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

Year Number of Results
1993 1
2002 7
2003 3
2004 6
2005 4
2006 5
2007 7
2008 8
2009 9
2010 18
2011 13
2012 10
2013 17
2014 19
2015 19
2016 18
2017 33
2018 22
2019 29
2020 25
2021 31
2022 33
2023 28
2024 7

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314 results

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Page 1
LAMA2 Muscular Dystrophy.
Oliveira J, Parente Freixo J, Santos M, Coelho T. Oliveira J, et al. 2012 Jun 7 [updated 2020 Sep 17]. 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. 2012 Jun 7 [updated 2020 Sep 17]. 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: 22675738 Free Books & Documents. Review.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: oliveira jma. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: oliveira j. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Malaquias MJ, Braz L, Santos Silva C, Damásio J, Jorge A, Lemos JM, Campos CF, Garcez D, Oliveira Santos M, Velon AG, Caetano A, Calejo M, Fernandes P, Rego Â, Castro S, Sousa AP, Cardoso MN, Fernandes M, Pinto MM, Taipa R, Lopes AM, Oliveira J, Magalhães M; for RFC1 Repeat Expansion National Study Group. Malaquias MJ, et al. Among authors: oliveira j. Neurol Clin Pract. 2023 Oct;13(5):e200190. doi: 10.1212/CPJ.0000000000200190. Epub 2023 Sep 5. Neurol Clin Pract. 2023. PMID: 37674869
Targeting the proteostasis network in Huntington's disease.
Soares TR, Reis SD, Pinho BR, Duchen MR, Oliveira JMA. Soares TR, et al. Among authors: oliveira jma. Ageing Res Rev. 2019 Jan;49:92-103. doi: 10.1016/j.arr.2018.11.006. Epub 2018 Nov 28. Ageing Res Rev. 2019. PMID: 30502498 Free PMC article. Review.
Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.
Quelhas P, Jacinto J, Cerski C, Oliveira R, Oliveira J, Carvalho E, Dos Santos J. Quelhas P, et al. Among authors: oliveira j. Healthcare (Basel). 2022 Oct 12;10(10):2012. doi: 10.3390/healthcare10102012. Healthcare (Basel). 2022. PMID: 36292464 Free PMC article. Review.
314 results