Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

44 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
"Leukodystrophy-Like" Phenotype in Anti-MOG Antibody-Associated Disorders.
Ortiz de Zarate Z, Felipe-Rucián A, Sánchez-Montáñez Á, Armangué T, Gómez-Andrés D. Ortiz de Zarate Z, et al. Neuropediatrics. 2022 Apr;53(2):147-148. doi: 10.1055/a-1740-9649. Epub 2022 Mar 8. Neuropediatrics. 2022. PMID: 35030636 No abstract available.
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. Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18. Muscle Nerve. 2018. PMID: 30066418 Free article.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
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. Köhler S, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105. Nucleic Acids Res. 2019. PMID: 30476213 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
44 results