MMG PUBLICATIONS

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Results: 2318  publications found.

Romanet, P.  et al. 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its...
- issue: 6 - volume: 40 - pages: 661-674.


Wu, J.  et al. 2019

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

- issue: 5 - volume: 50 - pages: 1218+.


Wu, J.  et al. 2019

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Patients with the neurological disorder HSAN-I suffer frequent infections, attributed to a lack of pain sensation and failure to seek care for minor injuries. Whether protective CD8(+) T cells are...
- issue: 5 - volume: 50 - pages: 1218+.


Amedro, P.  et al. 2019

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

- issue: - volume: 283 - pages: 112-118.


Ghasemizadeh, A.  et al. 2019

Skeletal muscle MACF1 maintains myonuclei and mitochondria localization through microtubules to control muscle functionalities

<h3>Abstract</h3> <p>Skeletal muscle is made from multinuclear myofiber, where myonuclei are positioned at the periphery or clustered below neuromuscular junctions (NMJs). While mispositioned...
- issue: - volume: - pages: 636464.


Amedro, P.  et al. 2019

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

Background: Advances in congenital heart disease (CHD) have transferred the mortality from childhood to adulthood. Exercise capacity in young patients with CHD remains lower than in the general...
- issue: - volume: 283 - pages: 112-118.


Nguyen, K.  et al. 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Circ Genom Precis Med - issue: 5 - volume: 12 - pages: e002500.


Juzaud, M.  et al. 2019

Correlation Between Clinical Signs and High-resolution Manometry Data in Children

- issue: 5 - volume: 68 - pages: 642-647.


de Leusse, C.  et al. 2019

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B

- issue: 5 - volume: 68 - pages: E85.


Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

- issue: 5 - volume: 60 - pages: 845-856.


Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

- issue: 10 - volume: 7 - pages: .


Correard, S.  et al. 2019

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

- issue: 5, SI - volume: 138 - pages: 455-466.


Castinetti, F.  et al. 2019

Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines

- issue: 5 - volume: 106 - pages: 492-496.


Dallali, H.  et al. 2019

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

- issue: 5 - volume: 56 - pages: 515-523.


Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

OBJECTIVE: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. METHODS: We reviewed...
Epilepsia - issue: 5 - volume: 60 - pages: 845-856.


Correard, S.  et al. 2019

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

In humans, hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), constitute a clinically and genetically heterogeneous group of disorders...
Hum. Genet. - issue: 5 - volume: 138 - pages: 455-466.


Juzaud, M.  et al. 2019

Correlation Between Clinical Signs and High-resolution Manometry Data in Children

Objectives: High-resolution manometry (HRM) is the gold standard for diagnosis of esophageal motility disorders. However, clinical signs associated with these disorders are nonspecific, and it is...
- issue: 5 - volume: 68 - pages: 642-647.


de Leusse, C.  et al. 2019

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B

- issue: 5 - volume: 68 - pages: E85.


Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

Objective: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. Methods: We reviewed...
- issue: 5 - volume: 60 - pages: 845-856.


Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development...
- issue: 10 - volume: 7 - pages: .