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Neurobiology of Aging|October 15, 2013
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypesIsabelle Le Ber, Inge Van Bortel, Gael Nicolas, et al.
Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 25, 2021
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene ReviewAlexander Balck, Susen Schaake, Neele Sophie Kuhnke, et al.
JAMA Neurology|September 18, 2013
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosisIsabelle Le Ber, Agnès Camuzat, Rita Guerreiro, et al.
Human Molecular Genetics|January 24, 2018
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyriaHugo Lenglet, Caroline Schmitt, Thomas Grange, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 8, 2025
RRP12 Variants Are Associated With Autosomal Recessive Brain CalcificationsEdoardo Monfrini, Paola Rinchetti, Mathieu Anheim, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 6, 2019
Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and StrengthSarah Beck-Cormier, Christopher J Lelliott, John G Logan, et al.
Translational Psychiatry|February 26, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical useThomas Husson, François Lecoquierre, Kevin Cassinari, et al.
Medrxiv : the Preprint Server for Health Sciences|February 23, 2026
Genomics link obesity and type 2 diabetes to Alzheimer's disease to unveil novel biological insightsCésar Cunha, Mario Garcia-Ureña, Raquel Sanz Martĺnez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routineKevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
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