MMG PUBLICATIONS

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Results: 3193  publications found.

Engel, C.  et al. 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures...
Eur J Hum Genet - issue: - volume: - pages: .

Mignon-Ravix, C.  et al. 2023

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are...
Epilepsia - issue: 6 - volume: 64 - pages: e127-e134.

Mac, TT.  et al. 2023

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary...
J Neuroendocrinol - issue: 6 - volume: 35 - pages: e13287.

Trecourt, A.  et al. 2023

CREB fusion-associated epithelioid mesenchymal neoplasms of the female adnexa: three cases documenting a novel location of an emerging entity and further highlighting an ambiguous misleading immunophenotype

EWSR1/FUS-CREB-rearranged mesenchymal neoplasms are an emerging heterogeneous group of soft tissue tumors that encompasses low-grade lesions (angiomatoid fibrous histiocytoma/AFH) and a group of...
Virchows Arch - issue: 6 - volume: 482 - pages: 967-974.

Paladino, NC.  et al. 2023

The pre-thyroidectomy surgeon's checklist. Recommendations of the AFC>E (Association francophone de chirurgie endocrinienne), with the SFE (Société française d'endocrinologie) and the SFMN (Société française de médecine nucléaire)

During the patient interview, signs of compression or invasion are sought out: dyspnea, dysphagia, dysphonia. The circumstances of discovery of the thyroid pathology are indicated. The surgeon must be...
J Visc Surg - issue: 3S - volume: 160 - pages: S65-S68.

Legrand, M.  et al. 2023

Superficial spindle cell tumour with TNC::PDGFD fusion is a distinct entity from dermatofibrosarcoma protuberans

Pathology - issue: 4 - volume: 55 - pages: 562-564.

Dormoy, A.  et al. 2023

Efficacy and Safety of Osilodrostat in Paraneoplastic Cushing Syndrome: A Real-World Multicenter Study in France

CONTEXT: Prospective studies have demonstrated the efficacy of osilodrostat in Cushing disease. No study has evaluated osilodrostat in a series of patients with paraneoplastic Cushing syndrome/ectopic...
J Clin Endocrinol Metab - issue: 6 - volume: 108 - pages: 1475-1487.

Wanert, C.  et al. 2023

Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy

Background: Genetic cardiomyopathy is a rare disease in childhood. Aims: To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype...
Arch Cardiovasc Dis. - issue: 6-7 - volume: 116 - pages: 309-315.

Argiro, L.  et al. 2023

Cardiopharyngeal Mesoderm specification into cardiac and skeletal muscle lineages in gastruloids

Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Indeed, there is a lack...
BioRxiv - issue: - volume: - pages: .

Ballouhey, O.  et al. 2023

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of...
Biomedicines - issue: 5 - volume: 11 - pages: 1438.

Cuny, T.  et al. 2023

Imaging of multiple endocrine neoplasia type 1 patients in the era of somatostatin receptor positron emission tomography-computed tomography: "no place to hide for neuroendocrine tumours"

Eur J Endocrinol - issue: 5 - volume: 188 - pages: C9-C10.

Mohammedi, K.  et al. 2023

Evidence of persistent mild hypercortisolism in patients medically treated for Cushing's disease: the Haircush study

CONTEXT: Cortisol-lowering drugs may not restore a normal cortisol secretion in Cushing's disease (CD). OBJECTIVE: Assess the long-term cortisol exposure in medically treated CD patients using...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad251.

El-Bazzal, L.  et al. 2023

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous...
Brain - issue: 5 - volume: 146 - pages: 1844-1858.

Raymond, J.  et al. 2023

Endovascular treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial

OBJECTIVE: The role of endovascular treatment in the management of patients with brain arteriovenous malformations (AVMs) remains uncertain. AVM embolization can be offered as stand-alone curative...
J Neurosurg - issue: 5 - volume: 138 - pages: 1393-1402.

Albarel, F.  et al. 2023

Pituitary and adrenal disorders induced by immune checkpoint inhibitors

Over the past decade, the development of ICI (immune checkpoint inhibitors) has constituted a revolution in the treatment of many cancers, but with a specific toxicity profile including endocrine...
Ann Endocrinol (Paris) - issue: 3 - volume: 84 - pages: 339-345.

Taïeb, D.  et al. 2023

Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck paragangliomas, which, in almost...
Lancet Diabetes Endocrinol - issue: 5 - volume: 11 - pages: 345-361.

Kervarrec, T.  et al. 2023

Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1-deficient skin carcinoma

AIMS: Recently, YAP1 fusion genes have been demonstrated in eccrine poroma and porocarcinoma, and the diagnostic use of YAP1 immunohistochemistry has been highlighted in this setting. In other organs,...
Histopathology - issue: 6 - volume: 82 - pages: 885-898.

Amodru, V.  et al. 2023

Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome

OBJECTIVE: To evaluate whether age-related differences exist in clinical characteristics, diagnostic approach, and management strategies in patients with Cushing's syndrome (CS) included in the...
Eur J Endocrinol - issue: 4 - volume: 188 - pages: 395-406.

Davalos, V.  et al. 2023

An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma

Metastatic melanoma develops once transformed melanocytic cells begin to de-differentiate into migratory and invasive melanoma cells with neural crest cell (NCC)-like and epithelial-to-mesenchymal...
Nat Commun - issue: 1 - volume: 14 - pages: 1867.

Amelot, A.  et al. 2023

Natural Course and Prognosis of Primary Spinal Glioblastoma: A Nationwide Study

BACKGROUND AND OBJECTIVES: Primary spinal glioblastoma (PsGBM) is extremely rare. The dramatic neurologic deterioration and unresectability of PsGBM makes it a particularly disabling malignant...
Neurology - issue: 14 - volume: 100 - pages: e1497-e1509.