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.
Castinetti, F. et al. 2019 [Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines]. The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly... Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.
Castinetti, F. et al. 2019 Radiotherapy as a tool for the treatment of Cushing's disease. Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a... Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.
Sahakian, N. et al. 2019 Clinical management of difficult to treat macroprolactinomas. INTRODUCTION: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as... Expert Rev Endocrinol Metab - issue: 3 - volume: 14 - pages: 179-192.
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: .
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... - issue: 5, SI - volume: 138 - pages: 455-466.