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

Year Number of Results
1989 1
2007 1
2011 1
2012 3
2013 3
2014 3
2015 2
2016 1
2017 1
2018 1
2019 2
2020 5
2021 6
2022 6
2023 2
2024 0

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29 results

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Page 1
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: gonzalez gutierrez solana l. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: gonzalez gutierrez solana l. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Among authors: gonzalez gutierrez solana l. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].
Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP). Pérez-López J, et al. Among authors: gonzalez gutierrez solana l. Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Med Clin (Barc). 2016. PMID: 27816186 Spanish.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: gonzalez gutierrez solana l. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.
Cantarín-Extremera V, Jiménez-Legido M, Aguilera-Albesa S, Hedrera-Fernández A, Arrabal-Fernández L, Gorría-Redondo N, Martí-Carrera I, Yoldi-Pedtri ME, Sagaseta-De Ilúrdoz M, González-Gutiérrez-Solana L. Cantarín-Extremera V, et al. Among authors: gonzalez gutierrez solana l. Neurologia (Engl Ed). 2023 Mar;38(2):93-105. doi: 10.1016/j.nrleng.2020.04.030. Epub 2022 Nov 15. Neurologia (Engl Ed). 2023. PMID: 36396095 Free article.
29 results