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Marina Frontali

Showing results (21-30 of 32) with videos related to

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BMC Medical Genetics|May 1, 2015
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?Maria Rosaria D'Apice, Antonio Novelli, Alessandra di Masi, et al.
Stroke|September 4, 2014
Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trialRenata De Maria, Jonica Campolo, Marina Frontali, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
Human Molecular Genetics|January 17, 2020
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survivalFrancesca Tiano, Francesca Amati, Fabio Cherubini, et al.
Nature Genetics|March 9, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, et al.
Neurogenetics|March 19, 2004
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16Luc Djoussé, Beth Knowlton, Michael R Hayden, et al.
American Journal of Human Genetics|March 6, 2012
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene regionJong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, et al.
Human Genetics|July 25, 2012
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onsetEliana Marisa Ramos, Jeanne C Latourelle, Ji-Hyun Lee, et al.
Neurogenetics|May 7, 2013
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetEliana Marisa Ramos, Jeanne C Latourelle, Tammy Gillis, et al.
Biochemical and Biophysical Research Communications|July 10, 2012
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's diseaseJi-Hyun Lee, Jong-Min Lee, Eliana Marisa Ramos, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
BMC Medical Genetics|May 1, 2015
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?Maria Rosaria D'Apice, Antonio Novelli, Alessandra di Masi, et al.
Stroke|September 4, 2014
Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trialRenata De Maria, Jonica Campolo, Marina Frontali, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
Human Molecular Genetics|January 17, 2020
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survivalFrancesca Tiano, Francesca Amati, Fabio Cherubini, et al.
Nature Genetics|March 9, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, et al.
Neurogenetics|March 19, 2004
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16Luc Djoussé, Beth Knowlton, Michael R Hayden, et al.
American Journal of Human Genetics|March 6, 2012
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene regionJong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, et al.
Human Genetics|July 25, 2012
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onsetEliana Marisa Ramos, Jeanne C Latourelle, Ji-Hyun Lee, et al.
Neurogenetics|May 7, 2013
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetEliana Marisa Ramos, Jeanne C Latourelle, Tammy Gillis, et al.
Biochemical and Biophysical Research Communications|July 10, 2012
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's diseaseJi-Hyun Lee, Jong-Min Lee, Eliana Marisa Ramos, et al.
Pageof 4