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Human Mutation
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August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
BMJ Open
|
March 10, 2023
Harnessing neuroplasticity to improve motor performance in infants with cerebral palsy: a study protocol for the GAME randomised controlled trial
Catherine Morgan, Nadia Badawi, Roslyn N Boyd, et al.
Journal of Medical Genetics
|
November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, 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.
The Journal of Experimental Medicine
|
July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.
Iscience
|
September 8, 2025
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
Dimitri Budinger, Sharmin Alhaque, Ramón González-Méndez, et al.
Neurology. Genetics
|
March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti, Serena Galosi, Marta Romani, et al.
Cold Spring Harbor Molecular Case Studies
|
April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathy
Lauren C Briere, Melissa A Walker, Frances A High, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
November 4, 2014
Antibodies to myelin oligodendrocyte glycoprotein in bilateral and recurrent optic neuritis
Sudarshini Ramanathan, Stephen W Reddel, Andrew Henderson, et al.
Archives of Disease in Childhood
|
July 26, 2020
Psychiatric comorbidity is common in dystonia and other movement disorders
Michelle S Lorentzos, Isobel Heyman, Benjamin J Baig, et al.
Page
of 36
Search research articles
Search
Showing results (281-290 of 353) with videos related to
Sort By:
Page
of 36
Human Mutation
|
August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
BMJ Open
|
March 10, 2023
Harnessing neuroplasticity to improve motor performance in infants with cerebral palsy: a study protocol for the GAME randomised controlled trial
Catherine Morgan, Nadia Badawi, Roslyn N Boyd, et al.
Journal of Medical Genetics
|
November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, 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.
The Journal of Experimental Medicine
|
July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.
Iscience
|
September 8, 2025
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
Dimitri Budinger, Sharmin Alhaque, Ramón González-Méndez, et al.
Neurology. Genetics
|
March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti, Serena Galosi, Marta Romani, et al.
Cold Spring Harbor Molecular Case Studies
|
April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathy
Lauren C Briere, Melissa A Walker, Frances A High, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
November 4, 2014
Antibodies to myelin oligodendrocyte glycoprotein in bilateral and recurrent optic neuritis
Sudarshini Ramanathan, Stephen W Reddel, Andrew Henderson, et al.
Archives of Disease in Childhood
|
July 26, 2020
Psychiatric comorbidity is common in dystonia and other movement disorders
Michelle S Lorentzos, Isobel Heyman, Benjamin J Baig, et al.
Page
of 36