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Items: 11

1.

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA.

Muscle Nerve. 2019 Apr;59(4):436-444. doi: 10.1002/mus.26403. Epub 2019 Jan 10.

PMID:
30578674
2.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

3.

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.

Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.

PMID:
30066418
4.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
5.

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.

Pulido-Valdeolivas I, Gómez-Andrés D, Martín-Gonzalo JA, Rodríguez-Andonaegui I, López-López J, Pascual-Pascual SI, Rausell E.

PLoS One. 2018 Mar 8;13(3):e0192345. doi: 10.1371/journal.pone.0192345. eCollection 2018.

6.

Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit.

Pulido-Valdeolivas I, Gómez-Andrés D, Sanz-Gallego I, Rausell E, Arpa J.

Cerebellum Ataxias. 2016 Feb 23;3:4. doi: 10.1186/s40673-016-0042-6. eCollection 2016.

7.

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Gómez-Andrés D, Dabaj I, Mompoint D, Hankiewicz K, Azzi V, Ioos C, Romero NB, Ben Yaou R, Bergounioux J, Bonne G, Richard P, Estournet B, Yves-Carlier R, Quijano-Roy S.

Muscle Nerve. 2016 Aug;54(2):192-202. doi: 10.1002/mus.25018. Epub 2016 Feb 22.

PMID:
26670690
8.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I.

Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22.

PMID:
26573435
9.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
10.

Abnormal motor phenotype at adult stages in mice lacking type 2 deiodinase.

Bárez-López S, Bosch-García D, Gómez-Andrés D, Pulido-Valdeolivas I, Montero-Pedrazuela A, Obregon MJ, Guadaño-Ferraz A.

PLoS One. 2014 Aug 1;9(8):e103857. doi: 10.1371/journal.pone.0103857. eCollection 2014.

11.

[External evaluation of gait and functional changes after a single-session multiple myofibrotenotomy in school-aged children with spastic diplegia].

Gómez-Andrés D, Pulido-Valdeolivas I, Martín-Gonzalo JA, López-López J, Martínez-Caballero I, Gómez-Barrena E, Rausell E.

Rev Neurol. 2014 Mar 16;58(6):247-54. Spanish.

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