All Relations between Neurodevelopmental Disorders and cerebellum

Publication Sentence Publish Date Extraction Date Species
Cécile Louveau, Pierre Ellul, Anton Iftimovici, Julien Dubreucq, Charles Laidi, Quentin Leyrolle, Diane Purper-Ouakil, Sebastien Jacquemont, Stanislas Lyonnet, Catherine Barthélémy, Marie-Odile Krebs, Jing Bai, Paul Olivier, Boris Chaumett. Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications. Journal of neural transmission (Vienna, Austria : 1996). 2023-01-31. PMID:36719463. classifications in psychiatric disorders were asked: mapping the effect of genes on cognition and autism risk, epigenetics and symptomatic trajectory in neurodevelopmental disorders, the autism-schizophrenia continuum in two examples: minor neurological signs and eeg microstates, the cerebellum in schizophrenia and autism: from imaging to intervention perspectives. 2023-01-31 2023-08-14 human
Laura Hecher, Frederike L Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsch. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms. Neurogenetics. 2023-01-18. PMID:36653678. biallelic inpp4a truncating variants cause a spectrum of neurodevelopmental disorders ranging from moderate intellectual disability to postnatal microcephaly with developmental and epileptic encephalopathy and (ponto)cerebellar hypoplasia. 2023-01-18 2023-08-14 Not clear
Elizabeth W Pang, Chris Hammill, Margot J Taylor, Jamie Near, Russell Schachar, Jennifer Crosbie, Paul D Arnold, Evdokia Anagnostou, Jason P Lerc. Cerebellar gamma-aminobutyric acid: Investigation of group effects in neurodevelopmental disorders. Autism research : official journal of the International Society for Autism Research. 2023-01-10. PMID:36626308. cerebellar gamma-aminobutyric acid: investigation of group effects in neurodevelopmental disorders. 2023-01-10 2023-08-14 Not clear
Lara Fernandez, Alex Burmester, Juan Dominguez Duque, Timothy J Silk, Christian E Hyde, Melissa Kirkovski, Peter G Enticott, Karen Caeyenbergh. Examination of Cerebellar Grey-Matter Volume in Children with Neurodevelopmental Disorders: a Coordinated Analysis Using the ACAPULCO Algorithm. Cerebellum (London, England). 2022-12-09. PMID:36482028. examination of cerebellar grey-matter volume in children with neurodevelopmental disorders: a coordinated analysis using the acapulco algorithm. 2022-12-09 2023-08-14 Not clear
Lara Fernandez, Alex Burmester, Juan Dominguez Duque, Timothy J Silk, Christian E Hyde, Melissa Kirkovski, Peter G Enticott, Karen Caeyenbergh. Examination of Cerebellar Grey-Matter Volume in Children with Neurodevelopmental Disorders: a Coordinated Analysis Using the ACAPULCO Algorithm. Cerebellum (London, England). 2022-12-09. PMID:36482028. however, it is not clear if common cerebellar regions are affected in each neurodevelopmental disorder and whether cerebellar morphological changes reflect a generic developmental vulnerability, or disorder-specific characteristic. 2022-12-09 2023-08-14 Not clear
Deniz A Madencioglu, Karina A Kruth, Thomas H Wassink, Vincent A Magnotta, John A Wemmie, Aislinn J William. Modeling Human Cerebellar Development In Vitro in 2D Structure. Journal of visualized experiments : JoVE. issue 187. 2022-10-03. PMID:36190246. in addition, disruption in cerebellar development has been implicated in many neurodevelopmental disorders, including autism, attention deficit-hyperactivity disorder (adhd), and schizophrenia. 2022-10-03 2023-08-14 human
Deniz A Madencioglu, Karina A Kruth, Thomas H Wassink, Vincent A Magnotta, John A Wemmie, Aislinn J William. Modeling Human Cerebellar Development In Vitro in 2D Structure. Journal of visualized experiments : JoVE. issue 187. 2022-10-03. PMID:36190246. investigations of cerebellar development in humans have previously only been possible through post-mortem studies or neuroimaging, yet these methods are not sufficient for understanding the molecular and cellular changes occurring in vivo during early development, which is when many neurodevelopmental disorders originate. 2022-10-03 2023-08-14 human
Eric London, Rubin Jure, Patricia Gaspar, Luis Puelles, Randy J Kulesz. Editorial: The role of the brainstem and cerebellum in autism and related neurodevelopmental disorders (DD). Frontiers in integrative neuroscience. vol 16. 2022-09-19. PMID:36118119. editorial: the role of the brainstem and cerebellum in autism and related neurodevelopmental disorders (dd). 2022-09-19 2023-08-14 Not clear
Jeong Ho Ahn, Seung Hwan Oh, Ji Kyoung Park, Kwang Hoon Kim, Jeong Eun Lee, Woo Yeong Chung, Keun Soo Lee, Go Hun Seo, Bo Lyun Le. A Novel Frameshift Annals of clinical and laboratory science. vol 52. issue 3. 2022-07-01. PMID:35777792. a novel frameshift pontocerebellar hypoplasia is a heterogeneous group of rare genetic neurodevelopmental disorders marked by early degeneration of the cerebellum and brainstem. 2022-07-01 2023-08-14 Not clear
