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All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy

Journal of the American College of Cardiology, 2013-03, Vol.61 (9), p.948-954

2013

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MYOD1 involvement in myopathy

European journal of neurology, 2018-12, Vol.25 (12), p.e123-e124

2018

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LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Molecular genetics and metabolism reports, 2015-12, Vol.5 (C), p.85-88

2015

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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Neurology, 2016-11, Vol.87 (20), p.2123

2016

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Deflazacort Use in Duchenne Muscular Dystrophy: An 8-Year Follow-Up

Pediatric neurology, 2008-03, Vol.38 (3), p.200-206

2008

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Teaching perspectives on the communication of difficult news of genetic conditions to medical students

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.299-305

2023

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Impact of childhood epilepsy on reading and phonological processing abilities

Epilepsy & behavior, 2005-09, Vol.7 (2), p.288-296

2005

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A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34

Brain (London, England : 1878), 2006-09, Vol.129 (Pt 9), p.2332-2340

2006

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363 Cardiac effect of high doses idebenone therapy compared to low doses in patients with friedreich ataxia

Canadian journal of cardiology, 2011-09, Vol.27 (5), p.S192-S193

2011

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Transcutaneous fiber optic Raman spectroscopy of bone using annular illumination and a circular array of collection fibers

Journal of Biomedical Optics, 2006-11, Vol.11 (6), p.060502-060503

2006

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A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2077-2084

2006

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Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

Neurology, 2005-05, Vol.64 (10), p.1762

2005

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Subsurface and Transcutaneous Raman Spectroscopy and Mapping Using Concentric Illumination Rings and Collection with a Circular Fiber-Optic Array

Applied spectroscopy, 2007-07, Vol.61 (7), p.671-678

2007

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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Nature genetics, 2002-06, Vol.31 (2), p.184-189

2002

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Increased levels of plasma malondialdehyde in Friedreich ataxia

Neurology, 2000-12, Vol.55 (11), p.1752

2000

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Eosinophils in COPD Exacerbations Are Associated With Increased Readmissions

Chest, 2017-02, Vol.151 (2), p.366-373

2017

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Impact of Temporal Lobe Epilepsy on Phonological Processing and Reading: A Case Study of Identical Twins

Neurocase, 2003-12, Vol.9 (6), p.515-522

2003

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Neurologic Crises in Hereditary Tyrosinemia

The New England journal of medicine, 1990-02, Vol.322 (7), p.432-437

1990

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Effects of hyperbaric oxygen therapy on children with spastic diplegic cerebral palsy: a pilot project

Undersea & hyperbaric medicine, 1999-12, Vol.26 (4), p.235

1999

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Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Annals of neurology, 1997-05, Vol.41 (5), p.675-682

1997

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Hyperbaric oxygen for children with cerebral palsy: a randomised multicentre trial

The Lancet (British edition), 2001-02, Vol.357 (9256), p.582-586

2001

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Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Annals of neurology, 2003-07, Vol.54 (1), p.9-18

2003

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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics, 1997-11, Vol.1 (2), p.141-147

1997

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The TRIVIA Cohort for Surgical Management of Tetralogy of Fallot: Merging Population and Clinical Data for Real-World Scientific Evidence

CJC open (Online), 2020-11, Vol.2 (6), p.663-670

2020

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Gross Motor Function Measure Evolution Ratio: Use as a Control for Natural Progression in Cerebral Palsy

Archives of physical medicine and rehabilitation, 2016-05, Vol.97 (5), p.807-814.e2

2016

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All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy

MYOD1 involvement in myopathy

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Deflazacort Use in Duchenne Muscular Dystrophy: An 8-Year Follow-Up

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

Impact of childhood epilepsy on reading and phonological processing abilities

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34

363 Cardiac effect of high doses idebenone therapy compared to low doses in patients with friedreich ataxia

Transcutaneous fiber optic Raman spectroscopy of bone using annular illumination and a circular array of collection fibers

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

Subsurface and Transcutaneous Raman Spectroscopy and Mapping Using Concentric Illumination Rings and Collection with a Circular Fiber-Optic Array

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Increased levels of plasma malondialdehyde in Friedreich ataxia

Eosinophils in COPD Exacerbations Are Associated With Increased Readmissions

Impact of Temporal Lobe Epilepsy on Phonological Processing and Reading: A Case Study of Identical Twins

Neurologic Crises in Hereditary Tyrosinemia

Effects of hyperbaric oxygen therapy on children with spastic diplegic cerebral palsy: a pilot project

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Hyperbaric oxygen for children with cerebral palsy: a randomised multicentre trial

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

The TRIVIA Cohort for Surgical Management of Tetralogy of Fallot: Merging Population and Clinical Data for Real-World Scientific Evidence

Gross Motor Function Measure Evolution Ratio: Use as a Control for Natural Progression in Cerebral Palsy

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