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Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver.
TLDR
It is demonstrated that deletion of mouse Mir122 resulted in hepatosteatosis, hepatitis, and the development of tumors resembling HCC, demonstrating critical functions for miR-122 in the maintenance of liver homeostasis and have important therapeutic implications, including the potential utility of mi R-122 delivery for selected patients with HCC and the need for careful monitoring of patients receiving miR -122 inhibition therapy for HCV. Expand
Astrocytes from Familial and Sporadic ALS Patients are Toxic to Motor Neurons
TLDR
It is demonstrated that astrocytes derived from postmortem tissue from both FALS and SALS patients are similarly toxic to motor neurons and that SOD1 is a viable target for SALS, as its knockdown significantly attenuatesAstrocyte-mediated toxicity toward motor neurons. Expand
The survival motor neuron protein in spinal muscular atrophy.
TLDR
Investigation of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients, which is consistent with features of this motor neuron disease. Expand
Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria.
TLDR
It is suggested that chronic inflammatory demyelinating polyradiculoneuropathy may be more heterogeneous than previously emphasized and proposed diagnostic criteria that allow for the heterogeneity but at the same time provide for a more consistent approach to better establish the natural history of this condition. Expand
Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy
TLDR
In patients with SMA1, a single intravenous infusion of adenoviral vector containing DNA coding for SMN resulted in longer survival, superior achievement of motor milestones, and better motor function than in historical cohorts. Expand
Evidence‐based path to newborn screening for duchenne muscular dystrophy
TLDR
A 2‐tier system using the dried blood spot to first assess CK with follow‐up DMD gene testing is introduced to assess CK in Duchenne muscular dystrophy. Expand
Inclusion body myositis and myopathies
TLDR
Newest approaches to diagnosis and pathogenesis of sporadic inclusion-body myositis and hereditary inclusion- body myopathies, including molecular-pathologic similarities to Alzheimer disease are introduced. Expand
Therapeutic microRNA Delivery Suppresses Tumorigenesis in a Murine Liver Cancer Model
TLDR
It is demonstrated that hepatocellular carcinoma (HCC) cells exhibit reduced expression of miR-26a, a miRNA that is normally expressed at high levels in diverse tissues that may provide a general strategy for miRNA replacement therapies. Expand
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
TLDR
A quantitative PCR assay is developed for the determination of SMNT and SMNC gene-copy number and demonstrates how risk estimates for the diagnosis and detection of SMA carriers can be modified by the accurate determination ofSMNT copy number. Expand
Correlating phenotype and genotype in the periodic paralyses
TLDR
This series of 226 patients (127 kindreds) confirms some clinical features of this disorder with notable exceptions: in this series, patients without mutations had a less typical clinical presentation including an older age at onset, no changes in diet as a precipitant, and absence of vacuolar myopathy on muscle biopsy. Expand
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