Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Date
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Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)
(Bordeaux, 2014-11-27)Thèses de doctorat -
Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer
(Bordeaux, 2014-12-12)Thèses de doctorat -
Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.
OBRE, Emilie; ROSSIGNOL, Rodrigue
(International Journal of Biochemistry and Cell Biology. vol. 59, pp. 167-81, 2015-02-01)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 -
Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.
ROSSIGNOL, Rodrigue
(International Journal of Biochemistry and Cell Biology. vol. 63, pp. 2-9, 2015-06-01)Article de revue -
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
(Journal of Cardiovascular Electrophysiology. vol. 26, n° 10, pp. 1146-1150, 2015-10-01)Article de revue -
Mitochondrial degradation and energy metabolism.
(BBA - Biochimica et Biophysica Acta. vol. 1853, n° 10 Pt B, pp. 2812-2821, 2015-10-01)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 -
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 -
TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death.
(Free Radical Biology and Medicine. vol. 89, pp. 1036-48, 2015-12-01)Article de revue -
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.
(European Journal of Human Genetics. vol. 25, n° 1, pp. 52-58, 2016-01-01)Article de revueLibre accès
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Albinism in a patient with mutations at both the OA1 and OCA3 loci.
(Pigment Cell & Melanoma research. vol. 29, n° 1, pp. 107-109, 2016-01-01)Article de revue -
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS
(Journal of Medical Genetics. vol. 53, n° 11, pp. 752-760, 2016-11-01)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
BERENGUER, Marie; DARNAUDERY, Muriel; CLAVEROL, Stephane ...
(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
End-expiratory occlusion maneuver to predict fluid responsiveness in the intensive care unit : an echocardiographic study
GEORGES, D.; DE COURSON DE LA VILLENEUVE, Hugues; LANCHON, R. ...
(Crit Care. vol. 22, n° 1, pp. 32, 2018-02)Article de revueLibre accès
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Human mitochondrial DNA sequencing by Oxford Nanopore MinION
(51. Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with European Meeting on Psychosocial Aspects of Genetics (EMPAG), IT, Milan, 2019)Autre communication scientifique (congrès sans actes - poster - séminaire...) -
Evaluation of the template letter regarding the disclosure of genetic information within the family in France
(Journal of Community Genetics. vol. 10, n° 4, pp. 489-, 2019-10)Article de revue -
Techniques d'exploration chromosomique en prénatal : mises au point et applications
(Bordeaux, 2019-10-07)Thèses de doctorat