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Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.
Mariano V, Kanellopoulos AK, Ricci C, Di Marino D, Borrie SC, Dupraz S, Bradke F, Achsel T, Legius E, Odent S, Billuart P, Bienvenu T, Bagni C. Mariano V, et al. Biol Psychiatry. 2024 Jan 15;95(2):161-174. doi: 10.1016/j.biopsych.2023.08.027. Epub 2023 Sep 11. Biol Psychiatry. 2024. PMID: 37704042 Free article.
Recent evidence suggests that dysfunctional CYFIP1 (cytoplasmic FMR1 interacting protein 1) contributes to the clinical phenotypes observed in individuals with 15q11.2 deletion/duplication syndrome. ...Molecular and cellular analyses in skin fibroblasts from one proband sh …
Recent evidence suggests that dysfunctional CYFIP1 (cytoplasmic FMR1 interacting protein 1) contributes to the clinical phenotypes observ
What happens in the brain of schizophrenia patients?: an investigation from the viewpoint of neuropathology.
Iritani S. Iritani S. Nagoya J Med Sci. 2013 Feb;75(1-2):11-28. Nagoya J Med Sci. 2013. PMID: 23544264 Free PMC article. Review.
., have been used in many reports of cases of schizophrenia with abnormal brain morphology, thus generating renewed interest in developments within brain tissue and leading to new neuropathological studies. There are now many reports in which, in addition to …
., have been used in many reports of cases of schizophrenia with abnormal brain morphology, thus generating renewed int …
TSPO expression and brain structure in the psychosis spectrum.
Hafizi S, Guma E, Koppel A, Da Silva T, Kiang M, Houle S, Wilson AA, Rusjan PM, Chakravarty MM, Mizrahi R. Hafizi S, et al. Brain Behav Immun. 2018 Nov;74:79-85. doi: 10.1016/j.bbi.2018.06.009. Epub 2018 Jun 12. Brain Behav Immun. 2018. PMID: 29906515 Free PMC article.
Psychosis is associated with abnormal structural changes in the brain including decreased regional brain volumes and abnormal brain morphology. However, the underlying causes of these structural abnormalities are less understood. ...A significant [(18)F]FEPPA …
Psychosis is associated with abnormal structural changes in the brain including decreased regional brain volumes and abnormal brai
Brain Morphology in Patients with Genetic Generalized Epilepsy: Its Heterogeneity among Subsyndromes.
Park KM, Kim SE, Lee BI, Hur YJ. Park KM, et al. Eur Neurol. 2018;80(5-6):236-244. doi: 10.1159/000496698. Epub 2019 Jan 18. Eur Neurol. 2018. PMID: 30661063
RESULTS: We found significantly widespread alterations of brain morphology, including cortical thickness and volumes in several regions in the patients with GGE compared to healthy controls. In addition, we observed significant differences in alterations of cortical thickn …
RESULTS: We found significantly widespread alterations of brain morphology, including cortical thickness and volumes in several regions in t …
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH. Wu WC, et al. Seizure. 2024 Mar;116:119-125. doi: 10.1016/j.seizure.2023.10.010. Epub 2023 Oct 27. Seizure. 2024. PMID: 37903666 Free article.
OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. ...These variants have no or low frequencies in the Genome Aggregation Database. All the missense variants were pre
OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are acc …
Investigation of structural brain correlates of neurological soft signs in individuals at ultra-high risk for psychosis.
Wang Y, Braam EE, Wannan CMJ, Van Rheenen TE, Chan RCK, Nelson B, McGorry PD, Yung AR, Lin A, Brewer WJ, Koutsogiannis J, Wood SJ, Velakoulis D, Pantelis C, Cropley VL. Wang Y, et al. Eur Arch Psychiatry Clin Neurosci. 2021 Dec;271(8):1475-1485. doi: 10.1007/s00406-021-01300-9. Epub 2021 Aug 31. Eur Arch Psychiatry Clin Neurosci. 2021. PMID: 34467451
Increased severity of neurological soft signs (NSS) in schizophrenia have been associated with abnormal brain morphology in cerebello-thalamo-cortical structures, but it is unclear whether similar structures underlie NSS prior to the onset of psychosis. ...Us …
Increased severity of neurological soft signs (NSS) in schizophrenia have been associated with abnormal brain morphology
Brain morphology, dopamine, and eye-tracking abnormalities in first-episode schizophrenia. Prevalence and clinical correlates.
Lieberman JA, Jody D, Alvir JM, Ashtari M, Levy DL, Bogerts B, Degreef G, Mayerhoff DI, Cooper T. Lieberman JA, et al. Arch Gen Psychiatry. 1993 May;50(5):357-68. doi: 10.1001/archpsyc.1993.01820170035005. Arch Gen Psychiatry. 1993. PMID: 8489325
These include psychotogenic response to methylphenidate (59%), abnormal growth hormone (GH) secretion (50%), abnormal brain morphology (31%), and eye-tracking dysfunction (51%). An association of pathobiologic variables with increased symptom severity and ear …
These include psychotogenic response to methylphenidate (59%), abnormal growth hormone (GH) secretion (50%), abnormal brain
Gaussian process uncertainty in age estimation as a measure of brain abnormality.
Gutierrez Becker B, Klein T, Wachinger C; Alzheimer’s Disease Neuroimaging Initiative and the Australian Imaging Biomarkers and Lifestyle flagship study of ageing. Gutierrez Becker B, et al. Neuroimage. 2018 Jul 15;175:246-258. doi: 10.1016/j.neuroimage.2018.03.075. Epub 2018 Apr 5. Neuroimage. 2018. PMID: 29627589
Multivariate regression models for age estimation are a powerful tool for assessing abnormal brain morphology associated to neuropathology. Age prediction models are built on cohorts of healthy subjects and are built to reflect normal aging patterns. T …
Multivariate regression models for age estimation are a powerful tool for assessing abnormal brain morphology associate …