| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Felipe Morgado, Marlee M Vandewouw, Christopher Hammill, Elizabeth Kelley, Jennifer Crosbie, Russell Schachar, Muhammad Ayub, Robert Nicolson, Stelios Georgiades, Paul Arnold, Alana Iaboni, Azadeh Kushki, Margot J Taylor, Evdokia Anagnostou, Jason P Lerc. Behaviour-correlated profiles of cerebellar-cerebral functional connectivity observed in independent neurodevelopmental disorder cohorts. Translational psychiatry. vol 14. issue 1. 2024-04-03. PMID:38570480. |
the cerebellum, through its connectivity with the cerebral cortex, plays an integral role in regulating cognitive and affective processes, and its dysregulation can result in neurodevelopmental disorder (ndd)-related behavioural deficits. |
2024-04-03 |
2024-04-06 |
human |
| Charles H Nelson, Udai B Pande. Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder. Neural regeneration research. vol 19. issue 11. 2024-03-25. PMID:38526274. |
the recent identification of a neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (nedcam) has resulted in an increased interest in gemin5, a multifunction rna-binding protein. |
2024-03-25 |
2024-03-27 |
Not clear |
| Davide Politano, Fulvio D'Abrusco, Ludovica Pasca, Francesca Ferraro, Simone Gana, Jessica Garau, Martina Paola Zanaboni, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis, Romina Romaniell. Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature. American journal of medical genetics. Part A. 2024-02-07. PMID:38326731. |
cerebellar heterotopia in an 11-year-old child with kdm6b-related neurodevelopmental disorder: a case report and review of the literature. |
2024-02-07 |
2024-02-10 |
Not clear |
| Engy A Ashaat, Hoda A Ahmed, Nesma M Elaraby, Alaaeldin Fayez, Ammal M Metwally, Mona K Mekkawy, Dalia Farouk Hussen, Neveen A Ashaat, Rasha M Elhossini, Heba Ahmed ElAwady, Randa H A Abdelgawad, Mona El Gammal, Mohamed Ahmed Al Kersh, Dina Amin Sale. The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy. Molecular neurobiology. 2023-12-28. PMID:38153683. |
in this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders. |
2023-12-28 |
2023-12-30 |
Not clear |
| Sabina Couto-Ovejero, Jingjing Ye, Peter C Kind, Sally M Till, Thomas C Watso. Cerebellar contributions to fear-based emotional processing: relevance to understanding the neural circuits involved in autism. Frontiers in systems neuroscience. vol 17. 2023-12-11. PMID:38075533. |
from a clinical perspective, cerebellar abnormalities have been consistently linked to neurodevelopmental disorders, including autism. |
2023-12-11 |
2023-12-17 |
human |
| Stephanie Rudolph, Aleksandra Badura, Stefano Lutzu, Salil Saurav Pathak, Andreas Thieme, Jessica L Verpeut, Mark J Wagner, Yi-Mei Yang, Diasynou Fioravant. Cognitive-Affective Functions of the Cerebellum. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 43. issue 45. 2023-11-08. PMID:37940582. |
perturbations in cerebellar development and function have been implicated in various neurodevelopmental disorders, including autism spectrum disorder and attention deficit hyperactivity disorder. |
2023-11-08 |
2023-11-20 |
Not clear |
| Seth A Ament, Marcia Cortes-Gutierrez, Brian R Herb, Evelina Mocci, Carlo Colantuoni, Margaret M McCarth. A single-cell genomic atlas for maturation of the human cerebellum during early childhood. Science translational medicine. 2023-10-12. PMID:37824600. |
the cerebellum undergoes protracted postnatal maturation, making it especially susceptible to perturbations contributing to the risk of developing neurodevelopmental disorders. |
2023-10-12 |
2023-10-15 |
human |
| Smitha Ka, Despina Stavrinos, Haley B Holm, Sheeba Arnold Anteraper, Rajesh K Kan. Alterations of Functional Connectivity in Autism and ADHD Revealed by Multi-Voxel Pattern Analysis. Brain connectivity. 2023-07-31. PMID:37522594. |
conclusions the study characterizes the rsfc profile of cerebellum with key cortical areas in autism and adhd, and emphasizes the importance of studying the role functional connectivity of cerebellum in neurodevelopmental disorders. |
2023-07-31 |
2023-08-14 |
Not clear |
| Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Khan Sheraz, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Aslanger Ayça Dilruba, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severin. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain : a journal of neurology. 2023-07-30. PMID:37517035. |
biallelic med27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia. |
2023-07-30 |
2023-08-14 |
Not clear |
| Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne-Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piar. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG. 2023-06-21. PMID:37344571. |
brat1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (rmfsl), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (nedcas). |
2023-06-21 |
2023-08-14 |
Not clear |
| Yanpei Wang, Leilei Ma, Rui Chen, Ningyu Liu, Haibo Zhang, Yuanyuan Li, Jiali Wang, Mingming Hu, Gai Zhao, Weiwei Men, Shuping Tan, Jia-Hong Gao, Shaozheng Qin, Yong He, Qi Dong, Sha Ta. Emotional and behavioral problems change the development of cerebellar gray matter volume, thickness, and surface area from childhood to adolescence: A longitudinal cohort study. CNS neuroscience & therapeutics. 2023-06-08. PMID:37287420. |
increasing evidence indicates that major neurodevelopmental disorders have potential links to abnormal cerebellar development. |
2023-06-08 |
2023-08-14 |
Not clear |
| Pia Boxy, Anders Nykjær, Lilian Kisisw. Building better brains: the pleiotropic function of neurotrophic factors in postnatal cerebellar development. Frontiers in molecular neuroscience. vol 16. 2023-05-30. PMID:37251644. |
as a result, impairments in the cerebellar architecture and circuitry lead to a vast array of neuropsychiatric and neurodevelopmental disorders. |
2023-05-30 |
2023-08-14 |
Not clear |
| Qi Guo, Emi Kouyama-Suzuki, Yoshinori Shirai, Xueshan Cao, Toru Yanagawa, Takuma Mori, Katsuhiko Tabuch. Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome. Cells. vol 12. issue 8. 2023-05-16. PMID:37190086. |
microcephaly with pontine and cerebellar hypoplasia (micpch) syndrome is a neurodevelopmental disorder caused by the deficiency of the x-chromosomal gene cask. |
2023-05-16 |
2023-08-14 |
mouse |
| Robert Puls, Clarissa von Haefen, Christoph Bührer, Stefanie Endesfelde. Dexmedetomidine Protects Cerebellar Neurons against Hyperoxia-Induced Oxidative Stress and Apoptosis in the Juvenile Rat. International journal of molecular sciences. vol 24. issue 9. 2023-05-14. PMID:37175511. |
impairment of cerebellar functions during cognitive development could be a crucial factor in neurodevelopmental disorders of prematurity. |
2023-05-14 |
2023-08-14 |
rat |
| Robert Puls, Clarissa von Haefen, Christoph Bührer, Stefanie Endesfelde. Protective Effect of Dexmedetomidine against Hyperoxia-Damaged Cerebellar Neurodevelopment in the Juvenile Rat. Antioxidants (Basel, Switzerland). vol 12. issue 4. 2023-04-28. PMID:37107355. |
impaired cerebellar development of premature infants and the associated impairment of cerebellar functions in cognitive development could be crucial factors for neurodevelopmental disorders. |
2023-04-28 |
2023-08-14 |
rat |
| María Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madriga. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes. vol 14. issue 4. 2023-04-28. PMID:37107571. |
neurological disorders (nd) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, parkinson's disease, or epilepsies. |
2023-04-28 |
2023-08-14 |
Not clear |
| Elena Gardella, Roberto Michelucci, Hanne M Christensen, Christina D Fenger, Chiara Reale, Patrizia Riguzzi, Elena Pasini, Luca Albini-Riccioli, Valentina Papa, Maria Pia Foschini, Giovanna Cenacchi, Francesca Furia, Dragan Marjanovic, Trine B Hammer, Rikke S Møller, Guido Rubbol. IRF2BPL as a novel causative gene for Progressive Myoclonus Epilepsy. Epilepsia. 2023-04-28. PMID:37114479. |
irf2bpl has recently been described as a novel cause of neurodevelopmental disorders with multi-systemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. |
2023-04-28 |
2023-08-14 |
human |
| Svethna Ribeiro, Rachel M Sherrar. Cerebellum and neurodevelopmental disorders: RORα is a unifying force. Frontiers in cellular neuroscience. vol 17. 2023-04-17. PMID:37066074. |
cerebellum and neurodevelopmental disorders: rorα is a unifying force. |
2023-04-17 |
2023-08-14 |
human |
| Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymon. A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. Genes. vol 14. issue 3. 2023-03-29. PMID:36980979. |
several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (id), and motor dysfunction. |
2023-03-29 |
2023-08-14 |
Not clear |
| Ya Wang, Liangjun Chen, Zhengwang Wu, Tengfei Li, Yue Sun, Jiale Cheng, Hongtu Zhu, Weili Lin, Li Wang, Wenhua Huang, Gang L. Longitudinal development of the cerebellum in human infants during the first 800 days. Cell reports. vol 42. issue 4. 2023-03-25. PMID:36964904. |
revealing early dynamic development of the normative cerebellar structures contributes to exploring cerebellum-related neurodevelopmental disorders. |
2023-03-25 |
2023-08-14 |
human |