Spinal muscular atrophy: A changing phenotype beyond the clinical trials

Neuromuscular Disorders

Volumn 27, Issue 10, 2017, Pages 883-889

  Tizzano, Eduardo F ^a   Finkel, Richard S ^b,c  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b NEMOURS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF CENTRAL FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Changing epidemiology; Combinatorial therapies; Evolving phenotypes; SMN1 and SMN2 genes; Spinal muscular atrophy; Standard of care; Therapeutic approaches

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; NERVE PROTEIN;

CHILD; CLINICAL OUTCOME; CLINICAL PROTOCOL; CLINICAL TRIAL (TOPIC); DISEASE COURSE; DISEASE MODEL; DISEASE SEVERITY; DRUG APPROVAL; DRUG MARKETING; EUROPE; GENE DELETION; GENE DOSAGE; GENE FUNCTION; HUMAN; IN VITRO STUDY; MOBILIZATION; PATHOLOGY; PATIENT CARE; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; SMN1 GENE; SPINAL MUSCULAR ATROPHY; UNITED STATES; WEAKNESS; GENETIC PREDISPOSITION; GENETICS; MUTATION;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 85026326680     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2017.05.011     Document Type: Review

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