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

123 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
[The Schwartz-Jampel syndrome].
Urtizberea JA, Severa G, Ropars J, Malfatti E. Urtizberea JA, et al. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:37-46. doi: 10.1051/medsci/2023133. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975769 French.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: urtizberea ja. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Vezain M, et al. Among authors: urtizberea ja. Hum Genet. 2023 Jan;142(1):125-138. doi: 10.1007/s00439-022-02473-6. Epub 2022 Sep 23. Hum Genet. 2023. PMID: 36138164
STAC3 related congenital myopathy: A case series of seven Comorian patients.
Gromand M, Gueguen P, Pervillé A, Ferroul F, Morel G, Harouna A, Doray B, Urtizberea JA, Alessandri JL, Robin S. Gromand M, et al. Among authors: urtizberea ja. Eur J Med Genet. 2022 Oct;65(10):104598. doi: 10.1016/j.ejmg.2022.104598. Epub 2022 Aug 25. Eur J Med Genet. 2022. PMID: 36030003
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Cerino M, et al. Among authors: urtizberea ja. Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076. Genes (Basel). 2022. PMID: 35741838 Free PMC article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
123 results