Liangliang Qiu
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View article: From early symptoms to EEG silence: tracking the neurodegenerative course of sporadic Creutzfeldt-Jakob disease
From early symptoms to EEG silence: tracking the neurodegenerative course of sporadic Creutzfeldt-Jakob disease Open
Background Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal neurodegenerative disorder. Early diagnosis remains challenging due to nonspecific initial symptoms. Although electroencephalography (EEG) is a key dia…
View article: Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy
Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy Open
Background Respiratory involvement is a comorbidity that should not be overlooked in clinical practice in facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a reported association for severe disease outcomes such as wheelchair dep…
View article: Feasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial
Feasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial Open
Introduction Spinocerebellar ataxia type 3 (SCA3) poses challenges for patients due to motor dysfunctions and non-motor symptoms (NMS), such as sleep disorders, cognitive deficits, and mood disturbances. These issues significantly impact t…
View article: Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3
Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3 Open
Objective Fatigue is a significant symptom in patients with spinocerebellar ataxia type 3 (SCA3). This study explores the role of fatigue in SCA3, examining its impact on quality of life and its potential as an indicator of disease progres…
View article: Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3
Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3 Open
Background The regulatory role of the apolipoprotein E ( APOE ) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive an…
View article: Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia
Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia Open
SCA3-SP differs from SCA3-NSP in clinical features, multiparametric brain imaging findings, and longitudinal follow-up progression.
View article: Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy
Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy Open
4q35 distal D4Z4 hypomethylation is correlated with disease severity and progression to lower extremity involvement.
View article: The China facioscapulohumeral muscular dystrophy type 1 (FSHD1) registry: rationale for and description of a nationwide, observational cohort study
The China facioscapulohumeral muscular dystrophy type 1 (FSHD1) registry: rationale for and description of a nationwide, observational cohort study Open
Background: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a rare, hereditary, and progressive muscular dystrophy characterized by weakness and wasting of the facial (facio-) and shoulder-upper arm (scapulo-humeral-) muscles. The…
View article: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population Open
We have read with great interest the article on the predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy, published recently in Brain by Katz and colleagues.1 They reported a relatively high disability …
View article: Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1
Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1 Open
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. FSHD type 1 (FSHD1) is caused by multicopy contraction of D4Z4 repeats on chromosome 4q35. Human induced pluripotent stem cell (hiPSC) lines serve …
View article: Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study
Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study Open
View article: Research of Microbial-gel Combined Flooding Technology of Ba19 Block in Baolige Oilfield
Research of Microbial-gel Combined Flooding Technology of Ba19 Block in Baolige Oilfield Open
Bal9 fault block is a medium-high temperature (58°C) reservoir in Baolige Oilfield. The crude oil is characterized by poor physical properties which has high wax and high gum content. The oil-water viscosity ratio is high and this leads to…
View article: A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2 Open
Qiu, Liang-Liang; Lin, Xiao-Dan; Xu, Guo-Rong; Wang, Li-Li; Ye, Zhi-Xian; Lin, Feng; Chen, Hai-Zhu; Lin, Min-Ting; Cai, Nai-Qing; Jin, Ming; Xu, Liu-Qing; Hu, Wei; Wang, Ning; Wang, Zhi-QiangEditor(s): Guo., Li-Shao Author Information
View article: Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings
Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings Open
To the Editor: Mutations in the dysferlin (DYSF) gene lead to dysferlinopathy, which is referred to as a group of muscular dystrophies with autosomal recessive inheritance. Dysferlinopathy includes Miyoshi myopathy (MM), limb-girdle muscul…