Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2002 2
2004 2
2005 4
2006 3
2007 4
2008 2
2009 3
2010 20
2011 7
2012 4
2013 12
2014 8
2015 5
2016 10
2017 3
2018 7
2019 3
2020 9
2021 10
2022 9
2023 7
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

124 results

Results by year

Filters applied: . Clear all
Page 1
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C. Esteve-Garcia A, et al. Among authors: millan jm. Front Genet. 2024 Feb 21;15:1352063. doi: 10.3389/fgene.2024.1352063. eCollection 2024. Front Genet. 2024. PMID: 38450199 Free PMC article.
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins BD, Lobo GP, Kondkar AA, Millan JM. Perkins BD, et al. Among authors: millan jm. Front Cell Dev Biol. 2023 Oct 4;11:1301279. doi: 10.3389/fcell.2023.1301279. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37860821 Free PMC article. No abstract available.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: millan jm. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Muelas N, Sivera R, Sopena-Novales P, Martínez-Sanchis B, Sastre-Bataller I, Campins-Romeu M, Martínez-Torres I, García-Verdugo JM, Millán JM, Jaijo T, Aller E, Bataller L. Baviera-Muñoz R, et al. Among authors: millan jm. Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332636 Free PMC article.
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gómez-Escribano AP, Mora-Martínez C, Roca M, Walker DS, Panadero J, Sequedo MD, Saini R, Knölker HJ, Blanca J, Burguera J, Lahoz A, Cañizares J, Millán JM, Burton NO, Schafer WR, Vázquez-Manrique RP. Gómez-Escribano AP, et al. Among authors: millan jm. EMBO Rep. 2023 Jun 5;24(6):e55556. doi: 10.15252/embr.202255556. Epub 2023 Apr 27. EMBO Rep. 2023. PMID: 37103980 Free PMC article.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: millan jm. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC, Cerrada V, Moreno-Izquierdo A, García-Consuegra I, Laberthonnière C, Delourme M, Garesse R, Arenas J, Fuster García C, García García G, Millán JM, Magdinier F, Gallardo ME. Ortuño-Costela MDC, et al. Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964. Int J Mol Sci. 2022. PMID: 36430443 Free PMC article.
124 results