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Year Number of Results
2015 1
2016 3
2017 3
2018 2
2019 1
2020 5
2022 3
2023 1
2024 0

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18 results

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Page 1
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Among authors: de munain al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: de munain al. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.
Jansen IE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Küçükali F, Sung YJ, Tesí N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, Carracedo Á, Cervera-Carles L, Chene G, Claassen JAHR, Debette S, Deleuze JF, de Deyn PP, Diehl-Schmid J, Djurovic S, Dols-Icardo O, Dufouil C, Duron E, Düzel E; EADB consortium; Fladby T, Fortea J, Frölich L, García-González P, Garcia-Martinez M, Giegling I, Goldhardt O, Gobom J, Grimmer T, Haapasalo A, Hampel H, Hanon O, Hausner L, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herukka SK, Holstege H, Jarholm J, Kern S, Knapskog AB, Koivisto AM, Kornhuber J, Kuulasmaa T, Lage C, Laske C, Leinonen V, Lewczuk P, Lleó A, de Munain AL, Lopez-Garcia S, Maier W, Marquié M, Mol MO, Montrreal L, Moreno F, Moreno-Grau S, Nicolas G, Nöthen MM, Orellana A, Pålhaugen L, Papma JM, Pasquier F, Perneczky R, Peters O, Pijnenburg YAL, Popp J, Posthuma D, Pozueta A, Priller J, Puerta R, Quintela I, Ramaker… See abstract for full author list ➔ Jansen IE, et al. Among authors: de munain al. Acta Neuropathol. 2022 Nov;144(5):821-842. doi: 10.1007/s00401-022-02454-z. Epub 2022 Sep 6. Acta Neuropathol. 2022. PMID: 36066633 Free PMC article.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: munain al. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: de munain al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Incidence of myeloid neoplasms in Spain (2002-2013): a population-based study of the Spanish network of cancer registries.
Solans M, Sanvisens A, Ameijide A, Merino S, Rojas D, Alemán A, Banqueri E, Chico M, Marcos AI, de Castro V, Gil L, de Munain AL, Puigdemont M, Sánchez MJ, Perucha J, Ruiz-Armengol P, Chirlaque MD, Guevara M, Carulla M, Marcos-Gragera R. Solans M, et al. Among authors: de munain al. Sci Rep. 2022 Jan 10;12(1):323. doi: 10.1038/s41598-021-03734-6. Sci Rep. 2022. PMID: 35013373 Free PMC article.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: de munain al. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Kynurenic Acid Levels are Increased in the CSF of Alzheimer's Disease Patients.
González-Sánchez M, Jiménez J, Narváez A, Antequera D, Llamas-Velasco S, Martín AH, Arjona JAM, Munain AL, Bisa AL, Marco MP, Rodríguez-Núñez M, Pérez-Martínez DA, Villarejo-Galende A, Bartolome F, Domínguez E, Carro E. González-Sánchez M, et al. Among authors: munain al. Biomolecules. 2020 Apr 8;10(4):571. doi: 10.3390/biom10040571. Biomolecules. 2020. PMID: 32276479 Free PMC article.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S. GóMez-Andrés D, et al. Among authors: de munain al. Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18. Muscle Nerve. 2018. PMID: 30066418 Free article.
18 results