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BMJ Open|October 31, 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationJuliette Bacquet, Tanya Stojkovic, Amandine Boyer, et al.Mitochondrion|February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.European Journal of Endocrinology|January 24, 2021
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetesMaria Lytrivi, Valérie Senée, Paraskevi Salpea, et al.Brain : a Journal of Neurology|June 18, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.Brain : a Journal of Neurology|November 15, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probandsGuillaume Cogan, Marion Houot, Julie Bogoin, et al.Scientific Reports|June 20, 2020
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the RuleLaure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, et al.Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.Pageof 4