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Simon Heales

Showing results (61-70 of 82) 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.
Molecular Genetics and Metabolism|December 10, 2015
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?Gabriella A Horvath, Michelle Demos, Casper Shyr, et al.
Molecular Aspects of Medicine|June 25, 2002
Antioxidants, reactive oxygen and nitrogen species, gene induction and mitochondrial functionMalcolm J Jackson, Sergio Papa, Juan Bolaños, et al.
Acta Neuropathologica Communications|September 8, 2022
Mitochondrial dysfunction is a key pathological driver of early stage Parkinson'sChristina E Toomey, Wendy E Heywood, James R Evans, et al.
Plos One|June 19, 2008
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neuronsAlison Wood-Kaczmar, Sonia Gandhi, Zhi Yao, et al.
American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.
Molecular Neurodegeneration|December 3, 2015
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assayWendy E Heywood, Daniela Galimberti, Emily Bliss, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Clinical Pharmacology and Therapeutics|November 9, 2019
Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective TrialRobert Chiesa, Joseph F Standing, Robert Winter, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
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.
Molecular Genetics and Metabolism|December 10, 2015
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?Gabriella A Horvath, Michelle Demos, Casper Shyr, et al.
Molecular Aspects of Medicine|June 25, 2002
Antioxidants, reactive oxygen and nitrogen species, gene induction and mitochondrial functionMalcolm J Jackson, Sergio Papa, Juan Bolaños, et al.
Acta Neuropathologica Communications|September 8, 2022
Mitochondrial dysfunction is a key pathological driver of early stage Parkinson'sChristina E Toomey, Wendy E Heywood, James R Evans, et al.
Plos One|June 19, 2008
PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neuronsAlison Wood-Kaczmar, Sonia Gandhi, Zhi Yao, et al.
American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.
Molecular Neurodegeneration|December 3, 2015
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assayWendy E Heywood, Daniela Galimberti, Emily Bliss, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Clinical Pharmacology and Therapeutics|November 9, 2019
Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective TrialRobert Chiesa, Joseph F Standing, Robert Winter, et al.
Pageof 9