List of works - Basil T Darras

A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy

scientific article

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

scientific article published on 8 January 2015

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

scientific article (publication date: October 2007)

Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

scientific article published in October 2010

Autoimmune neuromuscular disorders in childhood

scientific article published on December 2011

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

scientific article

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

scientific article published on 21 January 2016

Characterizing spinal muscular atrophy with electrical impedance myography

scientific article (publication date: 22 November 2010)

Child neurology: past, present, and future: part 2: Present training structure.

scientific article

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series

scientific article

Clinical and genetic characterization of AP4B1-associated SPG47.

scientific article published on 28 November 2017

Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities

scientific article published on 05 March 2013

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up

scientific article

Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment

scientific article

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

scientific article

Congenital myasthenic syndrome with episodic apnea

scientific article published on July 2009

Congenital myopathies: Rebuilding the natural history, one gene at a time

article

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

scientific article

Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting

scientific article

Current advances in drug development in spinal muscular atrophy.

scientific article published on December 2013

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

scientific article

Developmental milestones in type I spinal muscular atrophy

scientific article published on 5 October 2016

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita

scientific article published in December 2003

Dystrophinopathies

scientific article

Electrical impedance myography for assessment of Duchenne muscular dystrophy

scientific article published on 11 January 2017

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

scientific article published in January 2013

Electrical impedance myography in spinal muscular atrophy: A longitudinal study ⬇️

scientific article published on May 1, 2012

Electrophysiologic Evidence for Anterior Horn Cell Disease in Amyoplasia

article

Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence

scientific article published on 31 January 2018

Electrophysiologic features of fibular neuropathy in childhood and adolescence.

scientific article published on 12 September 2016

Electrophysiologic features of ulnar neuropathy in childhood and adolescence.

scientific article published on 20 February 2017

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

scientific article

Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy.

scientific article published in August 2016

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

scientific article

Inherited myopathies and muscular dystrophies

scientific article published on April 2008

Inter-session reliability of electrical impedance myography in children in a clinical trial setting.

scientific article published on November 2014

Juvenile myasthenia gravis.

scientific article published on April 2009

LGMD2I in a North American population

scientific article

Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review

scientific article published on 15 October 2013

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents

scientific article published on 24 August 2016

Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status

scientific article published on 13 October 2016

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

scientific article

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

scientific article

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

Multifocal slowing of nerve conduction in metachromatic leukodystrophy

scientific article published in April 2004

Muscle compression improves reliability of ultrasound echo intensity.

scientific article

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

scientific article

Natural history of infantile-onset spinal muscular atrophy.

scientific article published on 17 November 2017

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

scientific article

NeuroNEXT is at your service.

scientific article published on 17 November 2017

Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials

scientific article

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

scientific article published on 26 September 2016

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018

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

scientific article published on 14 February 2011

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

scientific article

Old measures and new scores in spinal muscular atrophy patients

scientific article

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development

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

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

scientific article published on 3 December 2015

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations

scientific article published in November 2009

Pediatric sciatic neuropathies: a 30-year prospective study

scientific article published on March 2011

Pediatric sciatic neuropathy associated with neoplasms

scientific article published in February 2011

Physical therapy services received by individuals with spinal muscular atrophy (SMA).

scientific article published in February 2016

Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline

scientific article published on 01 February 2007

Predicting hearing loss in facioscapulohumeral 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

Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis

scientific article

Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.

scientific article

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

scientific article

Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy

scientific article

Referral and diagnostic trends in pediatric electromyography in the molecular era

scientific article published on 05 May 2014

Reply to: The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy

scientific article published in 2022

Reply: To PMID 23893312

scientific article published on 05 August 2014

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

scientific article published on 10 February 2016

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

scientific article

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

scientific article

SMA-MAP: a plasma protein panel for spinal muscular atrophy

scientific article

Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy.

scientific article published on 21 September 2007

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy

scientific article published on 13 December 2010

Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center.

scientific article

Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.

scientific article published on 16 February 2017

Spinal muscular atrophies

scientific article published on 11 April 2015

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

scientific article published on 3 April 2015

Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope.

scientific article

Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy

scientific article published on August 2013

Thalidomide neuropathy in childhood

scientific article published on 26 November 2004

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

scientific article published on 06 October 2016

X-linked myotubular myopathy: Living longer and awaiting treatment

scientific article published on 25 August 2017

List of works by Basil T Darras

A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

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

Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

Autoimmune neuromuscular disorders in childhood

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Characterizing spinal muscular atrophy with electrical impedance myography

Child neurology: past, present, and future: part 2: Present training structure.

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series

Clinical and genetic characterization of AP4B1-associated SPG47.

Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up

Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment

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

Congenital myasthenic syndrome with episodic apnea

Congenital myopathies: Rebuilding the natural history, one gene at a time

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting

Current advances in drug development in spinal muscular atrophy.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Developmental milestones in type I spinal muscular atrophy

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita

Dystrophinopathies

Electrical impedance myography for assessment of Duchenne muscular dystrophy

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

Electrical impedance myography in spinal muscular atrophy: A longitudinal study ⬇️

Electrophysiologic Evidence for Anterior Horn Cell Disease in Amyoplasia

Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence

Electrophysiologic features of fibular neuropathy in childhood and adolescence.

Electrophysiologic features of ulnar neuropathy in childhood and adolescence.

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

Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

Inherited myopathies and muscular dystrophies

Inter-session reliability of electrical impedance myography in children in a clinical trial setting.

Juvenile myasthenia gravis.

LGMD2I in a North American population

Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review

Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents

Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status

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

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

Multifocal slowing of nerve conduction in metachromatic leukodystrophy

Muscle compression improves reliability of ultrasound echo intensity.

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

Natural history of infantile-onset spinal muscular atrophy.

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

NeuroNEXT is at your service.

Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

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

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

Old measures and new scores in spinal muscular atrophy patients

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development

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

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

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

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations

Pediatric sciatic neuropathies: a 30-year prospective study

Pediatric sciatic neuropathy associated with neoplasms

Physical therapy services received by individuals with spinal muscular atrophy (SMA).

Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline

Predicting hearing loss in facioscapulohumeral muscular dystrophy

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.

Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis

Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.

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

Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy

Referral and diagnostic trends in pediatric electromyography in the molecular era

Reply to: The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy

Reply: To PMID 23893312

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

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

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