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Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Muscle & nerve, 2015-02, Vol.51 (2), p.157-167

2015

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Spinal Muscular Atrophy

Neurologic clinics, 2015-11, Vol.33 (4), p.831-846

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.2123-2131

2016

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Review of the Diagnosis and Treatment of Periodic Paralysis

Muscle & nerve, 2018-04, Vol.57 (4), p.522-530

2018

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Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy

Neurology, 2007-05, Vol.68 (19), p.1607-1613

2007

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Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

Lancet neurology, 2015-02, Vol.14 (2), p.153-161

2015

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Consensus treatment recommendations for late-onset Pompe disease

Muscle & nerve, 2012-03, Vol.45 (3), p.319-333

2012

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Antibodies and B cells recognising citrullinated proteins display a broad cross-reactivity towards other post-translational modifications

Annals of the rheumatic diseases, 2020-04, Vol.79 (4), p.472-480

2020

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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

American journal of human genetics, 2009-09, Vol.85 (3), p.408-413

2009

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Checkpoints controlling the induction of B cell mediated autoimmunity in human autoimmune diseases

European journal of immunology, 2020-12, Vol.50 (12), p.1885-1894

2020

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Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.39-39, Article 39

2017

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Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.52-52, Article 52

2017

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Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

Annals of neurology, 2015-05, Vol.77 (5), p.840-850

2015

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In situ forming parenteral drug delivery systems: an overview

European Journal of Pharmaceutics and Biopharmaceutics, 2004-09, Vol.58 (2), p.445-455

2004

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The Limb-Girdle Muscular Dystrophies

Neurologic clinics, 2014-08, Vol.32 (3), p.729-749

2014

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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

The New England journal of medicine, 2017-11, Vol.377 (18), p.1713-1722

2017

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Nano-carriers for DNA delivery to the lung based upon a TAT-derived peptide covalently coupled to PEG–PEI

Journal of controlled release, 2005-12, Vol.109 (1), p.299-316

2005

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QMG and MG‐ADL correlations: Study of eculizumab treatment of myasthenia gravis

Muscle & nerve, 2017-08, Vol.56 (2), p.328-330

2017

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Two-dimensional thermographic phosphor thermometry using a CMOS high speed camera system

Applied physics. B, Lasers and optics, 2009-09, Vol.96 (4), p.731-734

2009

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Branched polyesters based on poly[vinyl-3-(dialkylamino)alkylcarbamate- co -vinyl acetate- co -vinyl alcohol]-graft-poly( d , l -lactide- co -glycolide): Effects of polymer structure on cytotoxicity

Biomaterials, 2007-03, Vol.28 (9), p.1610-1619

2007

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Bone targeting potential of bisphosphonate-targeted liposomes preparation, characterization and hydroxyapatite binding in vitro

International journal of pharmaceutics, 2007-03, Vol.331 (2), p.224-227

2007

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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.544-551

2009

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Effect of WOW process parameters on morphology and burst release of FITC-dextran loaded PLGA microspheres

International journal of pharmaceutics, 2007-04, Vol.334 (1), p.137-148

2007

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

PloS one, 2009-05, Vol.4 (5), p.e5268-e5268

2009

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

PloS one, 2010-08, Vol.5 (8), p.e12140

2010

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Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Spinal Muscular Atrophy

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

Review of the Diagnosis and Treatment of Periodic Paralysis

Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

Consensus treatment recommendations for late-onset Pompe disease

Antibodies and B cells recognising citrullinated proteins display a broad cross-reactivity towards other post-translational modifications

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Checkpoints controlling the induction of B cell mediated autoimmunity in human autoimmune diseases

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

In situ forming parenteral drug delivery systems: an overview

The Limb-Girdle Muscular Dystrophies

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Nano-carriers for DNA delivery to the lung based upon a TAT-derived peptide covalently coupled to PEG–PEI

QMG and MG‐ADL correlations: Study of eculizumab treatment of myasthenia gravis

Two-dimensional thermographic phosphor thermometry using a CMOS high speed camera system

Branched polyesters based on poly[vinyl-3-(dialkylamino)alkylcarbamate- co -vinyl acetate- co -vinyl alcohol]-graft-poly( d , l -lactide- co -glycolide): Effects of polymer structure on cytotoxicity

Bone targeting potential of bisphosphonate-targeted liposomes preparation, characterization and hydroxyapatite binding in vitro

Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Effect of WOW process parameters on morphology and burst release of FITC-dextran loaded PLGA microspheres

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

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

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