Literature DB >> 35499779

Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.

Kang Yang1, Yi-Heng Zeng1, Yu-Sen Qiu1, Feng Lin1, Hai-Zhu Chen1, Ming Jin1, Long Chen1, Fu-Ze Zheng1, Yuan-Liang Ding1, Chun-Yan Cao2, Min-Ting Lin1, Wan-Jin Chen1, Zhi-Qiang Wang3, Ning Wang4.   

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Year:  2022        PMID： 35499779     DOI： 10.1007/s00401-022-02422-7

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   15.887


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  2 in total

1.  Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.

Authors:  Claudia Di Blasi; Behzad Moghadaszadeh; Claudia Ciano; Tiziana Negri; Alessio Giavazzi; Ferdinando Cornelio; Lucia Morandi; Marina Mora
Journal:  Ann Neurol       Date:  2004-07       Impact factor: 10.422

2.  Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.

Authors:  Alessandra Ruggieri; Sergey Naumenko; Martin A Smith; Eliana Iannibelli; Flavia Blasevich; Cinzia Bragato; Sara Gibertini; Kirston Barton; Matthias Vorgerd; Katrin Marcus; Peixiang Wang; Lorenzo Maggi; Renato Mantegazza; James J Dowling; Rudolf A Kley; Marina Mora; Berge A Minassian
Journal:  Acta Neuropathol       Date:  2020-05-25       Impact factor: 17.088
  2 in total

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