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Toni S Pearson

Showing results (31-40 of 45) with videos related to

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Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Human Molecular Genetics|September 11, 2021
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial diseaseWen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, et al.
Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Annals of Clinical and Translational Neurology|November 3, 2022
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profileMichelle M Lee, Graeme S V McDowell, Darryl C De Vivo, et al.
Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Nature Communications|July 13, 2021
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neuronsToni S Pearson, Nalin Gupta, Waldy San Sebastian, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Human Molecular Genetics|September 11, 2021
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial diseaseWen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, et al.
Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Annals of Clinical and Translational Neurology|November 3, 2022
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profileMichelle M Lee, Graeme S V McDowell, Darryl C De Vivo, et al.
Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Nature Communications|July 13, 2021
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neuronsToni S Pearson, Nalin Gupta, Waldy San Sebastian, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Pageof 5