<i>VPS16</i>-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile. [PDF]
Mahale RR, Padmanabha H.
europepmc +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
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Shared genomic features of HIV+ diffuse large B-cell lymphoma in two African cohorts. [PDF]
Roush SM+17 more
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ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut+11 more
wiley +1 more source
Comparison between long-acting pegylated and daily recombinant human growth hormone for pediatric growth hormone deficiency a systematic review. [PDF]
Zhang J, Guo S, Wang T, Chen Q.
europepmc +1 more source
Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing+4 more
wiley +1 more source
Comparison of LNR- and LODDS-based predictive models for prognosis in non-elderly patients with locally advanced rectal cancer undergoing neoadjuvant therapy. [PDF]
Tao W, Cheng Y, Wang P, Wen H, Xiao W.
europepmc +1 more source
Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha+8 more
wiley +1 more source
A Retrospective Cohort Study of Leukemia and Other Cancers in Benzene Workers
S.-N. Yin+12 more
openalex +1 more source