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Page 1
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.
McAdam A, Ito YA, Richard M, Spiegelman D, Rochefort D, Xiong L, Oskoui M, Zielinski D, Rouleau GA, Zhou S; Care4Rare Canada Consortium; Boykott KM, De Bie I. McAdam A, et al. Among authors: spiegelman d. Am J Med Genet A. 2024 Dec 23:e63974. doi: 10.1002/ajmg.a.63974. Online ahead of print. Am J Med Genet A. 2024. PMID: 39713852
Correction: The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Among authors: spiegelman d. Mol Neurodegener. 2024 Dec 18;19(1):94. doi: 10.1186/s13024-024-00791-z. Mol Neurodegener. 2024. PMID: 39696367 Free PMC article. No abstract available.
Socio-economic factors associated with cancer stigma among apparently healthy women in two selected municipalities Nepal.
Paneru B, Karmacharya A, Makaju S, Kafle D, Poudel L, Mali S, Timsina P, Shrestha N, Timalsena D, Chaudhary K, Bhandari N, Rai P, Shakya S, Spiegelman D, Sheth SS, Stangl A, Eastment MC, Shrestha A. Paneru B, et al. Among authors: spiegelman d. PLoS One. 2024 Dec 16;19(12):e0301059. doi: 10.1371/journal.pone.0301059. eCollection 2024. PLoS One. 2024. PMID: 39680514 Free PMC article.
Barriers and Facilitators to Patient Utilization of Non-Communicable Disease Services in Primary Healthcare Facilities in Nepal: A Qualitative Study.
Mali S, Rhodes EC, Nakarmi CS, Shrestha S, Dhakal A, Bharati A, Bishwokarma A, Adhikari A, Poudel B, Rai BK, Manandhar S, Kc S, Timalsena D, Silwal S, Dhimal M, Baral PP, Teufel F, Bhattarai S, Spiegelman D, Shrestha A. Mali S, et al. Among authors: spiegelman d. Res Sq [Preprint]. 2024 Nov 15:rs.3.rs-5324989. doi: 10.21203/rs.3.rs-5324989/v1. Res Sq. 2024. PMID: 39606468 Free PMC article. Preprint.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Among authors: spiegelman d. Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9. Mol Neurodegener. 2024. PMID: 39587654 Free PMC article.
Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?
Senkevich K, Parlar SC, Chantereault C, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: spiegelman d. NPJ Parkinsons Dis. 2024 Oct 25;10(1):201. doi: 10.1038/s41531-024-00809-9. NPJ Parkinsons Dis. 2024. PMID: 39455605 Free PMC article.
854 results