Maladies Rares : Génétique et Métabolisme (MRGM)

Le projet de recherche de l'unité s'inscrit dans une approche translationnelle et intégrative dite « du lit du malade au laboratoire », visant à décrire la physiopathologie de certaines maladies rares (MR) et « du laboratoire vers le patient », afin de faire bénéficier les patients des avancées de la recherche. Cette approche transrationnelle suit deux axes de recherche. Le 1er axe concerne les maladies génétiques rares du développement avec le syndrome de Goldenhar ou spectre oculo-auriculo-vertébral (OAVS) dont le déterminisme génétique est inconnu, et le syndrome de Rubinstein-Taybi lie à deux gènes connus, CREBBP et EP300. Le second axe de recherche repose sur l'étude du métabolisme énergétique et lipidique dans les dégénérescences spinocérébelleuses et les Rasopathies (syndrome de Costello et neurofibromatose de type I).

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Recent Submissions

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited

Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model

SOD1-related ALS with anticipation in a large family from Martinique

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Re-focusing on Agnathia-Otocephaly complex

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Succinate anaplerosis has an onco-driving potential in prostate cancer cells

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

Pain evaluation after day-surgery using a mobile phone application

Evidence of mosaicism in SPAST variant carriers in four French families

Management of albinism: French guidelines for diagnosis and care

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

Browse by

Recent Submissions

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies ﻿

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome ﻿

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited ﻿

Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model ﻿

SOD1-related ALS with anticipation in a large family from Martinique ﻿

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis ﻿

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas ﻿

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ﻿

Re-focusing on Agnathia-Otocephaly complex ﻿

Dopachrome tautomerase variants in patients with oculocutaneous albinism ﻿

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations ﻿

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease ﻿

Succinate anaplerosis has an onco-driving potential in prostate cancer cells ﻿

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency ﻿

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials ﻿

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56 ﻿

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum ﻿

Pain evaluation after day-surgery using a mobile phone application ﻿

Evidence of mosaicism in SPAST variant carriers in four French families ﻿

Management of albinism: French guidelines for diagnosis and care ﻿

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited

Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model

SOD1-related ALS with anticipation in a large family from Martinique

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Re-focusing on Agnathia-Otocephaly complex

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Succinate anaplerosis has an onco-driving potential in prostate cancer cells

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

Pain evaluation after day-surgery using a mobile phone application

Evidence of mosaicism in SPAST variant carriers in four French families

Management of albinism: French guidelines for diagnosis and care