Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: Recent submissions
Now showing items 1-20 of 150
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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 95, n° 3, pp. 288-290, 2024-02-14)Article de revue -
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
(American Journal of Medical Genetics Part A. vol. 194, n° 7, pp. e63559, 2024-07-01)Article de revueOpen access -
Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)
(Therapie. vol. 79, n° 6, pp. 709-717, 2024-06-05)Article de revueOpen access -
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.
(Frontiers in Genetics. vol. 15, pp. 1432272, 2024-09-11)Article de revueOpen access -
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
(Genetics in Medicine. vol. 26, n° 1, pp. 101007, 2024-01-01)Article de revue -
Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
(Molecular Genetics and Metabolism Reports. vol. 39, pp. 101076, 2024-06-01)Article de revueOpen access -
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
(Annals of Neurology. vol. 78, n° 6, pp. 871-86, 2015-12-01)Article de revue -
SCA27 is a cause of early-onset ataxia and developmental delay.
(European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol. 19, n° 2, pp. 271-3, 2015-03-01)Article de revue -
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.
(American Journal of Medical Genetics Part A. vol. 167A, n° 11, pp. 2714-9, 2015-11-01)Article de revue -
Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.
(International Journal of Biochemistry and Cell Biology. vol. 63, pp. 2-9, 2015-06-01)Article de revue -
Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.
(International Journal of Biochemistry and Cell Biology. vol. 59, pp. 167-81, 2015-02-01)Article de revue -
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.
(Cardiology in the Young. pp. 1-4, 2024-10-11)Article de revue -
Acid sphingomyelinase deficiency in France: a retrospective survival study.
(Orphanet Journal of Rare Diseases. vol. 19, n° 1, pp. 289, 2024-08-05)Article de revueOpen access -
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
(European Journal of Human Genetics. vol. 32, n° 11, pp. 1347-1360, 2024-07-31)Article de revueOpen access -
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
(Circulation: Genomic and Precision Medicine. vol. 17, n° 1, pp. e004285, 2024-02-01)Article de revue -
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
(Nature Communications. vol. 15, n° 1, pp. 8436, 2024-09-30)Article de revueOpen access -
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
(Documenta Ophthalmologica. vol. 149, n° 1, pp. 47-52, 2024-08-01)Article de revue -
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
(International Journal of Molecular Sciences. vol. 25, n° 16, 2024-08-08)Article de revueOpen access -
Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.
(Cytotherapy. vol. 26, n° 8, pp. 813-824, 2024-08-01)Article de revue -
Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis
(AIDS. vol. 37, n° 7, pp. 1035-1046, 2023)Article de revue