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Neurogenetics

Showing results (461-470 of 1,081) with videos related to

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Neurogenetics|April 9, 2008
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical seriesBarbara Borroni, Silvana Archetti, Antonella Alberici, et al.
Neurogenetics|April 8, 2014
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patientCharles D Kassardjian, Margherita Milone
Neurogenetics|April 3, 2014
Large APP locus duplication in a sporadic case of cerebral haemorrhageAlbert Lladó, Oriol Grau-Rivera, Raquel Sánchez-Valle, et al.
Neurogenetics|March 22, 2014
The many faces of TUBB4A mutationsKatja Lohmann, Christine Klein
Neurogenetics|January 7, 2017
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancyAviva Fattal-Valevski, Hila Eliyahu, NItai D Fraenkel, et al.
Neurogenetics|January 8, 2017
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected childKatherine Schon, Olivera Spasic-Boskovic, Kim Brugger, et al.
Neurogenetics|December 19, 2007
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosisCinzia Gellera, Claudia Colombrita, Nicola Ticozzi, et al.
Neurogenetics|March 10, 2006
Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb musclesPatrick E Baker, Jessica A Kearney, Bendi Gong, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
Neurogenetics|October 7, 2016
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cellsOliver Kaut, Ina Schmitt, Jörg Tost, et al.
Pageof 109

Showing results (461-470 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|April 9, 2008
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical seriesBarbara Borroni, Silvana Archetti, Antonella Alberici, et al.
Neurogenetics|April 8, 2014
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patientCharles D Kassardjian, Margherita Milone
Neurogenetics|April 3, 2014
Large APP locus duplication in a sporadic case of cerebral haemorrhageAlbert Lladó, Oriol Grau-Rivera, Raquel Sánchez-Valle, et al.
Neurogenetics|March 22, 2014
The many faces of TUBB4A mutationsKatja Lohmann, Christine Klein
Neurogenetics|January 7, 2017
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancyAviva Fattal-Valevski, Hila Eliyahu, NItai D Fraenkel, et al.
Neurogenetics|January 8, 2017
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected childKatherine Schon, Olivera Spasic-Boskovic, Kim Brugger, et al.
Neurogenetics|December 19, 2007
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosisCinzia Gellera, Claudia Colombrita, Nicola Ticozzi, et al.
Neurogenetics|March 10, 2006
Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb musclesPatrick E Baker, Jessica A Kearney, Bendi Gong, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
Neurogenetics|October 7, 2016
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cellsOliver Kaut, Ina Schmitt, Jörg Tost, et al.
Pageof 109