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Binaural speech processing in individuals with auditory neuropathy

Neuroscience, 2012-12, Vol.226, p.227-235

2012

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11. Carpal tunnel syndrome in pediatric mucopolysaccharidoses

Clinical neurophysiology, 2014-04, Vol.125 (4), p.e4-e5

2014

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A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

Neurology, 2011-02, Vol.76 (5), p.461-466

2011

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G.P.273

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.899-899

2014

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G.P.121 X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.902-903

2012

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G.P.35

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.805-805

2014

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G.P.77 Deletions in the dystrophin gene predict loss of ambulation before 10 years of age in boys with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.835-835

2012

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P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.741-742

2013

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8. Neurophysiologic findings in children presenting with pes cavus

Clinical neurophysiology, 2010-04, Vol.121 (4), p.e3-e3

2010

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T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.851-851

2012

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P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.690-690

2011

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D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.805-806

2012

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Sec14p-like proteins regulate phosphoinositide homoeostasis and intracellular protein and lipid trafficking in yeast

Biochemical Society transactions, 2006-06, Vol.34 (Pt 3), p.346-350

2006

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Autosomal dominant congenital spinal muscular atrophy – A possible developmental deficiency of motor neurones?

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.530-535

2008

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FP54-FR-02 Randomised trial of ascorbic acid for Charcot-Marie-Tooth disease type 1A in children

Journal of the neurological sciences, 2009, Vol.285, p.S143-S143

2009

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T.P.1.10 Reliability and validity of measuring foot and ankle muscle strength in very young children

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.741-742

2008

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Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

Neurology, 2011-08, Vol.77 (5), p.444-452

2011

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Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

Neuromuscular disorders : NMD, 2021-08, Vol.31 (8), p.706-715

2021

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Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

European journal of clinical nutrition, 2014-08, Vol.68 (8), p.892-897

2014

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Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis

Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.881-894

2019

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Volunteer tourism motivations of the Marine Conservation Cambodia project

Current issues in tourism, 2018-07, Vol.21 (10), p.1091-1096

2018

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Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA)

Journal of the neurological sciences, 2019-10, Vol.405, p.246-247

2019

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Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): Interim results from the phase 2 nurture study

Journal of the neurological sciences, 2019-10, Vol.405, p.250-250

2019

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Determinants of reduced health-related quality of life in pediatric inherited neuropathies

Neurology, 2010-08, Vol.75 (8), p.726-731

2010

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Is Reluctance to Share Alzheimer’s Disease Biomarker Status with a Study Partner a Barrier to Preclinical Trial Recruitment?

The Journal of Prevention of Alzheimer's Disease, 2021-01, Vol.8 (1), p.52-58

2021

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Binaural speech processing in individuals with auditory neuropathy

11. Carpal tunnel syndrome in pediatric mucopolysaccharidoses

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

G.P.273

G.P.121 X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

G.P.35

G.P.77 Deletions in the dystrophin gene predict loss of ambulation before 10 years of age in boys with Duchenne muscular dystrophy

P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study

8. Neurophysiologic findings in children presenting with pes cavus

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

Sec14p-like proteins regulate phosphoinositide homoeostasis and intracellular protein and lipid trafficking in yeast

Autosomal dominant congenital spinal muscular atrophy – A possible developmental deficiency of motor neurones?

FP54-FR-02 Randomised trial of ascorbic acid for Charcot-Marie-Tooth disease type 1A in children

T.P.1.10 Reliability and validity of measuring foot and ankle muscle strength in very young children

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis

Volunteer tourism motivations of the Marine Conservation Cambodia project

Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA)

Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): Interim results from the phase 2 nurture study

Determinants of reduced health-related quality of life in pediatric inherited neuropathies

Is Reluctance to Share Alzheimer’s Disease Biomarker Status with a Study Partner a Barrier to Preclinical Trial Recruitment?

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