All Relations between cerebellum and Neurodevelopmental Disorders

Reference Sentence Publish Date Extraction Date Species
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 vol issue 2022 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. 2022-01-07 2022-01-09 Not clear
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza M Valente, Vincenzo Leuzz. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation vol 43 issue 1 2021 34747546 Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder. 2021-12-31 2022-01-08 Not clear
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza M Valente, Vincenzo Leuzz. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation vol 43 issue 1 2021 34747546 Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. 2021-12-31 2022-01-08 Not clear
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