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Christine Barnerias

As seen in: Wiley Online Library, The American Journal of Human Genetics
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Articles

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

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By Claudie Gabillard-Lefort, Caroline Martinez, Naïg Gueguen, Louis Legoff, Anne Guimier, Sophie Rondeau, Giulia Barcia, Christine Barnerias, Benjamin Cogné, Thomas Besnard, Jessica Douglas, Olaf A Bodamer, Annalisa Vetro, Renzo Guerrini, Simona Balestrini, Valerio Conti, Laura Siri, Arnaud Chevrollier, Estelle Colin, Vincent Procaccio, Guy Lenaers, Salim Khiati, Mathilde Nizon, Olivier R. Baris, Valérie Desquiret-Dumas, Méline Wery, Elsa Lorino, Céline Bris, Delphine Prunier-Mirebeau
| The American Journal of Human Genetics Verified
Keywords TM2D3 neurodevelopmental disorder endoplasmic reticulum mitochondria ER stress mitochondrial dynamics microcephaly extracellular matrix Get full text access Log in, subscribe or purchase for full access. References 1. Parenti, I. ∙ Rabaneda, L.G. ∙ Schoen, H. ... Neurodevelopmental Disorders: From Genetics to Functional Pathways Trends Neurosci. 2020; 43:608-621 2. Mellone, S. ∙ Puricelli, C. ∙ Vurchio, D. ...
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Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy

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By Delphine Breuillard, Lisa Ouss, INSERM Paris France, Christine Barnerias
| Wiley Online Library Verified
CLINICAL NOTE Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, autosomal recessive lysosomal storage disorder that causes fatal pediatric onset progressive neurodegenerative disease. CLN2 is characterized by mutations in the TPP1 gene leading to a loss of tripeptidyl peptidase-1 [1].
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From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies

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By Cyrielle Hou, Chloé Durrleman, Baptiste Periou, Christine Barnerias
| Wiley Online Library Verified
Original Article Cyrielle Hou, orcid.org/0000-0002-0258-4738 Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil, INSERM, Paris, France Search for more papers by this author Chloé Durrleman, Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil, INSERM, Centre de Reference pour les Maladies Neuromusculaires, FILNEMUS, Paris, France Search for more papers by this author Baptiste Periou, Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil,...
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