David D Bushart, Vikram G Shakkotta. Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies. Frontiers in systems neuroscience. vol 16. 2022-06-27. PMID:35757096. in the last decade, however, mutations in ion channel genes have been demonstrated to result in progressive neurodegenerative and neurodevelopmental disorders in humans, particularly with ion channels that are enriched in the cerebellum. 2022-06-27 2023-08-14 mouse
Selin Sevinç, Aslı İnci, Fatih S Ezgü, Fatma T Eminoğl. A Patient with a Novel Molecular syndromology. vol 13. issue 3. 2022-06-16. PMID:35707589. a patient with a novel pontocerebellar hypoplasia (pch) is a heterogeneous neurodevelopmental disorder that is characterized by decreased brainstem and cerebellum volume. 2022-06-16 2023-08-14 Not clear
Beena D Agarwal, Satya Mohapatra, Sumedha Singh, Vijay Guduru, Soumya R Naya. Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress. Cureus. vol 14. issue 5. 2022-06-14. PMID:35698700. joubert syndrome (js) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. 2022-06-14 2023-08-14 Not clear
Daisuke Uda, Hidehito Kondo, Koichi Tanda, Zenro Kizaki, Masashi Nishida, Hongmei Dai, Masayuki Ito. Two siblings showing a mild phenotype of Joubert syndrome with a specific CEP290 variant. Neuropediatrics. 2022-06-01. PMID:35642300. joubert syndrome (js) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (mts), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. 2022-06-01 2023-08-13 Not clear
Parthiv Haldipur, Kathleen J Millen, Kimberly A Aldinge. Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders. Annual review of neuroscience. 2022-04-20. PMID:35440142. human cerebellar development and transcriptomics: implications for neurodevelopmental disorders. 2022-04-20 2023-08-13 mouse
Andrea Accogli, Shenzhao Lu, Ilaria Musante, Paolo Scudieri, Jill A Rosenfeld, Mariasavina Severino, Simona Baldassari, Michele Iacomino, Antonella Riva, Ganna Balagura, Gianluca Piccolo, Carlo Minetti, Denis Roberto, Fan Xia, Razaali Razak, Emily Lawrence, Mohamed Hussein, Emmanuel Yih-Herng Chang, Michelle Holick, Elisa Calì, Emanuela Aliberto, Rosalba De-Sarro, Antonio Gambardella, Undiagnosed Diseases Network, SYNaPS Study Group, Lisa Emrick, Peter J A McCaffery, Margaret Clagett-Dame, Paul C Marcogliese, Hugo J Bellen, Seema R Lalani, Federico Zara, Pasquale Striano, Vincenzo Salpietr. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum (London, England). 2022-02-26. PMID:35218524. in summary, our results unveil a novel human neurodevelopmental disorder due to genetic loss of nav2, highlighting a critical conserved role of the nav2 gene in brain and cerebellar development across species. 2022-02-26 2023-08-13 mouse
Serena Camuso, Piergiorgio La Rosa, Maria Teresa Fiorenza, Sonia Canterin. Pleiotropic effects of BDNF on the cerebellum and hippocampus: Implications for neurodevelopmental disorders. Neurobiology of disease. 2022-01-02. PMID:34974125. pleiotropic effects of bdnf on the cerebellum and hippocampus: implications for neurodevelopmental disorders. 2022-01-02 2023-08-13 Not clear
Nana J Okada, Janelle Liu, Tawny Tsang, Erin Nosco, Nicole M McDonald, Kaitlin K Cummings, Jiwon Jung, Genevieve Patterson, Susan Y Bookheimer, Shulamite A Green, Shafali S Jeste, Mirella Daprett. Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism. Journal of child psychology and psychiatry, and allied disciplines. 2021-12-09. PMID:34882790. indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (asd), a neurodevelopmental disorder characterized by socio-communicative impairments. 2021-12-09 2023-08-13 Not clear
Purvi Majethia, Michelle C Do Rosario, Parneet Kaur, Karanvir, Raagul Shankar, Suvasini Sharma, Shahyan Siddiqui, Anju Shukl. Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Annals of human genetics. 2021-12-08. PMID:34878169. trappc4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (mim# 618741) is a recently described trappopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. 2021-12-08 2023-08-13 Not clear
Masashi Nishikawa, Hidenori Ito, Mariko Noda, Nanako Hamada, Hidenori Tabata, Koh-Ichi Nagat. Expression analyses of Rac3, a Rho family small GTPase, during mouse brain development. Developmental neuroscience. 2021-11-28. PMID:34839287. the rac3 gene abnormalities have been shown to cause neurodevelopmental disorders with structural brain anomalies, including polymicrogyria/dysgyria, callosal abnormalities, brainstem anomalies, and cerebellar dysplasia. 2021-11-28 2023-08-13 mouse
Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Alessandra Murgia, Stefano D'Arrigo, Elisa Granocchio, Luisa Chiapparini, Chiara Pantaleoni, Silvia Esposit. A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics. vol 52. issue 6. 2021-11-19. PMID:33853164. a missense de novo variant in the cask-interactor kirrel3 gene leading to neurodevelopmental disorder with mild cerebellar hypoplasia. 2021-11-19 2023-08-13 Not clear