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Luciano Merlini

Showing results (101-110 of 117) with videos related to

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American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2009
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mousePaola Rimessi, Patrizia Sabatelli, Marina Fabris, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Nature Genetics|October 1, 2003
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndromeRaymonda Varon, Rebecca Gooding, Christina Steglich, et al.
Neuromuscular Disorders : NMD|February 12, 2021
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patientsRaffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
Biomolecules|October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportFernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Pageof 12

Showing results (101-110 of 117) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 26, 2009
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mousePaola Rimessi, Patrizia Sabatelli, Marina Fabris, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Nature Genetics|October 1, 2003
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndromeRaymonda Varon, Rebecca Gooding, Christina Steglich, et al.
Neuromuscular Disorders : NMD|February 12, 2021
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patientsRaffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
Biomolecules|October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportFernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Pageof 12