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Roser Pons

Showing results (51-60 of 90) with videos related to

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Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Postgraduate Medicine|August 25, 2019
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experienceEleftheria Kokkinou, Kleoniki Roka, Alexis Alexopoulos, et al.
EMBO Molecular Medicine|November 5, 2020
Kidney cancer PDOXs reveal patient-specific pro-malignant effects of antiangiogenics and its molecular traitsLidia Moserle, Roser Pons, Mar Martínez-Lozano, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studiesOriel Carreño, Roser Corominas, Selma Angèlica Serra, et al.
Journal of Inherited Metabolic Disease|July 4, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-upAgathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, 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.
Molecular Genetics and Metabolism Reports|November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disordersThomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 14, 2025
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young ChildrenRoser Pons, Toni S Pearson, Belen Perez-Dueñas, et al.
Pageof 9

Showing results (51-60 of 90) with videos related to

Sort By:
Pageof 9
Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Postgraduate Medicine|August 25, 2019
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experienceEleftheria Kokkinou, Kleoniki Roka, Alexis Alexopoulos, et al.
EMBO Molecular Medicine|November 5, 2020
Kidney cancer PDOXs reveal patient-specific pro-malignant effects of antiangiogenics and its molecular traitsLidia Moserle, Roser Pons, Mar Martínez-Lozano, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studiesOriel Carreño, Roser Corominas, Selma Angèlica Serra, et al.
Journal of Inherited Metabolic Disease|July 4, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-upAgathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, 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.
Molecular Genetics and Metabolism Reports|November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disordersThomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 14, 2025
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young ChildrenRoser Pons, Toni S Pearson, Belen Perez-Dueñas, et al.
Pageof 9