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Authors: Isabelle Meunier
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Journal Article

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders Get access

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James Liu and others
Brain, Volume 147, Issue 6, June 2024, Pages 2085–2097, https://doi.org/10.1093/brain/awae055
Published: 13 May 2024
Journal Article

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

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Neringa Jurkute and others
Brain Communications, Volume 3, Issue 3, 2021, fcab162, https://doi.org/10.1093/braincomms/fcab162
Published: 20 July 2021
Journal Article

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

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Majida Charif and others
Brain Communications, Volume 3, Issue 2, 2021, fcab063, https://doi.org/10.1093/braincomms/fcab063
Published: 07 April 2021
Journal Article

Reply: The expanding neurological phenotype of DNM1L-related disorders

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Sylvie Gerber and others
Brain, Volume 141, Issue 4, April 2018, Page e29, https://doi.org/10.1093/brain/awy027
Published: 26 February 2018
Journal Article

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

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Sylvie Gerber and others
Brain, Volume 140, Issue 10, October 2017, Pages 2586–2596, https://doi.org/10.1093/brain/awx219
Published: 23 September 2017
Journal Article

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

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Gaël Manes and others
Human Molecular Genetics, Volume 26, Issue 22, 15 November 2017, Pages 4367–4374, https://doi.org/10.1093/hmg/ddx322
Published: 21 August 2017
Journal Article

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

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Stylianos Michalakis and others
Human Molecular Genetics, Volume 26, Issue 2, 15 January 2017, Page 466, https://doi.org/10.1093/hmg/ddw424
Published: 10 March 2017
Journal Article

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

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Isabelle Meunier and others
Human Molecular Genetics, Volume 25, Issue 5, 1 March 2016, Pages 916–926, https://doi.org/10.1093/hmg/ddv624
Published: 06 January 2016
Journal Article

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2 Get access

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Stylianos Michalakis and others
Human Molecular Genetics, Volume 23, Issue 6, 15 March 2014, Pages 1538–1550, https://doi.org/10.1093/hmg/ddt541
Published: 26 October 2013
Journal Article

Assessment of the Efficacy of Commercially Available and Candidate Vaccines against a Pandemic H1N1 2009 Virus

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Gary P. Kobinger and others
The Journal of Infectious Diseases, Volume 201, Issue 7, 1 April 2010, Pages 1000–1006, https://doi.org/10.1086/651171
Published: 01 April 2010