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Thierry Frebourg

Showing results (71-80 of 150) with videos related to

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Cellular and Molecular Life Sciences : CMLS|August 9, 2019
Glutamate controls vessel-associated migration of GABA interneurons from the pial migratory route via NMDA receptors and endothelial protease activationCécile Léger, Nicolas Dupré, Caroline Aligny, et al.
Acta Neuropathologica Communications|December 5, 2019
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomasAlice Goldenberg, Florent Marguet, Vianney Gilard, et al.
Human Mutation|August 31, 2006
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaquesCecile Dumanchin, Isabelle Tournier, Cosette Martin, et al.
Journal of Alzheimer'S Disease : JAD|February 27, 2018
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease PatientKilan Le Guennec, Hélène Tubeuf, Didier Hannequin, et al.
European Journal of Human Genetics : EJHG|July 20, 2017
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumorArnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, et al.
Brain : a Journal of Neurology|September 9, 2006
Phenotype associated with APP duplication in five familiesLucie Cabrejo, Lucie Guyant-Maréchal, Annie Laquerrière, et al.
Journal of Neurology|May 28, 2016
XPR1 mutations are a rare cause of primary familial brain calcificationMathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblingsMaud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 2, 2015
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriersGaël Nicolas, Camille Charbonnier, Roberta Rodrigues de Lemos, et al.
Neurobiology of Disease|February 15, 2008
Association study of the GAB2 gene with the risk of developing Alzheimer's diseaseJulien Chapuis, Didier Hannequin, Florence Pasquier, et al.
Pageof 15

Showing results (71-80 of 150) with videos related to

Sort By:
Pageof 15
Cellular and Molecular Life Sciences : CMLS|August 9, 2019
Glutamate controls vessel-associated migration of GABA interneurons from the pial migratory route via NMDA receptors and endothelial protease activationCécile Léger, Nicolas Dupré, Caroline Aligny, et al.
Acta Neuropathologica Communications|December 5, 2019
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomasAlice Goldenberg, Florent Marguet, Vianney Gilard, et al.
Human Mutation|August 31, 2006
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaquesCecile Dumanchin, Isabelle Tournier, Cosette Martin, et al.
Journal of Alzheimer'S Disease : JAD|February 27, 2018
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease PatientKilan Le Guennec, Hélène Tubeuf, Didier Hannequin, et al.
European Journal of Human Genetics : EJHG|July 20, 2017
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumorArnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, et al.
Brain : a Journal of Neurology|September 9, 2006
Phenotype associated with APP duplication in five familiesLucie Cabrejo, Lucie Guyant-Maréchal, Annie Laquerrière, et al.
Journal of Neurology|May 28, 2016
XPR1 mutations are a rare cause of primary familial brain calcificationMathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblingsMaud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 2, 2015
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriersGaël Nicolas, Camille Charbonnier, Roberta Rodrigues de Lemos, et al.
Neurobiology of Disease|February 15, 2008
Association study of the GAB2 gene with the risk of developing Alzheimer's diseaseJulien Chapuis, Didier Hannequin, Florence Pasquier, et al.
Pageof 15