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[Spinal muscular atrophy: SMN protein deficiency].

Neurologia i neurochirurgia polska - 1 Jan 2000

Jedrzejowska M

Abstract excerpt

Spinal muscular atrophy is a heterogeneous group of disorders characterised by the loss of alfa motor neurons in spinal cord. Autosomal recessive infantile and juvenile proximal spinal muscular atrophy is the most common form of the disease. The identification of the disease gene-Survival of Motor Neuron (SMN) was a major advance in understanding of the molecular basis of SMA. 98% of SMA patients show the...

Topics

Cyclic AMP Response Element-Binding Protein
DNA Mutational Analysis
Exons
Gene Expression
Genotype
Humans
Nerve Tissue Proteins
Neuronal Apoptosis-Inhibitory Protein
Point Mutation
RNA, Messenger
RNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

SMN Complex Proteins

Spinal Muscular Atrophies of Childhood

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PMID: 11599226

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[Spinal muscular atrophy: SMN protein deficiency].PMID 11599226Read ↗

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.Semantic proximity Read ↗

The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy.Semantic proximity Read ↗

Perspectives and diagnostic considerations in spinal muscular atrophy.Semantic proximity Read ↗

[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Semantic proximity Read ↗

The role of the SMN gene in proximal spinal muscular atrophy.Semantic proximity Read ↗

Mitochondrial Dysfunction in Spinal Muscular AtrophySemantic proximity Read ↗

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesisSemantic proximity Read ↗

The survival motor neuron protein in spinal muscular atrophySemantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Semantic proximity Read ↗

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