Gaillard, M. et al. 2016 Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence... BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.
Gaillard, M. et al. 2016 Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence... BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.
Gaillard, M. et al. 2016 Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report Background: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence... BMC Med. Genet. - issue: - volume: 17 - pages: 66.
El Bazzal, L. et al. 2016 New Missense Mutations in the Vaccinia-Related Kinase 1 Gene Are Associated with Autosomal Recessive Axonal Charcot-Marie-Tooth Disease J. Peripher. Nerv. Syst. - issue: 3 - volume: 21 - pages: 251-252.
Nouar, R. et al. 2016 Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells Stathmin is a prominent destabilizer of microtubules (MTs). Extensive in vitro studies have strongly suggested that stathmin could act by sequestering tubulin and/or by binding to MT tips. In cells,... FASEB J. - issue: 9 - volume: 30 - pages: 3202-3215.
Badens, C. et al. 2016 Advances in understanding the pathogenesis of the red cell volume disorders Genetic defects of erythrocyte transport proteins cause disorders of red blood cell volume that are characterized by abnormal permeability to the cations Na(+) and K(+) and, consequently, by changes... Br. J. Haematol. - issue: 5 - volume: 174 - pages: 674-685.
Nouar, R. et al. 2016 Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells Stathmin is a prominent destabilizer of microtubules (MTs). Extensive in vitro studies have strongly suggested that stathmin could act by sequestering tubulin and/or by binding to MT tips. In cells,... FASEB J. - issue: 9 - volume: 30 - pages: 3202-3215.
Badens, C. et al. 2016 Advances in understanding the pathogenesis of the red cell volume disorders Genetic defects of erythrocyte transport proteins cause disorders of red blood cell volume that are characterized by abnormal permeability to the cations Na(+) and K(+) and, consequently, by changes... Br. J. Haematol. - issue: 5 - volume: 174 - pages: 674-685.
El Bazzal, L. et al. 2016 New Missense Mutations in the Vaccinia-Related Kinase 1 Gene Are Associated with Autosomal Recessive Axonal Charcot-Marie-Tooth Disease WOS:000383856200260 J. Peripher. Nerv. Syst. - issue: 3 - volume: 21 - pages: 251-252.
Harhouri, K. et al. 2016 Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS... Cells - issue: 3 - volume: 5 - pages: 31.
Alam, MM. et al. 2016 π-Extended diketopyrrolopyrrole-porphyrin arrays: one- and two-photon photophysical investigations and theoretical studies A complete one- and two-photon spectroscopic and photophysical characterization of three diketopyrrolopyrrole (DPP)-porphyrin conjugates is reported. The increased conjugation introduced by the... Phys Chem Chem Phys - issue: 31 - volume: 18 - pages: 21954-21965.
Alam, MM. et al. 2016 π-Extended diketopyrrolopyrrole-porphyrin arrays: one- and two-photon photophysical investigations and theoretical studies A complete one- and two-photon spectroscopic and photophysical characterization of three diketopyrrolopyrrole (DPP)-porphyrin conjugates is reported. The increased conjugation introduced by the... Phys Chem Chem Phys - issue: 31 - volume: 18 - pages: 21954-21965.
Miltgen, M. et al. 2016 Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.
Runnqvist, E. et al. 2016 Internal modeling of upcoming speech: A causal role of the right posterior cerebellum in non-motor aspects of language production Some language processing theories propose that, just as for other somatic actions, self-monitoring of language production is achieved through internal modeling. The cerebellum is the proposed center... Cortex - issue: - volume: 81 - pages: 203-214.
Miltgen, M. et al. 2016 Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.
Miltgen, M. et al. 2016 Novel Heterozygous Mutation in ANO3 Responsible for Craniocervical Dystonia WOS:000382558800031 Mov. Disord. - issue: 8 - volume: 31 - pages: 1251-1252.
Runnqvist, E. et al. 2016 Internal modeling of upcoming speech: A causal role of the right posterior cerebellum in non-motor aspects of language production Some language processing theories propose that, just as for other somatic actions, self-monitoring of language production is achieved through internal modeling. The cerebellum is the proposed center... Cortex - issue: - volume: 81 - pages: 203-214.
Bais, P. et al. 2016 Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot-Marie-Tooth type 2D... Biol Open - issue: 7 - volume: 5 - pages: 908-920.
Harhouri, K. et al. 2016 Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS... Cells - issue: 3 - volume: 5 - pages: .
Harhouri, K. et al. 2016 Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS... Cells - issue: 3 - volume: 5 - pages: .