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Brain : a Journal of Neurology
|
May 19, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, et al.
Human Molecular Genetics
|
August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Alistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Autophagy
|
September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia
Joanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Brain : a Journal of Neurology
|
September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.
Brain : a Journal of Neurology
|
May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Pedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
Plos Genetics
|
December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
Stefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Journal of Medical Genetics
|
April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiency
Caterina Garone, Robert W Taylor, Andrés Nascimento, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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of 5
Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
Brain : a Journal of Neurology
|
May 19, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, et al.
Human Molecular Genetics
|
August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
Alistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Autophagy
|
September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia
Joanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Brain : a Journal of Neurology
|
September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.
Brain : a Journal of Neurology
|
May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Pedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
Plos Genetics
|
December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
Stefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Journal of Medical Genetics
|
April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiency
Caterina Garone, Robert W Taylor, Andrés Nascimento, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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of 5