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List of works by Basil T Darras

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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

scientific article published on 10 February 2016
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

scientific article
Observational study of spinal muscular atrophy type I and implications for clinical trials.

scientific article
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients

scientific article (publication date: October 2007)
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

scientific article published on 14 February 2011
Characterizing spinal muscular atrophy with electrical impedance myography

scientific article (publication date: 22 November 2010)
Natural history of infantile-onset spinal muscular atrophy.

scientific article published on 17 November 2017
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

scientific article published on 21 January 2016
Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting

scientific article
Minimal training is required to reliably perform quantitative ultrasound of muscle.

scientific article
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

scientific article published on 3 December 2015
Electrical impedance myography in spinal muscular atrophy: A longitudinal study

scientific article published on May 1, 2012
Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy.

scientific article published on 21 September 2007
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

scientific article published in October 2010
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

scientific article published on 28 May 2013
Juvenile myasthenia gravis.

scientific article published on April 2009
A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy

scientific article
Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy

scientific article published on 13 December 2010
Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline

scientific article published on 01 February 2007
Developmental milestones in type I spinal muscular atrophy

scientific article published on 5 October 2016
SMA-MAP: a plasma protein panel for spinal muscular atrophy

scientific article
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

scientific article
Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques

scientific article
Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy

scientific article
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy

scientific article
Inherited myopathies and muscular dystrophies

scientific article published on April 2008
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

scientific article published on 06 October 2016
Spinal Muscular Atrophies

scientific article published on April 11, 2015
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

scientific article
Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity.

scientific article
Revised upper limb module for spinal muscular atrophy: Development of a new module.

scientific article
Electrical impedance myography for assessment of Duchenne muscular dystrophy

scientific article published on 11 January 2017
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

scientific article
Comparison of Plasmapheresis and Intravenous Immunoglobulin as Maintenance Therapies for Juvenile Myasthenia Gravis

scientific article published on May 1, 2014
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

scientific article
Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.

scientific article
LGMD2I in a North American population

scientific article
Clinical and genetic characterization of AP4B1-associated SPG47.

scientific article published on 28 November 2017
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

scientific article
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

scientific article published on 3 April 2015
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development

scientific article
Congenital myasthenic syndrome with episodic apnea

scientific article published on July 2009
Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series

scientific article
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

scientific article
Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study.

scientific article published in January 2013
Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment

scientific article

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