Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Jamel Chelly

Showing results (141-150 of 226) with videos related to

Pageof 23
Sort By:
Annals of Neurology|August 4, 2020
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K MutationChristine Y Kim, Thomas Wirth, Cécile Hubsch, et al.
Annals of Neurology|October 24, 2020
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism"Christine Y Kim, Thomas Wirth, Cécile Hubsch, et al.
Current Biology : CB|January 26, 2010
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutationAlice Pavlowsky, Antonella Gianfelice, Marta Pallotto, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|December 4, 2013
Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathwayMalik Khelfaoui, Frédéric Gambino, Xander Houbaert, et al.
European Journal of Medical Genetics|November 6, 2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou, Sven Parkel, Olga Zilina, et al.
Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Expanding the clinical phenotype of patients with a ZDHHC9 mutationAlice Masurel-Paulet, Vera M Kalscheuer, Nicolas Lebrun, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
Pageof 23

Showing results (141-150 of 226) with videos related to

Sort By:
Pageof 23
Annals of Neurology|August 4, 2020
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K MutationChristine Y Kim, Thomas Wirth, Cécile Hubsch, et al.
Annals of Neurology|October 24, 2020
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism"Christine Y Kim, Thomas Wirth, Cécile Hubsch, et al.
Current Biology : CB|January 26, 2010
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutationAlice Pavlowsky, Antonella Gianfelice, Marta Pallotto, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|December 4, 2013
Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathwayMalik Khelfaoui, Frédéric Gambino, Xander Houbaert, et al.
European Journal of Medical Genetics|November 6, 2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou, Sven Parkel, Olga Zilina, et al.
Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Expanding the clinical phenotype of patients with a ZDHHC9 mutationAlice Masurel-Paulet, Vera M Kalscheuer, Nicolas Lebrun, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
Pageof 23