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Page 1
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. Chettle J, et al. Among authors: greenbaum l. HGG Adv. 2024 Oct 10;5(4):100345. doi: 10.1016/j.xhgg.2024.100345. Epub 2024 Aug 30. HGG Adv. 2024. PMID: 39182167 Free PMC article.
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Anis S, Fay-Karmon T, Lassman S, Shbat F, Lesman-Segev O, Mor N, Barel O, Dominissini D, Chorin O, Pras E, Greenbaum L, Hassin-Baer S. Anis S, et al. Among authors: greenbaum l. Neurogenetics. 2023 Oct;24(4):303-310. doi: 10.1007/s10048-023-00732-w. Epub 2023 Sep 2. Neurogenetics. 2023. PMID: 37658208
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: greenbaum l. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.
Lempel N, Shelly S, Chorin O, Rock R, Eliyahu A, Finezilber Y, Poran H, Feinstein-Goren N, Segev M, Reznik-Wolf H, Barel O, Orion D, Anis S, Regev M, Yonath H, Dominissini D, Blatt I, Hassin-Baer S, Dori A, Pras E, Greenbaum L. Lempel N, et al. Among authors: greenbaum l. J Neurol Sci. 2024 Aug 15;463:123074. doi: 10.1016/j.jns.2024.123074. Epub 2024 May 31. J Neurol Sci. 2024. PMID: 38968664
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: greenbaum l. 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.
Association of rare variants in ARSA with Parkinson's disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: greenbaum l. medRxiv [Preprint]. 2023 Mar 13:2023.03.08.23286773. doi: 10.1101/2023.03.08.23286773. medRxiv. 2023. Update in: Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521 PMID: 36993451 Free PMC article. Updated. Preprint.
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: greenbaum l. medRxiv [Preprint]. 2024 Jun 1:2024.05.29.24307986. doi: 10.1101/2024.05.29.24307986. medRxiv. 2024. Update in: NPJ Parkinsons Dis. 2024 Oct 25;10(1):201. doi: 10.1038/s41531-024-00809-9 PMID: 38853950 Free PMC article. Updated. Preprint.
Association of Rare Variants in ARSA with Parkinson's Disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: greenbaum l. Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. Epub 2023 Jun 28. Mov Disord. 2023. PMID: 37381728 Free PMC article.
Levodopa-carbidopa intestinal gel for advanced Parkinson's disease: Impact of LRRK2 and GBA1 mutations.
Thaler A, Anis S, Ponger P, Fay-Karmon T, Livneh V, Faust-Socher A, Greenbaum L, Reiner J, Hilel A, Shabtai H, Alcalay RN, Djaldetti R, Hassin-Baer S, Ezra A, Mirelman A, Giladi N, Gurevich T. Thaler A, et al. Among authors: greenbaum l. Parkinsonism Relat Disord. 2024 Oct;127:107115. doi: 10.1016/j.parkreldis.2024.107115. Epub 2024 Aug 28. Parkinsonism Relat Disord. 2024. PMID: 39208588
534 results