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Frontiers in Neurology
|
February 16, 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
Delia Gagliardi, Eleonora Mauri, Francesca Magri, et al.
Journal of the Neurological Sciences
|
April 24, 2012
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients
Gianna Ulzi, Marzia Lecchi, Valeria Sansone, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Francesca Magri, Roberta Brusa, Luca Bello, et al.
Cellular and Molecular Life Sciences : CMLS
|
August 5, 2023
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
Irene Faravelli, Delia Gagliardi, Elena Abati, et al.
BMC Medical Genetics
|
March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
Francesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
Neuromuscular Disorders : NMD
|
June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
Francesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients
Simona Zanotti, Francesca Magri, Sabrina Salani, et al.
Brain : a Journal of Neurology
|
October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Genes
|
July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Annals of Clinical and Translational Neurology
|
April 17, 2026
Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice
Marika Pane, Anna Capasso, Chiara Arpaia, et al.
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Search research articles
Search
Showing results (121-130 of 174) with videos related to
Sort By:
Page
of 18
Frontiers in Neurology
|
February 16, 2019
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
Delia Gagliardi, Eleonora Mauri, Francesca Magri, et al.
Journal of the Neurological Sciences
|
April 24, 2012
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients
Gianna Ulzi, Marzia Lecchi, Valeria Sansone, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
September 9, 2020
Limb girdle muscular dystrophy due to <i>LAMA2</i> gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Francesca Magri, Roberta Brusa, Luca Bello, et al.
Cellular and Molecular Life Sciences : CMLS
|
August 5, 2023
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
Irene Faravelli, Delia Gagliardi, Elena Abati, et al.
BMC Medical Genetics
|
March 15, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
Francesca Magri, Roberto Del Bo, Maria G D'Angelo, et al.
Neuromuscular Disorders : NMD
|
June 30, 2012
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
Francesca Magri, Roberto Del Bo, Maria Grazia D'Angelo, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients
Simona Zanotti, Francesca Magri, Sabrina Salani, et al.
Brain : a Journal of Neurology
|
October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Genes
|
July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Annals of Clinical and Translational Neurology
|
April 17, 2026
Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice
Marika Pane, Anna Capasso, Chiara Arpaia, et al.
Page
of 18