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Neurogenetics|July 21, 2009
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A diseaseVirginie Guillet, Naïg Gueguen, Christophe Verny, et al.Human Mutation|September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferré, Angélique Caignard, Dan Milea, et al.Journal of Huntington'S Disease|February 20, 2025
Social cognition profile in early Huntington disease: Insight from neuropsychological assessment and structural neuroimagingMarie Caillaud, Mickael Laisney, Alexandre Bejanin, et al.Annals of Neurology|March 14, 2002
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findingsDominique Bonneau, Annick Toutain, Annie Laquerrière, et al.Journal of the Peripheral Nervous System : JPNS|October 6, 2016
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutationsPhilippe Codron, Arnaud Chevrollier, Mariame S Kane, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 3, 2011
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutationVirginie Guillet, Naïg Gueguen, Romain Cartoni, et al.Frontiers in Neurology|April 12, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic NeuropathyMajida Charif, Céline Bris, David Goudenège, et al.Human Genetics|July 27, 2021
ZNF668 deficiency causes a recognizable disorder of DNA damage repairHessa S Alsaif, Hatoon Al Ali, Eissa Faqeih, et al.Communications Biology|May 11, 2021
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathiesHyun-Sook Park, Eirini Papanastasi, Gabriela Blanchard, et al.Communications Medicine|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsMarie Vincent, Soizic Tiriau, Marine Fouillet-Desjonqueres, et al.Pageof 33