Terkko Navigator / Journal of Neuromuscular Diseases

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with Ctg Repeats.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis.

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Expanding the Clinical Spectrum of IgLON5-Syndrome.

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.

A Panel of Slow-Channel Syndrome Mice Reveals a Unique Locomotor Behavioral Signature.

Progression of Duchenne Cardiomyopathy Presenting with Chest Pain and Troponin Elevation.

Postnatal Development of Spasticity Following Transgene Insertion in the MouseβIV Spectrin Gene (SPTBN4).

Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy.

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Severe Exacerbation of Myasthenia Gravis Associated with Checkpoint Inhibitor Immunotherapy.

Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy.

A Systematic Review and Meta-Analysis of Prevalence Studies of Sporadic Inclusion Body Myositis.

Sarcomere Dysfunction in Nemaline Myopathy.

Outcomes of Hospitalised Muscular Dystrophy Patients.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.

Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1.

Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges.

MuscleViz: Free Open-Source Software for Muscle Weakness Visualization.

Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Abstracts of the 12th UK Neuromuscular Translational Research Conference, 4th and 5th April 20191.

Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation.

Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non Ambulatory Patients with Duchenne Muscular Dystrophy.

Spinal Stenosis in Familial Transthyretin Amyloidosis.

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.

Myotubular Trust - 2019 Call for Projects (Open to International Applications).

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.

Responsiveness to Change of 5-point MRC scale, Endurance and Functional Evaluation for Assessing Myositis in Daily Clinical Practice.

Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.

Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.

Management of Adrenal Insufficiency Risk After Long-term Systemic Glucocorticoid Therapy in Duchenne Muscular Dystrophy: Clinical Practice Recommendations.