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List of works by Susan T. Iannaccone

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands

scientific article published on 3 October 2005

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

scientific article published in February 2002

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy ⬇️

scientific article published on November 1, 2003

A Randomized, Placebo-Controlled Trial of Creatine in Children With Spinal Muscular Atrophy

A methodology to measure the strength of SMA patients. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group

scientific article published on 01 January 1990

Abnormal respiratory control and perinatal brainstem and cerebellar infarctions

scientific article published in March 1990

American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.

scientific article published on December 2007

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

scientific article

Assessment of cardiac function in adolescents with Duchenne muscular dystrophy: importance of neurohormones

scientific article published in March 2002

Atypical Infantile Spinomuscular Atrophy Presenting as Acute Diaphragmatic Paralysis ⬇️

scientific article published on 01 January 1988

Atypical Presentation for Friedreich Ataxia in a Child

scientific article published on 01 September 2015

Author response

Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan

scientific article

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

scientific article published on 21 January 2016

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

scientific article published on 10 August 2020

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy.

scientific article published in July 2005

Carbamazepine trial for Lesch-Nyhan self-mutilation

scientific article published on 01 November 1996

Cell-mediated cytotoxicity and childhood dermatomyositis

scientific article published on 01 July 1982

Childhood spinal muscular atrophy: controversies and challenges

scientific article published on May 2012

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

scientific article published on 23 October 2019

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

scientific article

Clinical trials in spinal muscular atrophy

scientific article published on August 2008

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

scientific article published in February 1996

Combination molecular therapies for SMA: How much is enough?

scientific article published on 29 October 2020

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

scientific article published on August 2007

Congenital muscular dystrophies and congenital myopathies

scientific article published on December 2013

Congenital myopathies and muscular dystrophies

scientific article published on August 2014

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Consensus statement on standard of care for congenital muscular dystrophies

scientific article

Cylindrical spirals in a familial neuromuscular disorder

scientific article

Decreased creatine kinase activity in cultured Duchenne dystrophic muscle cells

scientific article published on 01 January 1987

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

article

Determination of total and free carbamazepine and the principal metabolites in serum by high-performance liquid chromatography with photodiode-array detection

scientific article published on 01 August 1993

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

scientific article

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

scientific article

Dietary L-tyrosine supplementation in nemaline myopathy.

scientific article

Drug treatment for spinal muscular atrophy type I

scientific article (published 2012-04-18)

Drug treatment for spinal muscular atrophy type I

scientific article (publication date: 7 December 2011)

Drug treatment for spinal muscular atrophy type I

scientific article

Drug treatment for spinal muscular atrophy type I

scientific article (publication date: 18 October 2006)

Drug treatment for spinal muscular atrophy type I

scientific article published on 11 December 2019

Drug treatment for spinal muscular atrophy types II and III

scientific article

Drug treatment for spinal muscular atrophy types II and III

scientific article (published 2011-12-07)

Drug treatment for spinal muscular atrophy types II and III

scientific article (published 2009-01-21)

Drug treatment for spinal muscular atrophy types II and III

scientific article (published 2006-10-18)

Drug treatment for spinal muscular atrophy types II and III

scientific article published on 06 January 2020

Duchenne Muscular Dystrophy

scientific article published on 01 March 2001

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype

scientific article published on June 2010

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso

scientific article

Feline spinal muscular atrophy

scientific article published on 05 January 2005

Frequency and clinical progression of the vitamin E deficiency neurologic disorder in children with prolonged neonatal cholestasis

article published in 1985

Function changes in spinal muscular atrophy II and III. The DCN/SMA Group

scientific article published on 01 October 1996

Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy

scientific article published on December 2000

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

scientific article published in July 2004

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis

In vitro study of cytotoxic factors against endothelium in childhood dermatomyositis

scientific article published on 01 August 1984

Infantile myositis with leukoencephalopathy

scientific article published on 01 March 1992

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

scientific article

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

scientific article

Intramuscular hematopoiesis in hypotonic infants with type 1 muscle fiber dysmaturation

scientific article published on 01 March 1986

Juvenile myasthenia gravis: a twenty-year experience

scientific article published on March 2013

Left ventricular function and response to enalapril in patients with duchenne muscular dystrophy during the second decade of life

scientific article published on 02 August 2006

Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy.

