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muscular atrophy/atrofi
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Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
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Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene (SMN). Although SMN was identified more than a decade ago, it remains unclear
SMN, the product of the spinal muscular atrophy-determining gene, is expressed widely but selectively in the developing human forebrain.
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The expression pattern of the survival motor neuron (SMN) protein has been investigated immunohistochemically in the human fetal forebrain from 14 to 38 weeks of gestation. Mutations in the SMN gene cause spinal muscular atrophy (SMA), an autosomal recessive disease characterized by degeneration of
Spinal muscular atrophy: present state.
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Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig-Hoffmann disease (SMA 1) to relatively benign Kugelberg-Welander disease (SMA 3). Onset before birth possibly aggravates the
The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy.
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Spinal muscular atrophy (SMA) is a degenerative motor neurone disorder causing progressive muscular weakness. Without assisted ventilation or novel therapies, most children with SMA type 1 die before the second year of life due to respiratory failure as the respiratory muscles and bulbar function
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy.
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Motor neuron disease (MND) is characterised by muscle weakness and paralysis downstream of motor neuron degeneration. Genetic factors play a major role in disease pathogenesis and progression. This is best underscored by spinal muscular atrophy (SMA), the most common MND affecting children. Although
Amphiphilic lipopeptide significantly enhances uptake of charge-neutral splice switching morpholino oligonucleotide in spinal muscular atrophy patient-derived fibroblasts.
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Splice-switching antisense oligonucleotides (SSOs) are emerging therapeutics with two SSOs recently approved by the FDA for Duchenne muscular dystrophy and spinal muscular atrophy. SSOs are administered without any delivery vector and require large doses to achieve the therapeutic benefit, primarily
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
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OBJECTIVE
To construct a method for detecting the copy number of survival of motor neuron 1 gene (SMN1) with single copy difference based on real-time fluorescence quantitative PCR, and to make practical use of the method for acquiring the data on SMN1 copy number in Chinese as well as for screening
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.
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The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q13.3 in 1990. Here, we present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (SSRs) and one RFLP in the region 5q11.2-q13.3. The
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II
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Background: Progressive C-shaped scoliosis with marked pelvic obliquity is common to spinal muscular atrophy (SMA). Reducing the number of procedures with effective deformity control is critical to minimize the risk of pulmonary
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II.
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Newborn screening for 5q-linked spinal muscular atrophy IQWiG Reports – Commission No. S18-02
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Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
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BACKGROUND
Autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of SMN1 gene in approximately 94% of SMA patients. To identify patients who retained a single SMN1 copy, SMN1 dosage analysis was performed by quantitative Real-time PCR using SYBR green dye. SMN1
Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study.
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BACKGROUND
In this study we examined the feasibility of assessing motor milestone performance of infants with spinal muscular atrophy (SMA) using the Hammersmith Infant Neurological Exam-Part 2 (HINE-2) in a phase 2 study of nusinersen.
METHODS
Nineteen SMA infants were assessed using the HINE-2 at
Spinal muscular atrophy.
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Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may
Reliability of hand-held dynamometry in spinal muscular atrophy.
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We have assessed the reliability of hand-held myometry in 33 patients with spinal muscular atrophy (SMA), testing elbow flexion, handgrip, three-point pinch, knee flexion, knee extension, and foot dorsiflexion, and determining intraclass correlation coefficients (ICC). Interrater reliability was
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