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Acta Neuropathologica
|
July 1, 2022
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra, et al.
Brain Pathology (Zurich, Switzerland)
|
October 14, 2017
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, et al.
American Journal of Human Genetics
|
December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Francesca Mattioli, Elise Schaefer, Alex Magee, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 12, 2019
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study
Carlos Casasnovas, Montserrat Ruiz, Agatha Schlüter, et al.
Cell Reports
|
May 10, 2018
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice
Olga C Jorge-Torres, Karolina Szczesna, Laura Roa, et al.
Human Mutation
|
November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
Shen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Brain : a Journal of Neurology
|
March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.
Aging Cell
|
October 16, 2024
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Nathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, et al.
The Journal of Clinical Investigation
|
July 18, 2023
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, et al.
American Journal of Human Genetics
|
December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Kim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
Page
of 14
Search research articles
Search
Showing results (81-90 of 135) with videos related to
Sort By:
Page
of 14
Acta Neuropathologica
|
July 1, 2022
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra, et al.
Brain Pathology (Zurich, Switzerland)
|
October 14, 2017
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, et al.
American Journal of Human Genetics
|
December 13, 2016
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Francesca Mattioli, Elise Schaefer, Alex Magee, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 12, 2019
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study
Carlos Casasnovas, Montserrat Ruiz, Agatha Schlüter, et al.
Cell Reports
|
May 10, 2018
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice
Olga C Jorge-Torres, Karolina Szczesna, Laura Roa, et al.
Human Mutation
|
November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
Shen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Brain : a Journal of Neurology
|
March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.
Aging Cell
|
October 16, 2024
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Nathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, et al.
The Journal of Clinical Investigation
|
July 18, 2023
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, et al.
American Journal of Human Genetics
|
December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Kim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
Page
of 14