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Nucleic Acids Research
|
September 23, 2025
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant
Marianne Victoria Lemée, Maria Nicla Loviglio, Tao Ye, et al.
Human Molecular Genetics
|
October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development
Loïc Broix, Laure Asselin, Carla G Silva, et al.
Nature Communications
|
May 16, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Ekaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
Meghna Kannan, Efil Bayam, Christel Wagner, et al.
Nature Communications
|
May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Laure Asselin, José Rivera Alvarez, Solveig Heide, et al.
EMBO Molecular Medicine
|
November 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
Efil Bayam, Peggy Tilly, Stephan C Collins, et al.
Nature Genetics
|
October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Brain : a Journal of Neurology
|
June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent context
Pierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
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Showing results (11-20 of 20) with videos related to
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This site can display upto 20 results.
Nucleic Acids Research
|
September 23, 2025
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant
Marianne Victoria Lemée, Maria Nicla Loviglio, Tao Ye, et al.
Human Molecular Genetics
|
October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development
Loïc Broix, Laure Asselin, Carla G Silva, et al.
Nature Communications
|
May 16, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis
Ekaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
Meghna Kannan, Efil Bayam, Christel Wagner, et al.
Nature Communications
|
May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Laure Asselin, José Rivera Alvarez, Solveig Heide, et al.
EMBO Molecular Medicine
|
November 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
Efil Bayam, Peggy Tilly, Stephan C Collins, et al.
Nature Genetics
|
October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Brain : a Journal of Neurology
|
June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent context
Pierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
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