A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses.

Tian, Wotu; Yao, Li; Shi, Guochao; Dai, Ranran; Cao, Li

Tian, Wotu; Yao, Li; Shi, Guochao; Dai, Ranran; Cao, Li.

Afiliação

Tian W; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Yao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Shi G; Suzhou Hospital of Anhui Medical University, Suzhou, 234000, China.
Dai R; Department of Respiratory and Critical Care Medicine, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Cao L; Department of Respiratory and Critical Care Medicine, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. drr11154@rjh.com.cn.

Acta Neurol Belg ; 124(2): 661-663, 2024 Apr.

Article em En | MEDLINE | ID: mdl-37668947

Assuntos

Hipoventilação; Transtornos Parkinsonianos; Proteinopatias TDP-43; Humanos; RNA Mensageiro/genética; Hipoventilação/genética; Transtornos Parkinsonianos/genética; Depressão/genética; Mutação/genética; Complexo Dinactina/genética

Palavras-chave

Depression; Hypoventilation; Insomnia; Parkinsonism; Perry syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Parkinsonianos / Proteinopatias TDP-43 / Hipoventilação Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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