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

DAI, Wangde; AMOEDO, Nivea Dias; PERRY, Justin ...

(Cardiovascular Drugs and Therapy, 2022-04)

Article de revue

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

GIGUET-VALARD, Anna-Gaelle; BELLANCE, Remi; JEANNIN, Severine ...

(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)

Article de revue

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

DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...

(European Journal of Human Genetics, 2021-06-01)

Article de revueLibre acceso

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

AMOEDO, Nivea Dias; SARLAK, Saharnaz

; OBRE, Emilie ...

(Journal of Clinical Investigation. vol. 131, n° 1, 2021-01-04)

Article de revue

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

PELLETIER, Felixe; PERRIER, Stefanie; CAYAMI, Ferdy K. ...

(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)

Article de revueLibre acceso

Re-focusing on Agnathia-Otocephaly complex

DUBUCS, C.; CHASSAING, N.; SERGI, C. ...

(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)

Article de revue

Dopachrome tautomerase variants in patients with oculocutaneous albinism

PENNAMEN, Perrine

; TINGAUD-SEQUEIRA, Angele; GAZOVA, Iveta ...

(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)

Article de revue

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

MEREAUX, Jean-Loup; FIRANESCU, Cristina; COARELLI, Giulia ...

(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)

Article de revueLibre acceso

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

ANGELINI, Chloe; TRIMOUILLE, Aurelien

; ARVEILER, Benoit

...

(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)

Article de revue

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

SANT’ANNA-SILVA, Ana Carolina B.; PEREZ-VALENCIA, Juan A.; SCIACOVELLI, Marco ...

(Cancers. vol. 13, n° 7, 2021-04-06)

Article de revueLibre acceso

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

MARELLI, Cecilia; LAVIGNE, Christian; STEPIEN, Karolina M. ...

(Journal of Inherited Metabolic Disease. vol. 44, n° 3, pp. 777-786, 2021-05)

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

GARDE, Aurore; GUIBAUD, Laurent; GOLDENBERG, Alice ...

(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)

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Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

LEGRAND, A.; PUJOL, C.; DURAND, Christelle

...

(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)

Article de revue

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

TINGAUD-SEQUEIRA, Angele; TRIMOUILLE, Aurelien

; SALARIA, Manju ...

(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)

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Pain evaluation after day-surgery using a mobile phone application

CARLIER, Jerome; ROBIN, Florian; PAGES, Nicolas ...

(Anaesthesia Critical Care & Pain Medicine. vol. 40, n° 3, 2021-06)

Article de revue

Evidence of mosaicism in SPAST variant carriers in four French families

ANGELINI, Chloe; GOIZET, Cyril

; AIT SAID, Samia ...

(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)

Article de revue

Management of albinism: French guidelines for diagnosis and care

MORENO-ARTERO, E.; MORICE-PICARD, Fanny; BREMOND-GIGNAC, D. ...

(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)

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Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2

HARLY, Christelle; JOYCE, Stephen Paul; DOMBLIDES, Charlotte

...

(Science Immunology. vol. 6, n° 61, 2021-07-30)

Article de revue

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...

(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)

Article de revue

Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.

RICCARDI, Florence; ASTIER, Alexandre; GRISVAL, Margot ...

(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)

Article de revue

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

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 ﻿

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2 ﻿

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2) ﻿

Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al. ﻿

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

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.