Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

Muscle and Nerve

Volumn 43, Issue 1, 2011, Pages 26-30

  Petit, Florence ^a   Cuisset, Jean Marie ^a   Rouaix Emery, Nathalie ^a   Cancés, Claude ^b   Sablonnière, Bernard ^a   Bieth, Eric ^c   Moerman, Alexandre ^a   Sukno, Sylvie ^d   Hardy, Noah ^e   Holder Espinasse, Muriel ^a   Manouvrier Hanu, Sylvie ^a   Vallée, Louis ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b HÔPITAL DES ENFANTS   (France)

^c CHU PURPAN   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e HENRI MONDOR HOSPITAL   (France)

Author keywords

Brainstem involvement; Genotype phenotype correlations; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; GENOMIC DNA;

AGE; ARTICLE; BRAIN STEM; CONTROLLED STUDY; DEATH; DISEASE SEVERITY; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SPINAL MUSCULAR ATROPHY; WALKING DIFFICULTY; AGE DISTRIBUTION; CHILD; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY ASSESSMENT; INFANT; NEWBORN; ONSET AGE; OUTCOME ASSESSMENT; PREVALENCE; PROGNOSIS; SURVIVAL;

EID: 78650441730     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21832     Document Type: Article

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