Accès ouvert
2024
article
OpenAlex
Marialuisa Gandolfi, Angela Sandri, Sara Mariotto, Stefano Tamburin et autres
BACKGROUND AND AIMS: Functional motor disorders (FMD) present a prevalent, yet misunderstood spectrum of neurological conditions characterized by abnormal movements (i.e., functional limb weakness, tremor, dystonia, gait impairments), leading to substantial disability and diminished quality of life. Despite their high prevalence, FMD …
it
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2022
article
OpenAlex
Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang et autres
Abstract To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide …
us, cn, me
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Accès ouvert
2020
article
OpenAlex
Éric Fombonne, Robin P. Goin‐Kochel, Brian J. O’Roak, Leonard Abbeduto et autres
us
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Accès ouvert
2019
article
OpenAlex
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner et autres
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the …
us
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Accès ouvert
2019
preprint
OpenAlex
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner et autres
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete …
us, dk, au, cz
(code pays fourni par la source)
Accès ouvert
2018
article
OpenAlex
Pamela Feliciano, Amy M. Daniels, LeeAnne Green Snyder, Amy L. Beaumont et autres