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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2014 1
2015 5
2016 6
2017 10
2018 9
2019 5
2020 2
2021 3
2022 3
2023 4
2024 4

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44 results

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Page 1
NGLY1 mutations cause protein aggregation in human neurons.
Manole A, Wong T, Rhee A, Novak S, Chin SM, Tsimring K, Paucar A, Williams A, Newmeyer TF, Schafer ST, Rosh I, Kaushik S, Hoffman R, Chen S, Wang G, Snyder M, Cuervo AM, Andrade L, Manor U, Lee K, Jones JR, Stern S, Marchetto MC, Gage FH. Manole A, et al. Cell Rep. 2023 Dec 26;42(12):113466. doi: 10.1016/j.celrep.2023.113466. Epub 2023 Nov 30. Cell Rep. 2023. PMID: 38039131 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: manole a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson's disease patients.
Stern S, Lau S, Manole A, Rosh I, Percia MM, Ben Ezer R, Shokhirev MN, Qiu F, Schafer S, Mansour AA, Mangan KP, Stern T, Ofer P, Stern Y, Diniz Mendes AP, Djamus J, Moore LR, Nayak R, Laufer SH, Aicher A, Rhee A, Wong TL, Nguyen T, Linker SB, Winner B, Freitas BC, Jones E, Sagi I, Bardy C, Brice A, Winkler J, Marchetto MC, Gage FH. Stern S, et al. Among authors: manole a. NPJ Parkinsons Dis. 2022 Aug 10;8(1):103. doi: 10.1038/s41531-022-00366-z. NPJ Parkinsons Dis. 2022. PMID: 35948563 Free PMC article.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Weixler L, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG. Ghosh SG, et al. Among authors: manole a. Am J Hum Genet. 2021 Dec 2;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013. Am J Hum Genet. 2021. PMID: 34861176 Free PMC article. No abstract available.
Riboflavin Transporter Deficiency.
Cali E, Dominik N, Manole A, Houlden H. Cali E, et al. Among authors: manole a. 2015 Jun 11 [updated 2021 Apr 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Jun 11 [updated 2021 Apr 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26072523 Free Books & Documents. Review.
44 results