扩大与FLNC突变相关的中枢神经系统疾病谱。 - Suppr | 超能文献

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1

Expanding the central nervous system disease spectrum associated with FLNC mutation.扩大与FLNC突变相关的中枢神经系统疾病谱。

Muscle Nerve. 2019 May;59(5):E33-E37. doi: 10.1002/mus.26443. Epub 2019 Feb 20.

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Expanding the phenotype of filamin-C-related myofibrillar myopathy.扩大与细丝蛋白C相关的肌原纤维肌病的表型。

Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

3

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.纤连蛋白 C 基因突变导致一种不典型的杆状体肌病伴环形纤维。

J Neuropathol Exp Neurol. 2020 Aug 1;79(8):908-914. doi: 10.1093/jnen/nlaa052.

4

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.香港中文人群中由 FLNC 相关肌原纤维肌病的创始变体 c.8129G>A 引起的临床和病理特征。

Clin Genet. 2020 May;97(5):747-757. doi: 10.1111/cge.13715. Epub 2020 Feb 23.

5

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.一个位于细丝蛋白 C 蛋白氨基端 actin 结合域的新型突变导致远端肌纤维肌病。

J Neurol Sci. 2019 Mar 15;398:75-78. doi: 10.1016/j.jns.2019.01.019. Epub 2019 Jan 17.

6

A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.一种新的 FLNC 二聚化结构域无义突变导致轻度肌纤维原肌病。

Clin Neurol Neurosurg. 2022 Oct;221:107386. doi: 10.1016/j.clineuro.2022.107386. Epub 2022 Jul 23.

7

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.致同态表达的肌原纤维肌病相关 p.W2710X 细丝蛋白 C 变体揭示了肌节损伤形成的主要病理机制。

Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9.

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A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.病例报告：细丝蛋白C基因第18外显子杂合缺失（2791_2805 del）在中国一个家系中导致细丝蛋白C相关的肌原纤维肌病。

BMC Neurol. 2018 Jun 4;18(1):79. doi: 10.1186/s12883-018-1078-4.

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FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.腓骨肌萎缩症相关肌原纤维肌病由自噬受损和蛋白质不足引起。

Hum Mol Genet. 2016 Jun 1;25(11):2131-2142. doi: 10.1093/hmg/ddw080. Epub 2016 Mar 11.

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Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.肌联蛋白 c.179C>T（p.Ser60Phe）突变纯合导致更为严重和近端型肌营养不良症。

J Neuromuscul Dis. 2016 May 27;3(2):275-281. doi: 10.3233/JND-150143.

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Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.儿童期表现为限制型心肌病和肌病的细丝蛋白病的罕见临床表型。

Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5.

2

Identification of tumor antigens and immune subtypes in lower grade gliomas for mRNA vaccine development.为 mRNA 疫苗开发鉴定低级别胶质瘤中的肿瘤抗原和免疫亚型。

J Transl Med. 2021 Aug 17;19(1):352. doi: 10.1186/s12967-021-03014-x.

3

Structure and Function of Filamin C in the Muscle Z-Disc.