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Mustafa Sahin

Showing results (491-500 of 554) with videos related to

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Frontiers in Psychiatry|November 21, 2022
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neuronsElizabeth D Buttermore, Nickesha C Anderson, Pin-Fang Chen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPASTAlisa Mo, Afshin Saffari, Melanie Kellner, et al.
Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.
Elife|July 10, 2015
Cerebellar associative sensory learning defects in five mouse autism modelsAlexander D Kloth, Aleksandra Badura, Amy Li, et al.
Annals of Clinical and Translational Neurology|March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.
American Journal of Medical Genetics. Part A|July 1, 2022
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesisJulian Emanuel Alecu, Yuhsuke Ohmi, Robiul H Bhuiyan, et al.
Journal of Neurodevelopmental Disorders|May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromeTess Levy, Jacob Gluckman, Paige M Siper, et al.
Nature Communications|January 17, 2024
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegiaAfshin Saffari, Barbara Brechmann, Cedric Böger, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 15, 2022
Newborn screening for neurodevelopmental diseases: Are we there yet?Wendy K Chung, Jonathan S Berg, Jeffrey R Botkin, et al.
Journal of Neurodevelopmental Disorders|April 24, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorderItay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, et al.
Pageof 56

Showing results (491-500 of 554) with videos related to

Sort By:
Pageof 56
Frontiers in Psychiatry|November 21, 2022
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neuronsElizabeth D Buttermore, Nickesha C Anderson, Pin-Fang Chen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPASTAlisa Mo, Afshin Saffari, Melanie Kellner, et al.
Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.
Elife|July 10, 2015
Cerebellar associative sensory learning defects in five mouse autism modelsAlexander D Kloth, Aleksandra Badura, Amy Li, et al.
Annals of Clinical and Translational Neurology|March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.
American Journal of Medical Genetics. Part A|July 1, 2022
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesisJulian Emanuel Alecu, Yuhsuke Ohmi, Robiul H Bhuiyan, et al.
Journal of Neurodevelopmental Disorders|May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromeTess Levy, Jacob Gluckman, Paige M Siper, et al.
Nature Communications|January 17, 2024
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegiaAfshin Saffari, Barbara Brechmann, Cedric Böger, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 15, 2022
Newborn screening for neurodevelopmental diseases: Are we there yet?Wendy K Chung, Jonathan S Berg, Jeffrey R Botkin, et al.
Journal of Neurodevelopmental Disorders|April 24, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorderItay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, et al.
Pageof 56