scientific article

Low bone mineral density in spinal muscular atrophy

scientific article published in September 2008

Mechanism causing vitamin E deficiency during chronic childhood cholestasis

scientific article published on November 1983

Medical management of muscle weakness in Duchenne muscular dystrophy

scientific article published on 19 October 2020

Medullary nuclear dysplasia (Möbius syndrome) in an infant with recurrent apnea and isoelectric EEG

scientific article published on 01 April 1983

Medullary nuclear dysplasia or necrosis

scientific article published in July 1990

Meeting Abstracts

scientific article published on 01 March 2006

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

scientific article published on 27 August 2020

Modern management of spinal muscular atrophy

scientific article published on August 2007

Muscle Fatigue in Spinal Muscular Atrophy ⬇️

scientific article published on 01 August 1997

Muscle maturation delay in infantile myotonic dystrophy

scientific article published on 01 May 1986

Muscle memory

scientific article published in May 2007

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

scientific article

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

scientific article published in August 2002

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project

scientific article published in January 2018

Natural history of infantile-onset spinal muscular atrophy.

scientific article published on 17 November 2017

Nemaline myopathy: a clinical study of 143 cases

scientific article (publication date: September 2001)

Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy

scientific article published on August 1996

Normal vitamin E status in spinal muscular atrophy

scientific article published on 01 March 1983

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations ⬇️

scientific article published on January 25, 2011

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

scientific article published on 01 September 2008

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

scientific article published on 24 April 2019

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018

Outcome measures for pediatric spinal muscular atrophy

scientific article published in September 2002

Outcome of noninvasive ventilation in children with neuromuscular disease

scientific article published in January 2007

Partial biochemical maturation of aneurally cultured human skeletal muscle

scientific article published on 01 August 1982

Paucifascicular congenital sensory neuropathy in identical twins

scientific article published on 01 June 1986

Persisting muscular weakness after prolonged use of muscle relaxants

scientific article published on 01 May 1991

Postoperative malnutrition in Duchenne muscular dystrophy

scientific article

Preliminary observations on the reliability of the DCN-SMA Study Group methodology. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group

scientific article published in January 1990

Prolonged myasthenic syndrome after one week of muscle relaxants

scientific article published on 01 May 1990

Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group

scientific article published on 01 February 2000

Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group

scientific article published on 01 May 1993

Pulmonary function in spinal muscular atrophy

scientific article published on 01 July 1994

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

scientific article

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

scientific article published on 23 August 2013

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

article by Amy Bartlett et al published September 2018 in Contemporary clinical trials communications

Reliability of 4 outcome measures in pediatric spinal muscular atrophy

scientific article published in August 2003

Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA).

scientific article

Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

scientific article

Response to treatment in pediatric ocular myasthenia gravis

scientific article published on 07 November 2019

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

scientific article published on 10 February 2016

Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing

scientific article published on 28 May 2019

Sensitivity of the DCN-SMA Study Group methodology. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group

scientific article

Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials

scientific article published on 23 March 2020

Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions

Spinal muscular atrophies

scientific article

Spinal muscular atrophy

scientific article published on 01 January 2004

Spinal muscular atrophy: therapeutic strategies

scientific article published on November 2014

Statistical considerations in the study of spinal muscular atrophy. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group

scientific article published in January 1990

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

scientific article

The CINRG Becker Natural History Study: Baseline Characteristics

scientific article published on 21 June 2020

The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales

scientific article

The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module

scientific article published on 28 October 2009

The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy

scientific article published on 02 May 2006

The test of infant motor performance: reliability in spinal muscular atrophy type I.

scientific article published in January 2008

Transient cytoplasmic bodies in muscle of three infants with Werdnig-Hoffmann disease

scientific article published on 01 January 1990

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy

scientific article published on 23 February 2019

Type 1 fiber size disproportion: morphometric data from 37 children with myopathic, neuropathic, or idiopathic hypotonia

scientific article

Vitamin E deficiency during chronic childhood cholestasis: presence of sural nerve lesion prior to 2 1/2 years of age

scientific article published on 01 August 1983

Vitamin E deficiency in neuropathy of abetalipoproteinemia

scientific article published on 01 July 1986

Vitamin E deficiency neuropathy in children with fat malabsorption. Studies in cystic fibrosis and chronic cholestasis

scientific article published on 01 January 1989

Vitamin E deficiency with normal serum vitamin E concentrations in children with chronic cholestasis

scientific article published on 01 May 1984

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