Biomarkers in rare disorders: The experience with spinal muscular atrophy

International Journal of Molecular Sciences

Volumn 12, Issue 1, 2011, Pages 24-38

  Tiziano, Francesco D ^a   Neri, Giovanni ^a   Brahe, Christina ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Biomarker; SMA; SMN; Spinal muscular atrophy

Indexed keywords

BIOLOGICAL MARKER; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; COMPOUND MOTOR ACTION POTENTIAL; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; ELECTROPHYSIOLOGY; GENE DOSAGE; GENE MUTATION; HOMOZYGOTE; HUMAN; MOTOR UNIT NUMBER ESTIMATION; NONHUMAN; OUTCOME ASSESSMENT; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SPINAL MUSCULAR ATROPHY; GENETICS; METABOLISM; MUSCULAR ATROPHY, SPINAL; NEUROLOGIC EXAMINATION;

ANIMALIA;

ALTERNATIVE SPLICING; BIOLOGICAL MARKERS; DIAGNOSTIC TECHNIQUES, NEUROLOGICAL; GENE DOSAGE; HUMANS; MUSCULAR ATROPHY, SPINAL; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 79251613020     PISSN: None     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms12010024     Document Type: Review

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