Childhood spinal muscular atrophy: controversies and challenges (Q38003742)

26 August 2017

title

Childhood spinal muscular atrophy: controversies and challenges (English)

1 reference

26 August 2017

main subject

spinal muscular atrophy

1 reference

1 reference

2

1 reference

26 August 2017

3

Susan T Iannaccone

1 reference

26 August 2017

Eugenio Mercuri

1

1 reference

26 August 2017

language of work or name

1 reference

1 May 2012

1 reference

26 August 2017

1 reference

26 August 2017

volume

11

1 reference

26 August 2017

issue

5

1 reference

26 August 2017

page(s)

443-452

1 reference

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Spinal muscular atrophy: mechanisms and therapeutic strategies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The changing natural history of spinal muscular atrophy type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Equipment options for cough augmentation, ventilation, and noninvasive interfaces in neuromuscular respiratory management

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Special considerations in the respiratory management of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The pathophysiology of respiratory impairment in pediatric neuromuscular diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Cardiac defects contribute to the pathology of spinal muscular atrophy models

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The effect of long term ventilatory support on hemodynamics in children with spinal muscle atrophy (SMA) type II.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Feeding problems and malnutrition in spinal muscular atrophy type II

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

[Effect of thoracic bracing on lung function in children with neuromuscular disease]

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Spine surgery in spinal muscular atrophy: Long-term results

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Scoliosis and lung function in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Dual growing rod technique for the treatment of progressive early-onset scoliosis: a multicenter study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Growing rod techniques in early-onset scoliosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Bone mineral density in a paediatric spinal muscular atrophy population

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Low bone mineral density in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Improving the transition between paediatric and adult healthcare: a systematic review

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Pregnancy and spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Pilot trial of phenylbutyrate in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Daily salbutamol in young patients with SMA type II

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

A placebo-controlled trial of gabapentin in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Pilot trial of albuterol in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

New therapeutic approaches to spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Therapeutics that directly increase SMN expression to treat spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in exper

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Challenges and opportunities in clinical trials for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Perspectives on clinical trials in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Clinical trials in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Motor function-muscle strength relationship in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Outcome measure for SMA II and III patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

A motor function measure for neuromuscular diseases. Construction and validation study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Assessing upper limb function in nonambulant SMA patients: Development of a new module

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Motor unit number estimation in infants and children with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Counting motor units in chronic motor neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Compound muscle action potential and motor function in children with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Biomarkers in rare disorders: the experience with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2812%2970061-3

7 January 2021

10.1016/S1474-4422(12)70061-3

Identifiers

DOI

1 reference

26 August 2017

1 reference