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513 results

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Page 1
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.
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
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
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: greenbaum l. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Neural correlates of subjective cognitive decline in adults at high risk for Alzheimer's disease.
Ben-Ami L, Ravona-Springer R, Tsarfaty G, Raizman R, Shumacher A, Sharvit-Ginon I, Greenbaum L, Bendlin BB, Okun E, Heymann A, Schnaider Beeri M, Livny A. Ben-Ami L, et al. Among authors: greenbaum l. Front Aging Neurosci. 2023 Feb 1;15:1067196. doi: 10.3389/fnagi.2023.1067196. eCollection 2023. Front Aging Neurosci. 2023. PMID: 36819726 Free PMC article.
Growth in children with nephrotic syndrome: a post hoc analysis of the NEPTUNE study.
Maniar A, Gipson DS, Brady T, Srivastava T, Selewski DT, Greenbaum LA, Dell KM, Kaskel F, Massengill S, Tran C, Trachtman H, Lafayette R, Almaani S, Hingorani S, Wang CS, Reidy K, Cara-Fuentes G, Gbadegesin R, Myers K, Sethna CB; Members of the Nephrotic Syndrome Study Network (NEPTUNE). Maniar A, et al. Among authors: greenbaum la. Pediatr Nephrol. 2024 Apr 26. doi: 10.1007/s00467-024-06375-9. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38671228
NIBR-LTSi is a selective LATS kinase inhibitor activating YAP signaling and expanding tissue stem cells in vitro and in vivo.
Namoto K, Baader C, Orsini V, Landshammer A, Breuer E, Dinh KT, Ungricht R, Pikiolek M, Laurent S, Lu B, Aebi A, Schönberger K, Vangrevelinghe E, Evrova O, Sun T, Annunziato S, Lachal J, Redmond E, Wang L, Wetzel K, Capodieci P, Turner J, Schutzius G, Unterreiner V, Trunzer M, Buschmann N, Behnke D, Machauer R, Scheufler C, Parker CN, Ferro M, Grevot A, Beyerbach A, Lu WY, Forbes SJ, Wagner J, Bouwmeester T, Liu J, Sohal B, Sahambi S, Greenbaum LE, Lohmann F, Hoppe P, Cong F, Sailer AW, Ruffner H, Glatthar R, Humar B, Clavien PA, Dill MT, George E, Maibaum J, Liberali P, Tchorz JS. Namoto K, et al. Among authors: greenbaum le. Cell Stem Cell. 2024 Apr 4;31(4):554-569.e17. doi: 10.1016/j.stem.2024.03.003. Cell Stem Cell. 2024. PMID: 38579685
Assessment and management of vitamin status in children with CKD stages 2-5, on dialysis and post-transplantation: clinical practice points from the Pediatric Renal Nutrition Taskforce.
Anderson CE, Tuokkola J, Qizalbash L, Harmer M, Nelms CL, Stabouli S, Toole B, Polderman N, Desloovere A, Renken-Terhaerdt J, Vega MRW, Snauwaert E, Walle JV, Haffner D, Paglialonga F, Shroff R, Shaw V, Greenbaum LA, Warady BA. Anderson CE, et al. Among authors: greenbaum la. Pediatr Nephrol. 2024 Apr 4. doi: 10.1007/s00467-024-06303-x. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38570350 Review.
513 results