Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Genetic diagnosis of basal ganglia disease in childhood.
Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Dev Med Child Neurol. 2022.
PMID: 34988976
Free article.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B.
Baide-Mairena H, et al.
Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5.
Mol Genet Metab. 2019.
PMID: 30642748
Review.
Item in Clipboard
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B.
Marcé-Grau A, et al. Among authors: baide mairena h.
J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24.
J Inherit Metab Dis. 2019.
PMID: 31095747
Review.
Item in Clipboard
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: baide mairena h.
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
Item in Clipboard
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B.
Vanegas MI, et al. Among authors: baide mairena h.
Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21.
Parkinsonism Relat Disord. 2020.
PMID: 33022436
Item in Clipboard
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Masnada S, Martinelli D, Correa-Vela M, Agolini E, Baide-Mairena H, Marcé-Grau A, Parazzini C, Veggiotti P, Perez-Duenas B, Tonduti D.
Masnada S, et al. Among authors: baide mairena h.
Mov Disord. 2021 Apr;36(4):1038-1040. doi: 10.1002/mds.28492. Epub 2021 Feb 19.
Mov Disord. 2021.
PMID: 33606314
No abstract available.
Item in Clipboard
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Baide-Mairena H, Coget A, Leboucq N, Procaccio V, Blanluet M, Meyer P, Malinge MC, François-Heude MC, Moreno M, Geneviève D, Marelli C, Roubertie A.
Baide-Mairena H, et al.
Ann Clin Transl Neurol. 2023 Oct;10(10):1937-1943. doi: 10.1002/acn3.51858. Epub 2023 Jul 25.
Ann Clin Transl Neurol. 2023.
PMID: 37491839
Free PMC article.
Item in Clipboard
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sánchez L, Baide-Mairena H, Pérez-Dueñas B, Gil-Campos M.
Pata S, et al. Among authors: baide mairena h.
Orphanet J Rare Dis. 2022 Sep 5;17(1):340. doi: 10.1186/s13023-022-02468-6.
Orphanet J Rare Dis. 2022.
PMID: 36064416
Free PMC article.
Item in Clipboard
Cite
Cite