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Brain : a Journal of Neurology
|
September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Emma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Analytical Chemistry
|
August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Brain Communications
|
February 25, 2021
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Shekeeb S Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Belén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Neurology
|
December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsy
Amy McTague, Umesh Nair, Sony Malhotra, et al.
Neurology
|
April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutations
Apostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
The Journal of Clinical Investigation
|
February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Niccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Kimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Genetics
|
December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer, Keren J Carss, Julia Rankin, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
Brain : a Journal of Neurology
|
September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Emma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Analytical Chemistry
|
August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Brain Communications
|
February 25, 2021
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
Shekeeb S Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Belén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Neurology
|
December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsy
Amy McTague, Umesh Nair, Sony Malhotra, et al.
Neurology
|
April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutations
Apostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
The Journal of Clinical Investigation
|
February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Niccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Kimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Genetics
|
December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer, Keren J Carss, Julia Rankin, et al.
Page
of 3