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Items: 14

1.

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.

Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium.

Neurology. 2019 Sep 3;93(10):e995-e1009. doi: 10.1212/WNL.0000000000008056. Epub 2019 Aug 8.

PMID:
31395669
2.

Disease burden of myotonic dystrophy type 1.

Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmüller H.

J Neurol. 2019 Apr;266(4):998-1006. doi: 10.1007/s00415-019-09228-w. Epub 2019 Feb 20.

3.

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.

Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H.

Patient. 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y. Review.

4.

Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.

Martin-Montalvo A, López-Noriega L, Jiménez-Moreno C, Herranz A, Lorenzo PI, Cobo-Vuilleumier N, Tamayo A, González-Guerrero C, Hofsteede JSWR, Lebreton F, Bosco D, García Toscano M, Herranz L, Anselmo J, Moreno JC, Gauthier BR.

Diabetes. 2019 Jan;68(1):109-118. doi: 10.2337/db18-0285. Epub 2018 Oct 23.

5.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, de Groot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J.

J Inherit Metab Dis. 2018 Nov;41(6):1267-1273. doi: 10.1007/s10545-018-0229-5. Epub 2018 Jul 19.

6.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.

Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.

Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

PMID:
29934199
7.

The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects β-cells against stress-induced apoptosis.

Baquié M, St-Onge L, Kerr-Conte J, Cobo-Vuilleumier N, Lorenzo PI, Jimenez Moreno CM, Cederroth CR, Nef S, Borot S, Bosco D, Wang H, Marchetti P, Pattou F, Wollheim CB, Gauthier BR.

Hum Mol Genet. 2018 Jan 15;27(2):406. doi: 10.1093/hmg/ddx402. No abstract available.

PMID:
29186426
8.

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).

DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmüller H.

J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6.

9.

PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus.

Mellado-Gil JM, Jiménez-Moreno CM, Martin-Montalvo A, Alvarez-Mercado AI, Fuente-Martin E, Cobo-Vuilleumier N, Lorenzo PI, Bru-Tari E, Herrera-Gómez Ide G, López-Noriega L, Pérez-Florido J, Santoyo-López J, Spyrantis A, Meda P, Boehm BO, Quesada I, Gauthier BR.

Diabetologia. 2016 Apr;59(4):755-65. doi: 10.1007/s00125-016-3864-0. Epub 2016 Jan 26.

10.

PAX4 Defines an Expandable β-Cell Subpopulation in the Adult Pancreatic Islet.

Lorenzo PI, Fuente-Martín E, Brun T, Cobo-Vuilleumier N, Jimenez-Moreno CM, G Herrera Gomez I, López Noriega L, Mellado-Gil JM, Martin-Montalvo A, Soria B, Gauthier BR.

Sci Rep. 2015 Oct 27;5:15672. doi: 10.1038/srep15672.

11.

A Simple High Efficiency Intra-Islet Transduction Protocol Using Lentiviral Vectors.

Jimenez-Moreno CM, Herrera-Gomez IG, Lopez-Noriega L, Lorenzo PI, Cobo-Vuilleumier N, Fuente-Martin E, Mellado-Gil JM, Parnaud G, Bosco D, Gauthier BR, Martin-Montalvo A.

Curr Gene Ther. 2015;15(4):436-46.

12.

Immunohistochemical assessment of Pax8 expression during pancreatic islet development and in human neuroendocrine tumors.

Lorenzo PI, Jimenez Moreno CM, Delgado I, Cobo-Vuilleumier N, Meier R, Gomez-Izquierdo L, Berney T, Garcia-Carbonero R, Rojas A, Gauthier BR.

Histochem Cell Biol. 2011 Nov;136(5):595-607. doi: 10.1007/s00418-011-0866-3. Epub 2011 Sep 20.

13.

The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects {beta}-cells against stress-induced apoptosis.

Baquié M, St-Onge L, Kerr-Conte J, Cobo-Vuilleumier N, Lorenzo PI, Jimenez Moreno CM, Cederroth CR, Nef S, Borot S, Bosco D, Wang H, Marchetti P, Pattou F, Wollheim CB, Gauthier BR.

Hum Mol Genet. 2011 Jul 15;20(14):2823-33. doi: 10.1093/hmg/ddr193. Epub 2011 May 2. Erratum in: Hum Mol Genet. 2018 Jan 15;27(2):406.

PMID:
21536586
14.

In vivo conditional Pax4 overexpression in mature islet β-cells prevents stress-induced hyperglycemia in mice.

Hu He KH, Lorenzo PI, Brun T, Jimenez Moreno CM, Aeberhard D, Vallejo Ortega J, Cornu M, Thorel F, Gjinovci A, Thorens B, Herrera PL, Meda P, Wollheim CB, Gauthier BR.

Diabetes. 2011 Jun;60(6):1705-15. doi: 10.2337/db10-1102. Epub 2011 Apr 26.

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