机译：早发性Biallelic SQSTM1突变,易变地进行性神经退化
Univ Exeter, Sch Med, RILD, Royal Devon & Exeter Hosp, Exeter, Devon, England;
Ist Super Sanita, Confocal Microscopy Unit, Core Facil, Rome, Italy;
Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, ItalyKianpars, Narges Med Genet & Prenatal Diag Lab, Ahwaz, IranIst Super Sanita, Dept Oncol & Mol Med, Rome, ItalyUniv Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli, Inst Neurol, Rome, ItalyShahid Sadoughi Univ Med Sci, Res & Clin Ctr Infertil, Yazd, IranAhvaz Jundishapur Univ Med Sci, Dept Paediat Neurol, Golestan Med Educ & Res Ctr, Ahwaz, IranKerman Univ Med Sci, Dept Neurol, Kerman, IranUniv Sapienza, Dept Expt Med, Rome, ItalyDuke Univ, Sch Med, Ctr Human Dis Modeling, Durham, NC USAShahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahwaz, IranShahid Sadoughi Univ Med Sci, Yazd Reprod Sci Inst, Med Genet Res Ctr, Yazd, IranSt Georges Univ London, Genet & Mol Cell Sci Res Ctr, London, EnglandUniv Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli, Inst Nucl Med, Rome, Italy;
Sequestosome-1 Protein; Nerve Degeneration; Mutation;
机译：Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
机译：Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
机译：Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy
