Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism / Thomas W FRAZIER in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 5p. Titre : Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : Thomas W FRAZIER, Auteur ; Ritika JAINI, Auteur ; Robyn M. BUSCH, Auteur ; Matthew WOLF, Auteur ; Tammy SADLER, Auteur ; Patricia KLAAS, Auteur ; Antonio Y. HARDAN, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Mustafa SAHIN, Auteur ; Chari ENG, Auteur Article en page(s) : 5p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Behavior  Cognition  Molecular  Pten  Protein Index. décimale : PER Périodiques Résumé : BACKGROUND: PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD, PTEN no-ASD, and idiopathic macrocephalic ASD patients (macro-ASD). Secondarily, associations between protein levels and neurobehavioral functions were examined in the full cohort. METHODS: Patients were recruited at four tertiary medical centers. Peripheral blood-derived protein levels from canonical PTEN pathways (PI3K/AKT and MAPK/ERK) were analyzed using Western blot analyses blinded to genotype and ASD status. Neurobehavioral measures included standardized assessments of global cognitive ability and multiple neurobehavioral domains. Analysis of variance models examined group differences in demographic, neurobehavioral, and protein measures. Bivariate correlations, structural models, and statistical learning procedures estimated associations between molecular and neurobehavioral variables. To complement patient data, Western blots for downstream proteins were generated to evaluate canonical PTEN pathways in the PTEN-m3m4 mouse model. RESULTS: Participants included 61 patients (25 PTEN-ASD, 16 PTEN no-ASD, and 20 macro-ASD). Decreased PTEN and S6 were observed in both PTEN mutation groups. Reductions in MnSOD and increases in P-S6 were observed in ASD groups. Elevated neural P-AKT/AKT and P-S6/S6 from PTEN murine models parallel our patient observations. Patient PTEN and AKT levels were independently associated with global cognitive ability, and p27 expression was associated with frontal sub-cortical functions. As a group, molecular measures added significant predictive value to several neurobehavioral domains over and above PTEN mutation status. LIMITATIONS: Sample sizes were small, precluding within-group analyses. Protein and neurobehavioral data were limited to a single evaluation. A small number of patients were excluded with invalid protein data, and cognitively impaired patients had missing data on some assessments. CONCLUSIONS: Several canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function in PTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT02461446. En ligne : http://dx.doi.org/10.1186/s13229-020-00406-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism [Texte imprimé et/ou numérique] / Thomas W FRAZIER, Auteur ; Ritika JAINI, Auteur ; Robyn M. BUSCH, Auteur ; Matthew WOLF, Auteur ; Tammy SADLER, Auteur ; Patricia KLAAS, Auteur ; Antonio Y. HARDAN, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur ; Mustafa SAHIN, Auteur ; Chari ENG, Auteur . - 5p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 5p. Mots-clés : Autism spectrum disorder  Behavior  Cognition  Molecular  Pten  Protein Index. décimale : PER Périodiques Résumé : BACKGROUND: PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD, PTEN no-ASD, and idiopathic macrocephalic ASD patients (macro-ASD). Secondarily, associations between protein levels and neurobehavioral functions were examined in the full cohort. METHODS: Patients were recruited at four tertiary medical centers. Peripheral blood-derived protein levels from canonical PTEN pathways (PI3K/AKT and MAPK/ERK) were analyzed using Western blot analyses blinded to genotype and ASD status. Neurobehavioral measures included standardized assessments of global cognitive ability and multiple neurobehavioral domains. Analysis of variance models examined group differences in demographic, neurobehavioral, and protein measures. Bivariate correlations, structural models, and statistical learning procedures estimated associations between molecular and neurobehavioral variables. To complement patient data, Western blots for downstream proteins were generated to evaluate canonical PTEN pathways in the PTEN-m3m4 mouse model. RESULTS: Participants included 61 patients (25 PTEN-ASD, 16 PTEN no-ASD, and 20 macro-ASD). Decreased PTEN and S6 were observed in both PTEN mutation groups. Reductions in MnSOD and increases in P-S6 were observed in ASD groups. Elevated neural P-AKT/AKT and P-S6/S6 from PTEN murine models parallel our patient observations. Patient PTEN and AKT levels were independently associated with global cognitive ability, and p27 expression was associated with frontal sub-cortical functions. As a group, molecular measures added significant predictive value to several neurobehavioral domains over and above PTEN mutation status. LIMITATIONS: Sample sizes were small, precluding within-group analyses. Protein and neurobehavioral data were limited to a single evaluation. A small number of patients were excluded with invalid protein data, and cognitively impaired patients had missing data on some assessments. CONCLUSIONS: Several canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function in PTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT02461446. En ligne : http://dx.doi.org/10.1186/s13229-020-00406-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis / Sek KONG in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis Type de document : Texte imprimé et/ou numérique Auteurs : Sek KONG, Auteur ; Mustafa SAHIN, Auteur ; Christin COLLINS, Auteur ; Mary WERTZ, Auteur ; Malcolm CAMPBELL, Auteur ; Jarrett LEECH, Auteur ; Dilja D. KRUEGER, Auteur ; Mark F. BEAR, Auteur ; Louis KUNKEL, Auteur ; Isaac KOHANE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/ mice mirror some, but not all, of the perturbed molecular pathways in the brain. En ligne : http://dx.doi.org/10.1186/2040-2392-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis [Texte imprimé et/ou numérique] / Sek KONG, Auteur ; Mustafa SAHIN, Auteur ; Christin COLLINS, Auteur ; Mary WERTZ, Auteur ; Malcolm CAMPBELL, Auteur ; Jarrett LEECH, Auteur ; Dilja D. KRUEGER, Auteur ; Mark F. BEAR, Auteur ; Louis KUNKEL, Auteur ; Isaac KOHANE, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/ mice mirror some, but not all, of the perturbed molecular pathways in the brain. En ligne : http://dx.doi.org/10.1186/2040-2392-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Early autism symptoms in infants with tuberous sclerosis complex / Nicole M. MCDONALD in Autism Research, 10-12 (December 2017)  

