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Barbara Garavaglia

Showing results (81-90 of 129) with videos related to

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European Journal of Neurology|March 10, 2025
Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in DystoniaAhmet Kaymak, Luigi M Romito, Fabiana Colucci, et al.
Genetic Testing and Molecular Biomarkers|October 14, 2010
Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patientsEmanuela Castiglioni, Dario Finazzi, Stefano Goldwurm, et al.
Human Molecular Genetics|July 10, 2015
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohortNiccolo E Mencacci, Léa R'bibo, Sara Bandres-Ciga, et al.
Molecular Genetics and Metabolism|January 7, 2012
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsValerio Leoni, Laura Strittmatter, Giovanna Zorzi, et al.
Journal of Clinical Medicine|December 11, 2019
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor ImprovementAnnika Danielsson, Miryam Carecchio, Laura Cif, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Annals of Neurology|January 31, 2025
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia SyndromesAhmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, et al.
Orphanet Journal of Rare Diseases|October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksChiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
Pageof 13

Showing results (81-90 of 129) with videos related to

Sort By:
Pageof 13
European Journal of Neurology|March 10, 2025
Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in DystoniaAhmet Kaymak, Luigi M Romito, Fabiana Colucci, et al.
Genetic Testing and Molecular Biomarkers|October 14, 2010
Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patientsEmanuela Castiglioni, Dario Finazzi, Stefano Goldwurm, et al.
Human Molecular Genetics|July 10, 2015
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohortNiccolo E Mencacci, Léa R'bibo, Sara Bandres-Ciga, et al.
Molecular Genetics and Metabolism|January 7, 2012
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsValerio Leoni, Laura Strittmatter, Giovanna Zorzi, et al.
Journal of Clinical Medicine|December 11, 2019
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor ImprovementAnnika Danielsson, Miryam Carecchio, Laura Cif, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Annals of Neurology|January 31, 2025
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia SyndromesAhmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, et al.
Orphanet Journal of Rare Diseases|October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksChiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
Pageof 13