Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle

Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden

(2019) Santiago Zuluaga-Sanchez et al.   PHARMACOECONOMICS

Retrospective natural history of thymidine kinase 2 deficiency

(2018) Caterina Garone et al.   JOURNAL OF MEDICAL GENETICS

Successful long-term therapy with flecainide in a family with paramyotonia congenita

(2018) Chiara Terracciano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

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

(2018) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

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

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

(2018) Marika Pane et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes

(2018) Eric P. Hoffman et al.   STEROIDS

Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial

(2018) Guillaume Bassez et al.   BRAIN

Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention

(2018) Eduardo F. Tizzano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Clinical management of Duchenne muscular dystrophy: the state of the art

(2018) Sonia Messina et al.   NEUROLOGICAL SCIENCES

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

(2018) Stefania La Foresta et al.   NEUROLOGICAL SCIENCES

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

(2018) N. Kuntz et al.   NEUROMUSCULAR DISORDERS

Personalized gene and cell therapy for Duchenne Muscular Dystrophy

(2018) Florian Barthélémy et al.   NEUROMUSCULAR DISORDERS

Hippo signaling pathway is altered in Duchenne muscular dystrophy

(2018) Gian Luca Vita et al.   PLoS One

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

(2018) Leonela Amoasii et al.   SCIENCE

Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping

(2018) Dunhui Li et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

New Directions for SMA Therapy

(2018) Sonia Messina   Journal of Clinical Medicine

A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier

(2018) Stefan Sturm et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Open-label trial of ranolazine for the treatment of paramyotonia congenita

(2018) Samantha Lorusso et al.   MUSCLE & NERVE

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: a phase 1, open-label, multicenter, multinational, ascending dose study

(2018) Loren D.M. Pena et al.   NEUROMUSCULAR DISORDERS

A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe

(2018) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity

(2017) Barbara K. Smith et al.   EXPERIMENTAL NEUROLOGY

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(2017) Craig M McDonald et al.   LANCET

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

(2017) Enrico Bertini et al.   LANCET NEUROLOGY

CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

(2017) Ellen L. van Agtmaal et al.   MOLECULAR THERAPY

FDA-Approved Oligonucleotide Therapies in 2017

(2017) Cy A. Stein et al.   MOLECULAR THERAPY

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

(2017) Matthew Elverman et al.   MUSCLE & NERVE

Control of phosphorothioate stereochemistry substantially increases the efficacy of antisense oligonucleotides

(2017) Naoki Iwamoto et al.   NATURE BIOTECHNOLOGY

Open-label trial of ranolazine for the treatment of myotonia congenita

(2017) W. David Arnold et al.   NEUROLOGY

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

(2017) Adele D'Amico et al.   NEUROMUSCULAR DISORDERS

218th ENMC International Workshop:

(2017) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

(2017) Sonia Messina et al.   NEUROMUSCULAR DISORDERS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

(2017) Julio López-Bastida et al.   Orphanet Journal of Rare Diseases

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

(2017) Francesco Puzzo et al.   Science Translational Medicine

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

(2017) Dominic Jauvin et al.   Molecular Therapy-Nucleic Acids

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

(2017) Manuela Corti et al.   Human Gene Therapy Clinical Development

Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction

(2017) Sang-oh Han et al.   Molecular Therapy-Methods & Clinical Development

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

(2016) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

(2016) Benedikt Schoser et al.   JOURNAL OF NEUROLOGY

Histological effects of givinostat in boys with Duchenne muscular dystrophy

(2016) Paolo Bettica et al.   NEUROMUSCULAR DISORDERS

Disease burden of spinal muscular atrophy in Germany

(2016) Constanze Klug et al.   Orphanet Journal of Rare Diseases

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review

(2016) S. Portaro et al.   PEDIATRICS

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

(2016) M. De Antonio et al.   REVUE NEUROLOGIQUE

Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein inMdxmice

(2015) Sonia Messina et al.   BIOFACTORS

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014

(2015) Jes Rahbek et al.   NEUROMUSCULAR DISORDERS

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

(2015) Delphine Laustriat et al.   Molecular Therapy-Nucleic Acids

Innovative care model for patients with complex muscle diseases

(2014) Ros Quinlivan et al.   CURRENT OPINION IN NEUROLOGY

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

(2014) C. Garone et al.   EMBO Molecular Medicine

Pharmacological chaperone therapy for lysosomal storage diseases

(2014) Giancarlo Parenti et al.   Future Medicinal Chemistry

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

(2013) Jaya R. Trivedi et al.   BRAIN

Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia

(2012) Jeffrey M. Statland   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

(2011) C. Angelini et al.   JOURNAL OF NEUROLOGY

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

The soy isoflavone genistein blunts nuclear factor kappa-B, MAPKs and TNF-α activation and ameliorates muscle function and morphology in mdx mice

(2011) Sonia Messina et al.   NEUROMUSCULAR DISORDERS

Duchenne Muscular Dystrophy: Continuous Noninvasive Ventilatory Support Prolongs Survival

(2011) J. R. Bach et al.   Respiratory Care

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

(2009) E. Matthews et al.   BRAIN

Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: A comparison study with methylprednisolone

(2009) Sonia Messina et al.   EXPERIMENTAL NEUROLOGY

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET