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Marc Patterson

Showing results (11-20 of 24) with videos related to

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Journal of the Neurological Sciences|April 11, 2003
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b geneMichelangelo Mancuso, Massimiliano Filosto, J Clarke Stevens, et al.
Journal of Inherited Metabolic Disease|September 18, 2020
Developments in evidence creation for treatments of inborn errors of metabolismSylvia Stockler-Ipsiroglu, Beth K Potter, Nataliya Yuskiv, et al.
American Journal of Medical Genetics. Part A|January 12, 2024
Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variantMarissa Cepress, Ethan Grund, Tomas Leng, et al.
Journal of the Neurological Sciences|December 22, 2009
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) geneJorida Coku, Sara Shanske, Mahsa Mehrazin, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)Bénédicte Héron, Spyros Batzios, Eugen Mengel, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Neurology|December 20, 2015
Clinical features of neuromyelitis optica in children: US Network of Pediatric MS Centers reportTanuja Chitnis, Jayne Ness, Lauren Krupp, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Journal of Child Neurology|October 2, 2014
The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next StepsT Charles Casper, John W Rose, Shelly Roalstad, et al.
Neurology|October 24, 2014
Protective environmental factors for neuromyelitis opticaJennifer Graves, Siri Grandhe, Kelley Weinfurtner, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Journal of the Neurological Sciences|April 11, 2003
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b geneMichelangelo Mancuso, Massimiliano Filosto, J Clarke Stevens, et al.
Journal of Inherited Metabolic Disease|September 18, 2020
Developments in evidence creation for treatments of inborn errors of metabolismSylvia Stockler-Ipsiroglu, Beth K Potter, Nataliya Yuskiv, et al.
American Journal of Medical Genetics. Part A|January 12, 2024
Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variantMarissa Cepress, Ethan Grund, Tomas Leng, et al.
Journal of the Neurological Sciences|December 22, 2009
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) geneJorida Coku, Sara Shanske, Mahsa Mehrazin, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)Bénédicte Héron, Spyros Batzios, Eugen Mengel, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Neurology|December 20, 2015
Clinical features of neuromyelitis optica in children: US Network of Pediatric MS Centers reportTanuja Chitnis, Jayne Ness, Lauren Krupp, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Journal of Child Neurology|October 2, 2014
The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next StepsT Charles Casper, John W Rose, Shelly Roalstad, et al.
Neurology|October 24, 2014
Protective environmental factors for neuromyelitis opticaJennifer Graves, Siri Grandhe, Kelley Weinfurtner, et al.
Pageof 3