Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Reymundo Lozano"'
Autor:
David Hough, Alice R. Mao, Michael Aman, Reymundo Lozano, Constance Smith-Hicks, Veronica Martinez-Cerdeno, Michael Derby, Zachary Rome, Niel Malan, Robert L. Findling
Publikováno v:
Annals of General Psychiatry, Vol 22, Iss 1, Pp 1-12 (2023)
Abstract Background There is a critical need for effective treatment of the core symptoms of autism spectrum disorder (ASD). The purinergic antagonist suramin may improve core symptoms through restoration of normal mitochondrial function and reductio
Externí odkaz:
https://doaj.org/article/1743603b9ad44d018904136d758c5761
Autor:
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Publikováno v:
Cells, Vol 12, Iss 18, p 2330 (2023)
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms lead
Externí odkaz:
https://doaj.org/article/a0b6f75a833d4184b35d72147f86dffc
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100235- (2023)
Externí odkaz:
https://doaj.org/article/8cbf3a9c177040b0b8a1d57ee81aacdc
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100257- (2023)
Externí odkaz:
https://doaj.org/article/b69903369aea4d91bdb7e275257aae3a
Publikováno v:
Genes, Vol 14, Iss 8, p 1587 (2023)
Limb-girdle muscular dystrophies are a group of genetic disorders classically manifesting with progressive proximal muscle weakness. Affected individuals present with atrophy and weakness of the muscles of the shoulders and hips, and in some cases, i
Externí odkaz:
https://doaj.org/article/a24a6050cf30471d8033218bb3327dbf
Publikováno v:
Women's Health Reports, Vol 2, Iss 1, Pp 500-506 (2021)
Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particular
Externí odkaz:
https://doaj.org/article/a62e43d9b4d545fbb1c520df8fa8dde3
Autor:
M. Pilar Trelles, Tess Levy, Bonnie Lerman, Paige Siper, Reymundo Lozano, Danielle Halpern, Hannah Walker, Jessica Zweifach, Yitzchak Frank, Jennifer Foss-Feig, Alexander Kolevzon, Joseph Buxbaum
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-15 (2021)
Abstract Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluated nine children and
Externí odkaz:
https://doaj.org/article/cf9eccf0c29f41fca7d360995a8f12bb
Autor:
Lara Tang, Tess Levy, Sylvia Guillory, Danielle Halpern, Jessica Zweifach, Ivy Giserman-Kiss, Jennifer H. Foss-Feig, Yitzchak Frank, Reymundo Lozano, Puneet Belani, Christina Layton, Bonnie Lerman, Emanuel Frowner, Michael S. Breen, Silvia De Rubeis, Ana Kostic, Alexander Kolevzon, Joseph D. Buxbaum, Paige M. Siper, Dorothy E. Grice
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-17 (2021)
Abstract Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and au
Externí odkaz:
https://doaj.org/article/14213b6357d64ea5a54ac381b9ae7484
Autor:
Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum, Alexander Kolevzon
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-18 (2021)
Abstract FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including
Externí odkaz:
https://doaj.org/article/4152d15d2b82461788917e39deb9a5c4
Autor:
Elizabeth Berry-Kravis, Robyn A. Filipink, Richard E. Frye, Sailaja Golla, Stephanie M. Morris, Howard Andrews, Tse-Hwei Choo, Walter E. Kaufmann, The FORWARD Consortium, Milen Velinov, Amy L. Talboy, Stephanie L. Sherman, Marcy Schuster, Nicole Tartaglia, Dejan B. Budimirovic, Deborah Barbouth, Amy Lightbody, Allan Reiss, Carol M. Delahunty, Randi J. Hagerman, David Hessl, Craig A. Erickson, Gary Feldman, Jonathan D. Picker, Ave M. Lachiewicz, Holly K. Harris, Amy Esler, Patricia A. Evans, Mary Ann Morris, Barbara A. Haas-Givler, Andrea L. Gropman, Ryan S. Uy, Reymundo Lozano, Carrie Buchanan, Jean A. Frazier
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this stu
Externí odkaz:
https://doaj.org/article/2144dddb74154f51a1bf96b7016b2719