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Simon Heales

Showing results (71-80 of 82) with videos related to

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Nature Communications|August 31, 2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transferJulien Baruteau, Dany P Perocheau, Joanna Hanley, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Nature Medicine|July 18, 2018
Fetal gene therapy for neurodegenerative disease of infantsGiulia Massaro, Citra N Z Mattar, Andrew M S Wong, et al.
NPJ Parkinson'S Disease|November 24, 2022
Protein aggregation and calcium dysregulation are hallmarks of familial Parkinson's disease in midbrain dopaminergic neuronsGurvir S Virdi, Minee L Choi, James R Evans, et al.
The Journal of Investigative Dermatology|October 6, 2023
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular NeurocalcificationNicole Knöpfel, Davide Zecchin, Hanna Richardson, 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.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Clinical Chemistry and Laboratory Medicine|November 17, 2022
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical useJenny Hällqvist, Dan Lane, Andrew Shapanis, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Nature Communications|August 31, 2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transferJulien Baruteau, Dany P Perocheau, Joanna Hanley, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Nature Medicine|July 18, 2018
Fetal gene therapy for neurodegenerative disease of infantsGiulia Massaro, Citra N Z Mattar, Andrew M S Wong, et al.
NPJ Parkinson'S Disease|November 24, 2022
Protein aggregation and calcium dysregulation are hallmarks of familial Parkinson's disease in midbrain dopaminergic neuronsGurvir S Virdi, Minee L Choi, James R Evans, et al.
The Journal of Investigative Dermatology|October 6, 2023
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular NeurocalcificationNicole Knöpfel, Davide Zecchin, Hanna Richardson, 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.
Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Clinical Chemistry and Laboratory Medicine|November 17, 2022
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical useJenny Hällqvist, Dan Lane, Andrew Shapanis, et al.
Pageof 9