Search Results - "Haddad, Marie Reine"

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype by CACCIAGLI, Pierre, HADDAD, Marie-Reine, MIGNON-RAVIX, Cécile, EL-WALY, Bilal, MONCIA, Anne, MISSIRIAN, Chantal, CHABROL, Brigitte, VILLARD, Laurent

“…Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes…”
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Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex by El Waly, Bilal, Buhler, Emmanuelle, Haddad, Marie-Reine, Villard, Laurent

“…DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they…”
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Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model by Haddad, Marie Reine, Choi, Eun-Young, Zerfas, Patricia M., Yi, Ling, Martinelli, Diego, Sullivan, Patricia, Goldstein, David S., Centeno, Jose A., Brinster, Lauren R., Ralle, Martina, Kaler, Stephen G.

“…Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Based…”
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Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia by Haddad, Marie Reine, Donsante, Anthony, Zerfas, Patricia, Kaler, Stephen G

“…Fetal brain-directed gene addition represents an under-appreciated tool for investigating novel therapeutic approaches in animal models of central nervous…”
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A Novel Two-Nucleotide Deletion in the ATP7A Gene Associated With Delayed Infantile Onset of Menkes Disease by Wada, Takahito, MD PhD, Haddad, Marie Reine, PhD, Yi, Ling, PhD, Murakami, Tomomi, MD, Sasaki, Akiko, MD, Shimbo, Hiroko, Kodama, Hiroko, MD, PhD, Osaka, Hitoshi, MD, PhD, Kaler, Stephen G., MD

“…Abstract Background Determining the relationship between clinical phenotype and genotype in genetic diseases is important in clinical practice. In general,…”
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Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation by Cantagrel, Vincent, Haddad, Marie-Reine, Ciofi, Philippe, Andrieu, David, Lossi, Anne-Marie, Maldergem, Lionel van, Roux, Jean-Christophe, Villard, Laurent

“…We previously identified an inactivating disruption of the X-linked KIAA2022 gene by a chromosomal rearrangement in two male patients with severe mental…”
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Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features by Haddad, Marie-Reine, Mignon-Ravix, Cécile, Cacciagli, Pierre, Mégarbané, André, Villard, Laurent

“…Abstract Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible…”
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Genetic Studies on the Tripartite Glutamate Synapse in the Pathophysiology and Therapeutics of Mood Disorders by de Sousa, Rafael T, Loch, Alexandre A, Carvalho, André F, Brunoni, André R, Haddad, Marie Reine, Henter, Ioline D, Zarate, Carlos A, Machado-Vieira, Rodrigo

“…Both bipolar disorder (BD) and major depressive disorder (MDD) have high morbidity and share a genetic background. Treatment options for these mood disorders…”
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356. High-Resolution X-Ray Fluorescence Microscopy (XFM) Indicates Enhanced Brain Copper Delivery in AAV9-Treated Menkes Disease Mice by Haddad, Marie Reine, Ralle, Martina, Vine, David J., Zerfas, Patricia M., Kaler, Stephen G.

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197. Survival, Growth, and Neurobehavioral Outcomes in a Mouse Model of Menkes Disease With CSF-Directed AAV9 and Subcutaneous Copper Histidine by Reine Haddad, Marie, Martinelli, Diego, Choi, Eun-Young, Zerfas, Patricia M., Sullivan, Patricia, Goldstein, David S., Abebe, Daniel T., Centeno, Jose A., Kaler, Stephen G.

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Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model by Haddad, Marie Reine, Patel, Keyur D., Sullivan, Patricia H., Goldstein, David S., Murphy, Kevin M., Centeno, Jose A., Kaler, Stephen G.

“…Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5′ region of Atp7a, the mouse ortholog…”
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In utero copper treatment for Menkes disease associated with a severe ATP7A mutation by Haddad, Marie Reine, Macri, Charles J., Holmes, Courtney S., Goldstein, David S., Jacobson, Beryl E., Centeno, Jose A., Popek, Edwina J., Gahl, Willam A., Kaler, Stephen G.

“…Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting…”
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Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model by Haddad, Marie Reine, Choi, Eun-Young, Zerfas, Patricia M., Yi, Ling, Martinelli, Diego, Sullivan, Patricia, Goldstein, David S., Centeno, Jose A., Brinster, Lauren R., Ralle, Martina, Kaler, Stephen G.

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Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype by Choi, Eun-Young, Patel, Keyur, Haddad, Marie Reine, Yi, Ling, Holmes, Courtney, Goldstein, David S., Dutra, Amalia, Pak, Evgenia, Kaler, Stephen G.

“…ATP7A duplications are estimated to represent the molecular cause of Menkes disease in 4–10% of affected patients. We identified a novel duplication of ATP7A…”
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