about
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literatureSMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophySMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyPhase II open label study of valproic acid in spinal muscular atrophyEffects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophySMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophyA novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMAAssociation of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins.A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.Solving the puzzle of spinal muscular atrophy: what are the missing pieces?Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphismLinkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian familiesAlumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primersDefective activation of androgen-receptor complexes: a marker of androgen insensitivitySodium thiocyanate: a probe for the conformations of the androgen-receptor complexAllelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAsClinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophyIntragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing allelesThe mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse chromosome 13Genetic and physical mapping of the mouse host resistance locus Lgn1SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severityA homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Louise R Simard
@ast
Louise R Simard
@en
Louise R Simard
@es
Louise R Simard
@nl
type
label
Louise R Simard
@ast
Louise R Simard
@en
Louise R Simard
@es
Louise R Simard
@nl
prefLabel
Louise R Simard
@ast
Louise R Simard
@en
Louise R Simard
@es
Louise R Simard
@nl
P106
P1153
7006564177
P31
P496
0000-0003-0391-8821