Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by genetic defects in SMN1 gene, which encodes survival motor neuron 1 (SMN1) protein. SMA is characterized by loss of lower motor neurons and progressive muscle wasting. Here is the latest research on this rare condition.

July 1, 2020

Group clinic for chemoprevention of squamous cell carcinoma: a pilot study

Cutis
Meghan BeatsonShoshana M Landow
July 1, 2020

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Alexander A IyerHolly K Tabor
July 8, 2020

Branch vessel patency after TEVAR for type B aortic dissection

Annals of Vascular Surgery
Gregory A MageeFred A Weaver
June 27, 2020

Relative hyperventilation in non-ventilated patients with spinal muscular atrophy

The European Respiratory Journal
Esther S VeldhoenW Ludo van der Pol
July 11, 2020

Cervical Kyphosis in Spinal Muscular Atrophy: A Case Report

JBJS Case Connector
James T BernatzMatthew A Halanski
July 9, 2020
Review

Modern approaches in gene therapy of motor neuron diseases

Medicinal Research Reviews
Maria Zakharova
June 28, 2020

Myocardial involvement in Kugelberg-Welander disease

European Heart Journal
Justyna Maria SokolskaRobert Manka
June 27, 2020
Open Access

Efficacy of Botulinum Toxin for Treating Sialorrhea in Neuromuscular Conditions

Frontiers in Neurology
Harsh SinghRaghav Govindarajan
July 1, 2020

Survival motor neuron protein protects H9c2 cardiomyocytes from hypoxia-induced cell injury by reducing apoptosis

Clinical and Experimental Pharmacology & Physiology
Xiao ZhongXiang Song
July 1, 2020
Case Report

Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome

Journal of Cerebrovascular and Endovascular Neurosurgery
Abteen Mostofi, Nihal T Gurusinghe
June 28, 2020

Replaced right and common hepatic arteries with lienogastric trunk: a rare variant of celiaco-mesenteric anatomy

Surgical and Radiologic Anatomy : SRA
Leonard BodnerMiral Sadaria Grandhi
July 4, 2020
Open Access

Time course of neurological deficits after surgery for primary brain tumours

Acta neurochirurgica
Maria ZetterlingElisabeth Ronne Engström
June 27, 2020
Open Access

Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models

Cell Death & Disease
Sandra de la FuenteRosa M Soler
June 23, 2020

Genetic diversity of Agrobacterium species isolated from nodules of common bean and soybean in Brazil, Mexico, Ecuador and Mozambique, and description of the new species Agrobacterium fabacearum sp. nov

International Journal of Systematic and Evolutionary Microbiology
Jakeline Renata Marçon DelamutaMariangela Hungria
July 7, 2020
Case Report

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report

American Journal of Medical Genetics. Part a
Bo Hoon LeeEmma Ciafaloni
June 23, 2020

Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database

Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association
Elise L TownsendProject Cure SMA Investigatorʼs Network
June 20, 2020

Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders

The Journal of Molecular Diagnostics : JMD
Elizabeth YoungStephanie Allen

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