Related Experiment Videos
[Santavuori disease(muscle-eye-brain disease)]
1National Institute of Neuroscience, NCNP.
Summary
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
European journal of neurology·2017
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.
Neuromuscular disorders : NMD·2013
Characterization of the Asian myopathy patients with VCP mutations.
European journal of neurology·2011
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology·2008
Sporadic abdominopelvic neurofibroma presenting with genitourinary symptoms: A case report.
Urology case reports·2026
Long non-coding RNAs in glial cells: key drivers of neuroinflammation in cognitive disorders.
Frontiers in aging neuroscience·2026
The cGAS-STING Pathway Drives Astrocyte-Mediated Demyelination in Multiple Sclerosis Through Clusterin Secretion.
CNS neuroscience & therapeutics·2026
Serum Biomarkers of Neuroaxonal and Astroglial Damage in Autism Spectrum Disorder: Relationship With Symptom Severity, Behavioural Dimensions and Age.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·2026