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European Journal of Medical Genetics|February 26, 2023
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephalyQuentin Sabbagh, Mylène Tharreau, Camille Cenni, et al.Orphanet Journal of Rare Diseases|February 28, 2020
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosisAurore Curie, Nathalie Touil, Ségolène Gaillard, et al.Human Molecular Genetics|April 23, 2015
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instabilityClaire Angebault, Majida Charif, Naig Guegen, et al.European Journal of Radiology|August 26, 2014
Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjectsJérémy Deverdun, Sophie Menjot de Champfleur, Simon Cabello-Aguilar, et al.Neurology. Genetics|February 24, 2018
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.Annals of Clinical and Translational Neurology|July 27, 2021
Novel dominant distal titinopathy phenotype associated with copy number variationAurélien Perrin, Raul Juntas Morales, Françoise Chapon, et al.Journal of the Neurological Sciences|February 3, 2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunctionAgathe Roubertie, Nicolas Leboucq, Marie Christine Picot, et al.Neuromuscular Disorders : NMD|October 31, 2020
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathiesAurélien Perrin, Raul Juntas Morales, François Rivier, et al.European Journal of Neurology|October 6, 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficienciesMarie-Céline François-Heude, Elise Lebigot, Emmanuel Roze, et al.Pageof 5