Spinal muscular atrophy: a timely review.
- Biology, MedicineArchives of neurology
A historical perspective is taken to highlight important milestones on the road to developing effective therapies for SMA to prioritize and develop the most promising therapies in an efficient, timely, and safe manner with the guidance of the appropriate regulatory agencies.
Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
- Biology, PsychologyiScience
Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
The SMA etiology, the role of SMN, and the challenges of the therapies that are approved for SMA treatment are discussed, including an antisense oligonucleotide nusinersen and small-molecule risdiplam, target SMN2 to produce more functional SMN.
Spinal muscular atrophy: A changing phenotype beyond the clinical trials
- Biology, MedicineNeuromuscular Disorders
General issues of spinal muscular atrophy (scientific review). Etiology, clinical features, approaches in rehabilitation and orthopedic treatment
- Medicine, PsychologyRussian Journal of Physiotherapy, Balneology and Rehabilitation
A more detailed study of etiological factors, pathogenesis and clinical features of spinal muscular atrophy will allow a more extensive look at the problems of this disease in order to better understand the possible methods of diagnosis and treatment of patients with this pathology.
Diminished motor neuron activity driven by abnormal astrocytic GLAST glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery
- Biology, MedicinebioRxiv
This work defines a novel SMN-associated disease mechanism involving abnormal glutamate transporter activity and regulation in astrocytes that can directly diminish motor neuron function in SMA.
A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA).
- BiologyACS chemical biology
The exciting journey from the first reported SMA cases to the currently approved splicing-switching treatments, i.e., antisense oligonucleotides and small-molecule modifiers, is summarized.
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA
- Biology, PsychologybioRxiv
Results indicate that NMJ denervation and deafferentation, but not motor neuron death, are conserved features of SMA pathology in Smn2B/- mice.
Spinal muscular atrophy in childhood - actual treatment options
- MedicineNeurologie pro praxi
Spinal Müsküler Atrofisi Olan Çocuk ve Ailesinin Hemşirelik Bakımı
- Dokuz Eylül Üniversitesi Hemşirelik Fakültesi Elektronik Dergisi
SHOWING 1-10 OF 22 REFERENCES
Spinal muscular atrophy type II
A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been…
A CASE OF CONGENITAL SPINAL MUSCULAR ATROPHY (FAMILY TYPE), AND A CASE OF HÆMORRHAGE INTO THE SPINAL CORD AT BIRTH, GIVING SIMILAR SYMPTOMS
Atlas of Clinical Medicine
- MedicineGlasgow Medical Journal
The author is wisely cautious in the matter, as will be seen by the following summary of his conclusions as to the probable pathology of exophthalmic goitre.
INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY.
- MedicineBrain : a journal of neurology
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.
- MedicineA.M.A. archives of neurology and psychiatry
Since 1945 the authors have personally examined 12 patients with a juvenile type of hereditary muscular atrophy, all of whom had earlier been considered to have muscular dystrophy of the limb-girdle type, which constitutes a distinct disease entity but seems to be little known.
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy.
- MedicineActa psychiatrica et neurologica Scandinavica
Prenatal onset spinal muscular atrophy.
- Medicine, BiologyEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society