spinal muscular atrophy
SaudiVarKB evidence summary derived from retained literature mentions.
38Phenotype mentions
38Publications
14Associated gene records
8Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.48_55dupGGATTCCG | c.48_55dupGGATTCCG | 1 | 1 |
| c.662C>T | c.662C>T | 1 | 1 |
| p.Pro221Leu | p.Pro221Leu | 1 | 1 |
| rs143838139 | rs143838139 | 1 | 1 |
| rs121909192 | rs121909192 | 1 | 1 |
| c.41T>C | c.41T>C | 1 | 1 |
| p.Leu14Pro | p.Leu14Pro | 1 | 1 |
| c.481C>T | c.481C>T | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 3 | 3 |
| Saudi Arabia | — | 2 | 2 |
| Population record | — | 1 | 1 |
| Saudi Arabia | Cohort 110 | 1 | 1 |
| Population record | Cohort 26 | 1 | 1 |
| Saudi Arabia | Cohort 46 | 1 | 1 |
| Saudi Arabia | Cohort 1,502 | 1 | 1 |
| Saudi Arabia | Cohort 14 | 1 | 1 |
| Population record | Cohort 34 | 1 | 1 |
| Saudi Arabia | Cohort 16 | 1 | 1 |
| Saudi Arabia | Cohort 25 | 1 | 1 |
| Saudi Arabia | Cohort 0 | 1 | 1 |
| Population record | Cohort 126 | 1 | 1 |
| Saudi Arabia | Cohort 52 | 1 | 1 |
| Saudi Arabia · Eastern Province | — | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 84 | 1 | 1 |
| Saudi Arabia | Cohort 98 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 121 | 1 | 1 |
Supporting publications
38 records- 2026Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.Nature medicine1 mentions
- 2025Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.Neuropediatrics1 mentions
- 2025Anaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report.JPMA. The Journal of the Pakistan Medical Association1 mentions
- 2025Unlocking the potential: advancements and applications of gene therapy in severe disorders.Annals of medicine1 mentions
- 2025Risdiplam in Presymptomatic Spinal Muscular Atrophy.The New England journal of medicine1 mentions
- 2025Gene Therapy in Rare Genetic Disorders: Current Progress and Future Perspectives.Current genomics1 mentions
- 2025Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program.Saudi medical journal1 mentions
- 2024Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.Neurology. Clinical practice1 mentions
- 2024A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.Cureus1 mentions
- 2024Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.International journal of biological macromolecules1 mentions
- 2024Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.Communications medicine1 mentions
- 2023Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.Cureus1 mentions
- 2023Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.Molecular genetics & genomic medicine1 mentions
- 2023Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.Nature communications1 mentions
- 2022Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases.Molecular neurobiology1 mentions
- 2022Spinal muscular atrophy carrier frequency in Saudi Arabia.Molecular genetics & genomic medicine1 mentions
- 2022Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy.Archives of cardiovascular diseases1 mentions
- 2021Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP1 mentions
- 2020Spinal Muscular Atrophy and Communicating Hydrocephalus: A Novel or a Well-Established Rare Association?Cureus1 mentions
- 2019Evaluation of the role of an antioxidant gene in NSC-34 motor neuron-like cells as a model of a motor neuron disease.Folia morphologica1 mentions
- 2018Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.Biosensors & bioelectronics1 mentions
- 2018Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.American journal of human genetics1 mentions
- 2018Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.Biosensors & bioelectronics1 mentions
- 2017Spinal Muscular Atrophy and Ependymoma.Saudi journal of medicine & medical sciences1 mentions
- 2015PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene Therapy1 mentions
- 2013Type III spinal muscular atrophy mimicking muscular dystrophies.Pediatric neurology1 mentions
- 2013A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.Molecular genetics & genomic medicine1 mentions
- 2010Infantile spinal muscular atrophy with respiratory distress type 1: a case report.Journal of child neurology1 mentions
- 2010Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy.Annals of Saudi medicine1 mentions
- 2005Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.Annals of human genetics1 mentions
- 2003Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.Saudi medical journal1 mentions
- 2001Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.Journal of biomedical science1 mentions
- 1999Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
- 1998Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.Journal of the neurological sciences1 mentions
- 1996Childhood neuromuscular disorders: a decade's experience in Saudi Arabia.Annals of tropical paediatrics1 mentions
- 1993A community survey of neurological disorders in Saudi Arabia: the Thugbah study.Neuroepidemiology1 mentions
- 1992Werdnig Hoffman's disease (spinal muscular atrophy type I): A clinical study of 25 Saudi nationals in Al-Khobar.Annals of Saudi medicine1 mentions
- 1991Genetically determined neurodegenerative disorders: experiences in Saudi Arabia.Annals of tropical paediatrics1 mentions