity and local vulnerability.
New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin.
Senkevich K, Rudakou U and Gan-Or Z. New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin. Neuropharmacology. 2021. PubMed
Plasma glucosylsphingosine in glucocerebrosidase carriers with and without Parkinson disease.
Surface M, Balwani M, Waters CH, Haimovich A, Gan-Or Z, Marder KS, Hsieh T, Song L, Padmanabhan S, Hsieh F, Merchant KM and Alcalay RN. Plasma glucosylsphingosine in glucocerebrosidase carriers with and without Parkinson disease. Movement Disorders. 2021. PubMed
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Suchowersky O, Ashtiani S, Au PYB, McLeod S, Estiar MA, Gan-Or Z and Rouleau GA. Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clinical Parkinsonism & Related Disorders. 2021. PubMed
Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder.
Sosero YL, Yu E, Estiar MA, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Ibrahim A, Stefani A, Högl B, Hu MTM, and Gan-Or Z. Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. Journal of Parkinson’s Disease. 2021. PubMed, Preprint
Genetic stratification of age-dependent Parkinson’s disease risk by polygenic hazard score.
Pihlstrøm L, Fan CC, Frei O, Tan M, Blauwendraat C, Bandres-Ciga S, Gan-Or Z, Grosset DG, International Parkinson’s Disease Genomics Consortium (IPDGC), Dale AM, Seibert TM and Andreassen OA. Genetic stratification of age-dependent Parkinson’s disease risk by polygenic hazard score. Movement Disorders. 2021. PubMed
Coding and non-coding variation in LRRK2 and Parkinson’s Disease Risk.
Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach.
Visanji NP, Ghani M, Yu E, Kakhki EG, Sato C, Moreno D, Naranian T, Poon YY, Abdollahi M, Naghibzadeh M, Rajalingam R, Lozano AM, Kalia SK, Hodaie M, Cohn M, Statucka M, Boutet A, Elias GJB, Germann J, Munhoz R, Lang AE, Gan-Or Z, Rogaeva E and Fasano A. Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach. Journal of Parkinson’s disease. 2021. PubMed