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Page 1
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: leboucq n. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
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. Among authors: leboucq n. 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.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M. Sabbagh Q, et al. Among authors: leboucq n. Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25. Eur J Med Genet. 2023. PMID: 36842471
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
François-Heude MC, Poulen G, Flamand Roze E, Nguyen Morel MA, Gras D, Roch-Toreilles I, Quintard A, Baroux G, Meyer P, Coubes P, Milesi C, Cambonie G, Baleine J, Sola C, Delye B, Dimopoulou E, Sanchez S, Gasnier M, Touati S, Zamora A, Pontal D, Leboucq N, Kouyoumdjian V, Lebasnier A, Sanquer S, Mariano-Goulart D, Roujeau T, Roubertie A. François-Heude MC, et al. Among authors: leboucq n. Mov Disord Clin Pract. 2023 Feb 24;10(5):811-818. doi: 10.1002/mdc3.13685. eCollection 2023 May. Mov Disord Clin Pract. 2023. PMID: 37205256 Free PMC article.
Development and Validation of a Postprocedural Model to Predict Outcome After Endovascular Treatment for Ischemic Stroke.
Chalos V, Venema E, Mulder MJHL, Roozenbeek B, Steyerberg EW, Wermer MJH, Lycklama À Nijeholt GJ, van der Worp HB, Goyal M, Campbell BCV, Muir KW, Guillemin F, Bracard S, White P, Dávalos A, Jovin TG, Hill MD, Mitchell PJ, Demchuk AM, Saver JL, van der Lugt A, Brown S, Dippel DWJ, Lingsma HF; HERMES CollaboratorsMR CLEAN Registry Investigators. Chalos V, et al. JAMA Neurol. 2023 Jul 31;80(9):940-8. doi: 10.1001/jamaneurol.2023.2392. Online ahead of print. JAMA Neurol. 2023. PMID: 37523199
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: leboucq n. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. Coste T, et al. Among authors: leboucq n. Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. doi: 10.1002/uog.26046. Ultrasound Obstet Gynecol. 2022. PMID: 35943828 Free PMC article.
83 results