Public ISBD [article]  inAutism Research > 10-12 (December 2017) . - p.1981-1990 Titre : Early autism symptoms in infants with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.1981-1990 Langues : Anglais (eng) Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 [article] Early autism symptoms in infants with tuberous sclerosis complex [Texte imprimé et/ou numérique] / Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur . - p.1981-1990. Langues : Anglais (eng) in Autism Research > 10-12 (December 2017) . - p.1981-1990 Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex / Ian COOK in Journal of Autism and Developmental Disorders, 50-3 (March 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.916-923 Titre : EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex Type de document : Texte imprimé et/ou numérique Auteurs : Ian COOK, Auteur ; Andrew C. WILSON, Auteur ; Jurriaan M. PETERS, Auteur ; Monisha N. GOYAL, Auteur ; E. Martina BEBIN, Auteur ; Hope NORTHRUP, Auteur ; Darcy KRUEGER, Auteur ; Andrew F. LEUCHTER, Auteur ; Mustafa SAHIN, Auteur Article en page(s) : p.916-923 Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Eeg  Tsc Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at younger ages, suggesting this may arise from differences in brain development. These findings suggest that EEG features could enhance the detection of risk for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04326-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419 [article] EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex [Texte imprimé et/ou numérique] / Ian COOK, Auteur ; Andrew C. WILSON, Auteur ; Jurriaan M. PETERS, Auteur ; Monisha N. GOYAL, Auteur ; E. Martina BEBIN, Auteur ; Hope NORTHRUP, Auteur ; Darcy KRUEGER, Auteur ; Andrew F. LEUCHTER, Auteur ; Mustafa SAHIN, Auteur . - p.916-923. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.916-923 Mots-clés : Autism  Biomarkers  Eeg  Tsc Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at younger ages, suggesting this may arise from differences in brain development. These findings suggest that EEG features could enhance the detection of risk for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04326-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419

Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex / Hyuk Jin YUN ; Rutvi VYAS ; Rudolph PIENAAR ; Josephine H. WILSON ; Caroline P. GOSWAMI ; Laura F. BERTO ; Simon K. WARFIELD ; Mustafa SAHIN ; P. Ellen GRANT ; Jurriaan M. PETERS ; Kiho IM in Journal of Autism and Developmental Disorders, 54-8 (August 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3155-3175 Titre : Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex Type de document : Texte imprimé et/ou numérique Auteurs : Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur Article en page(s) : p.3155-3175 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC?+?ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing (TD) controls). A hemispheric asymmetry was noted in surface area and gray matter volume of several cortical language areas in TD, ASD, and TSC-ASD groups, but not in TSC?+?ASD group. TSC?+?ASD group demonstrated increased cortical thickness and curvature values in multiple language regions for both hemispheres, compared to other groups. After controlling for tuber load in the TSC groups, within-group differences stayed the same but the differences between TSC-ASD and TSC?+?ASD were no longer statistically significant. These preliminary findings suggest that comorbid ASD in TSC as well as tuber load in TSC is associated with changes in the morphometry of language regions. Future studies with larger sample sizes will be needed to confirm these findings. En ligne : https://doi.org/10.1007/s10803-023-06004-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex [Texte imprimé et/ou numérique] / Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur . - p.3155-3175. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3155-3175 Index. décimale : PER Périodiques Résumé : A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC?+?ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing (TD) controls). A hemispheric asymmetry was noted in surface area and gray matter volume of several cortical language areas in TD, ASD, and TSC-ASD groups, but not in TSC?+?ASD group. TSC?+?ASD group demonstrated increased cortical thickness and curvature values in multiple language regions for both hemispheres, compared to other groups. After controlling for tuber load in the TSC groups, within-group differences stayed the same but the differences between TSC-ASD and TSC?+?ASD were no longer statistically significant. These preliminary findings suggest that comorbid ASD in TSC as well as tuber load in TSC is associated with changes in the morphometry of language regions. Future studies with larger sample sizes will be needed to confirm these findings. En ligne : https://doi.org/10.1007/s10803-023-06004-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome / Kellie GERGOUDIS in Autism Research, 13-8 (August 2020)  

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Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex / Banu AHTAM in Journal of Autism and Developmental Disorders, 54-3 (March 2024)  

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Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex / Wardiya AFSHAR SABER in Molecular Autism, 11 (2020)  

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Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability / Thomas W. FRAZIER ; Robyn M. BUSCH ; Patricia KLAAS ; Katherine Lachlan ; Shafali JESTE ; Alexander KOLEVZON ; Eva LOTH ; Jacqueline Harris ; Tom Pepper ; Kristin Anthony ; J. Michael Graglia ; Kathryn Helde ; Christal Delagrammatikas ; Sandra Bedrosian-Sermone ; Constance Smith-Hicks ; Mustafa SAHIN ; Eric A. YOUNGSTROM ; Charis ENG ; Lacey CHETCUTI ; Antonio Y. HARDAN ; Mirko ULJAREVIC in Autism Research, 18-2 (February 2025)  

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