SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan

Abstract Background The copy number status (CNS) of the survival motor neuron (SMN) gene may influence the risk and prognosis of amyotrophic lateral sclerosis (ALS) and lower motor neuron diseases (LMND) other than spinal muscular atrophy (SMA). However, previous studies of this association, mainly...

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Principais autores:	Tomohiko Ishihara, Akihide Koyama, Naoki Atsuta, Mari Tada, Saori Toyoda, Kenta Kashiwagi, Sachiko Hirokawa, Yuya Hatano, Akio Yokoseki, Ryoichi Nakamura, Genki Tohnai, Yuishin Izumi, Ryuji Kaji, Mitsuya Morita, Asako Tamura, Osamu Kano, Masashi Aoki, Satoshi Kuwabara, Akiyoshi Kakita, Gen Sobue, Osamu Onodera
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BMC 2024-11-01
סדרה:	BMC Medical Genomics
נושאים:	ALS SMA LMND SMN Copy number status
גישה מקוונת:	https://doi.org/10.1186/s12920-024-02026-y
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