Wolff, M. et al. 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71... Brain - issue: - volume: - pages: .
Wolff, M. et al. 2017 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71... Brain - issue: - volume: - pages: .
Cerino, M. et al. 2017 Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic... Muscle Nerve - issue: - volume: - pages: .
Cerino, M. et al. 2017 Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic... Muscle Nerve - issue: - volume: - pages: .
Cerino, M. et al. 2017 Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic... Muscle Nerve - issue: - volume: - pages: .
Cerino, M. et al. 2017 Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic... Muscle Nerve - issue: - volume: - pages: .
Matagne, V. et al. 2017 A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of... Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.
Delmont, E. et al. 2017 Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study Our objective was to assess determinants of quality of life (QoL) in anti-myelin associated glycoprotein antibody (MAG) neuropathy. The SF-36 questionnaire was assessed in 55 patients, from Marseille,... J. Peripher. Nerv. Syst. - issue: 1 - volume: 22 - pages: 27-33.
Delmont, E. et al. 2017 Determinants of health-related quality of life in anti-MAG neuropathy: a cross-sectional multicentre European study Our objective was to assess determinants of quality of life (QoL) in anti-myelin associated glycoprotein antibody (MAG) neuropathy. The SF-36 questionnaire was assessed in 55 patients, from Marseille,... J. Peripher. Nerv. Syst. - issue: 1 - volume: 22 - pages: 27-33.
Eroukhmanoff, J. et al. 2017 MRI follow-up is unnecessary in patients with macroprolactinomas and long-term normal prolactin levels on dopamine agonist treatment OBJECTIVE: Both antitumor and antisecretory efficacies of dopamine agonists (DA) make them the first-line treatment of macroprolactinomas. However, there is no guideline for MRI follow-up once... Eur. J. Endocrinol. - issue: 3 - volume: 176 - pages: 323-328.
Matagne, V. et al. 2017 A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of... Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.
Matagne, V. et al. 2017 A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of... Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.
Froudarakis, ME. et al. 2017 Positive pleural cytology is an indicator for visceral pleural invasion in metastatic pleural effusions INTRODUCTION: In case of undiagnosed pleural effusions, it is necessary to conduct thoracentesis with pleural fluid (PF) cytology. Yet, sensitivity of PF cytology is widely variable as a result of... Clin Respir J - issue: - volume: - pages: .
Froudarakis, ME. et al. 2017 Positive pleural cytology is an indicator for visceral pleural invasion in metastatic pleural effusions INTRODUCTION: In case of undiagnosed pleural effusions, it is necessary to conduct thoracentesis with pleural fluid (PF) cytology. Yet, sensitivity of PF cytology is widely variable as a result of... Clin Respir J - issue: - volume: - pages: .
Noury, J. et al. 2017 Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement... Muscle Nerve - issue: - volume: - pages: .
Noury, J. et al. 2017 Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement... Muscle Nerve - issue: - volume: - pages: .
Galvani, G. et al. 2017 Conversion of 3-Bromo-2H-coumarins to 3-(Benzofuran-2-yl)-2H-coumarins under Palladium Catalysis: Synthesis and Photophysical Properties Study An intriguing conversion of 3-bromo-2H-coumarins to 3-(benzofuran-2-yl)-2H-coumarins under palladium catalysis is reported. The process involves, from only one single starting material, three... Org. Lett. - issue: 4 - volume: 19 - pages: 910-913.
Galvani, G. et al. 2017 Conversion of 3-Bromo-2H-coumarins to 3-(Benzofuran-2-yl)-2H-coumarins under Palladium Catalysis: Synthesis and Photophysical Properties Study An intriguing conversion of 3-bromo-2H-coumarins to 3-(benzofuran-2-yl)-2H-coumarins under palladium catalysis is reported. The process involves, from only one single starting material, three... Org. Lett. - issue: 4 - volume: 19 - pages: 910-913.
Grimaldi, S. et al. 2017 Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis INTRODUCTION: We propose a motor unit number index (MUNIX) global sum score in amyotrophic lateral sclerosis (ALS) to estimate the loss of functional motor units. METHODS: MUNIX was assessed for 18... Muscle Nerve - issue: - volume: - pages: .
Grimaldi, S. et al. 2017 Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis INTRODUCTION: We propose a motor unit number index (MUNIX) global sum score in amyotrophic lateral sclerosis (ALS) to estimate the loss of functional motor units. METHODS: MUNIX was assessed for 18... Muscle Nerve - issue: - volume: - pages: .