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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2017 | 1 |
2018 | 3 |
2019 | 2 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
J Med Genet. 2019.
PMID: 30464053
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium.
Itzep D, et al.
Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Neuropediatrics. 2018.
PMID: 30304743
Item in Clipboard
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M.
Izquierdo-Serra M, et al. Among authors: carrasco marina ml.
Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619.
Int J Mol Sci. 2018.
PMID: 29470411
Free PMC article.
Item in Clipboard
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium.
Martínez-Monseny AF, et al.
Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22.
Ann Neurol. 2019.
PMID: 30873657
Clinical Trial.
Item in Clipboard
[Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis].
Carrasco-Marina ML, Quijano-Roy S, Iglesias-Escalera G, Jorge-Blanco A, Carro-Martinez A, Gutierrez-Cruz N.
Carrasco-Marina ML, et al.
Rev Neurol. 2015 Jul 1;61(1):44-6.
Rev Neurol. 2015.
PMID: 26108908
Free article.
Spanish.
No abstract available.
Item in Clipboard
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.
de Diego V, et al.
J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0.
J Inherit Metab Dis. 2017.
PMID: 28600669
No abstract available.
Item in Clipboard
Cite
Cite