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Enrico Bugiardini

Showing results (21-30 of 66) with videos related to

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Journal of Neurology|March 13, 2012
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2Rosanna Cardani, Marzia Giagnacovo, Annalisa Botta, et al.
Neurology. Genetics|April 28, 2020
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA<sup>Gly</sup> (<i>MT-TG</i>) variantOlivia V Poole, Alejandro Horga, Steven A Hardy, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2025
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation formGiulia Ricci, Francesca Torri, Lucia Ruggiero, et al.
Journal of Clinical Medicine|July 11, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related DiseasesEnrico Bugiardini, Simon Pope, René G Feichtinger, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Neurology|October 27, 2020
<i>ANGPTL6</i> Genetic Variants Are an Underlying Cause of Familial Intracranial AneurysmsIsabel C Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, et al.
Circulation. Genomic and Precision Medicine|May 10, 2021
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA VariantsLuis R Lopes, David Murphy, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2018
Vestibular dysfunction: a frequent problem for adults with mitochondrial diseaseSarah Holmes, Amanda J Male, Gita Ramdharry, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 13, 2020
Primary mitochondrial diseases increase susceptibility to bipolar affective disorderAlessandro Colasanti, Enrico Bugiardini, Sami Amawi, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
Journal of Neurology|March 13, 2012
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2Rosanna Cardani, Marzia Giagnacovo, Annalisa Botta, et al.
Neurology. Genetics|April 28, 2020
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA<sup>Gly</sup> (<i>MT-TG</i>) variantOlivia V Poole, Alejandro Horga, Steven A Hardy, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2025
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation formGiulia Ricci, Francesca Torri, Lucia Ruggiero, et al.
Journal of Clinical Medicine|July 11, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related DiseasesEnrico Bugiardini, Simon Pope, René G Feichtinger, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
Neurology|October 27, 2020
<i>ANGPTL6</i> Genetic Variants Are an Underlying Cause of Familial Intracranial AneurysmsIsabel C Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, et al.
Circulation. Genomic and Precision Medicine|May 10, 2021
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA VariantsLuis R Lopes, David Murphy, Enrico Bugiardini, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2018
Vestibular dysfunction: a frequent problem for adults with mitochondrial diseaseSarah Holmes, Amanda J Male, Gita Ramdharry, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 13, 2020
Primary mitochondrial diseases increase susceptibility to bipolar affective disorderAlessandro Colasanti, Enrico Bugiardini, Sami Amawi, et al.
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