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: .
Gordon, CT. et al. 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense... Nature Genet. - issue: 2 - volume: 49 - pages: 249-255.
Duclos, Y. et al. 2017 Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish.... Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.
Roux, M. et al. 2017 Hoxa1 and Hoxb1 are required for pharyngeal arch artery development Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres... Mech Dev - issue: - volume: 143 - pages: 1-8.
Stefanovic, S. et al. 2017 Mechanisms of retinoic acid signaling during cardiogenesis Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a... Mech. Dev. - issue: - volume: 143 - pages: 9-19.
Arnaud, P. et al. 2017 Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound... J. Med. Genet. - issue: 2 - volume: 54 - pages: 100-103.
Roux, M. et al. 2017 Hoxa1 and Hoxb1 are required for pharyngeal arch artery development Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres... - issue: - volume: 143 - pages: 1-8.
Stefanovic, S. et al. 2017 Mechanisms of retinoic acid signaling during cardiogenesis Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a... Mech Dev - issue: - volume: 143 - pages: 9-19.
Duclos, Y. et al. 2017 Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish.... Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.
Gordon, CT. et al. 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense... Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.
Arnaud, P. et al. 2017 Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound... J. Med. Genet. - issue: 2 - volume: 54 - pages: 100-103.
Gordon, CT. et al. 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense... Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.
Gesquière-Dando, A. et al. 2017 Are electrophysiological features related to disability in patients with anti-MAG neuropathy? OBJECTIVES: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy. METHODS: Clinical and electrophysiological data of 42 patients with... Neurophysiol Clin - issue: 1 - volume: 47 - pages: 75-81.
Stefanovic, S. et al. 2017 Mechanisms of retinoic acid signaling during cardiogenesis Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a... Mech. Dev. - issue: - volume: 143 - pages: 9-19.
Gordon, CT. et al. 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense... Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.
Gesquière-Dando, A. et al. 2017 Are electrophysiological features related to disability in patients with anti-MAG neuropathy? OBJECTIVES: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy. METHODS: Clinical and electrophysiological data of 42 patients with... Neurophysiol Clin - issue: 1 - volume: 47 - pages: 75-81.