Lista de obras - Louise R Simard - Dominio Público Uruguay

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families

artículo científico publicado en 2018

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

artículo científico publicado en 2007

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

artículo científico publicado en 2015

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

artículo científico

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

scientific article published on 01 August 1995

Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers

scientific article published on 01 July 1990

Association of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins.

artículo científico publicado en 2008

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

artículo científico publicado en 1992

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

scientific article published on 01 December 1996

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).

artículo científico publicado en 1999

Defective activation of androgen-receptor complexes: a marker of androgen insensitivity

artículo científico publicado en 1982

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec ⬇️

artículo científico publicado el 1 de junio de 1992

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

artículo científico publicado en 2009

Genetic and physical mapping of the mouse host resistance locus Lgn1

artículo científico publicado en 1997

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

scientific article published on 01 March 1997

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

artículo científico publicado en 1992

Phase II open label study of valproic acid in spinal muscular atrophy

artículo científico publicado en 2009

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

artículo científico publicado en 2007

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

artículo científico publicado en 2010

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy

artículo científico publicado en 2011

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

artículo científico publicado en 2014

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

artículo científico publicado en 2001

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity