Terkko Navigator / Journal of Neuromuscular Diseases

Advancements in AAV-mediated Gene Therapy for Pompe Disease.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance.

Abstracts from "Imaging in Neuromuscular Disease 2019: Second International Conference on Imaging in Neuromuscular Disease, 17th - 19th November 2019 | Berlin, Germany".

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.

Low Appendicular Lean Mass and Associations with Metabolic and Demographic Parameters in Wheelchair Athletes with Spinal Cord Injury.

Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1.

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

One year of newborn screening for SMA - Results of a German pilot project.

A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to Intramitochondrial Oxidation and an Inflammatory Myopathy in Dutch Shepherd Dogs.

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study.

Defects in Axonal Transport in Inherited Neuropathies.

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

"The Times They Are a-Changin'." In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort.

Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.

The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.

Ocular Weakness in Myasthenia Gravis: Changes in Affected Muscles are a Distinct Clinical Feature.

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.

Expanded Diagnostic and Therapeutic Options for Cardiac Disease in Duchenne Muscular Dystrophy.

AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort.

Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway.

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.

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.