← All diseases
Brain and nervous system
Spinal muscular atrophy (SMA)
Would you like to receive a message when there is new research about Spinal Muscular Atrophy (SMA)? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, above every publication you'll see one sentence explaining what was investigated — and you'll get notified as soon as there's new research on Spinal Muscular Atrophy (SMA). View what Premium costs.
Publications and studies (1651)
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Persistent deficits in the motor unit following mono and dual administration of SMN up-regulators in the SmnΔ7 mouse model of spinal muscular atrophy. (2026/10/01) ♡
- A decade of disease-modifying therapies for spinal muscular atrophy. (2026/09/01) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial. (2026/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype. (2026/09/01) ♡
- Muscle MRI as an Imaging Biomarker of Muscle Damage in Patients With Spinal and Bulbar Muscular Atrophy. (2026/08/11) ♡
- [Carrier screening and prenatal diagnosis for Spinal muscular atrophy among 8 182 individuals of reproductive age from Zhangzhou region]. (2026/08/10) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework. (2026/08/10) ♡
- FOCUS: A Dual-Mismatch crRNA Strategy Unlocks High-Fidelity One-Step SNV Detection with Cas12a. (2026/08/09) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Spinal muscular atrophy (SMA): early diagnosis, therapy and economic impact. (2026/08/07) ♡
- Longitudinal Dosing Patterns and Treatment Costs Among Patients with Spinal Muscular Atrophy Initiating Nusinersen and Risdiplam. (2026/08/06) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Botulinum Neurotoxin Treatment of Camptocormia- A Critical Review and Update. (2026/08/05) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Beyond SMN1 mutation: environmental predispositions and epigenetic contributors to phenotypic variability and disease severity in spinal muscular atrophy. (2026/08/04) ♡
- The utilization of multiplex PCR with fragment analysis for carrier screening of spinal muscular atrophy. (2026/08/04) ♡
- Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy. (2026/08/03) ♡
- Are components of the histone gene expression machinery functionally repurposed in terminally differentiated cells? (2026/08/03) ♡
- Patient-Reported Symptom Burden in Individuals With Parkinson Disease. (2026/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adeno-Associated Virus Gene Therapy for Spinal Muscular Atrophy Induces Hepatotoxicity via Cytokine and Macrophage Activation. (2026/08/01) ♡
- Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study. (2026/08/01) ♡
- Natural history of a cohort of children with type 2 spinal muscular atrophy from southern India - A retrospective single-centre study. (2026/08/01) ♡
- Nationwide Epidemiology of Motor Neuron Diseases in Latvia (2020-2024): Incidence, Prevalence, and Clinical Characteristics. (2026/08/01) ♡
- Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy. (2026/08/01) ♡
- Spinal Muscular Atrophy in Adult Neurology Services in India. (2026/07/31) ♡
- Estimating the minimal clinically important difference of functional outcomes in spinal and bulbar muscular atrophy. (2026/07/31) ♡
- The peroneal muscular atrophy mouse has aberrant projection of spinal motor axons to the gluteal region. (2026/07/30) ♡
- Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement. (2026/07/29) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Regulatory Alignment on Surrogate Endpoints for Slowly Progressive Ultra-Rare Neurological Diseases: Bridging the Gap Between Biomarker Science and Global Regulatory Acceptance. (2026/07/29) ♡
- Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review. (2026/07/28) ♡
- Newborn screening is the missing step in spinal muscular atrophy care. (2026/07/28) ♡
- Compound muscle action potential amplitudes in newborn screen positive spinal muscular atrophy. (2026/07/27) ♡
- Sleep disordered breathing and autonomic outcomes in adult patients with spinal muscular atrophy (SMA) receiving Risdiplam. (2026/07/25) ♡
- Longitudinal spinal cord MRI in adult 5q-SMA: biomarker and pathophysiological insights. (2026/07/23) ♡
- Technical feasibility of an angle-free ultrasound-assisted approach for challenging lumbar puncture in complex spinal anatomy: a two-patient case series. (2026/07/22) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Strengthening adaptive functioning and participation in the contemporary spinal muscular atrophy paradigm: clinical perspectives and future directions. (2026/07/22) ♡
- Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry. (2026/07/21) ♡
- Protein-First, but Not Protein-Only: Rethinking Neurodegenerative Diseases Through Transgenic Mouse Models. (2026/07/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal and bulbar muscular atrophy in a patient with Parkinson's disease - Case report. (2026/07/21) ♡
- Incorporating AI-optimized zinc finger proteins enhances the efficiencies and targeting ranges of miniature base editors. (2026/07/20) ♡
- Brain Morphological Alterations in Adults with Spinal Muscular Atrophy Types 2 and 3: A CAT12-Derived Region-Based and Surface-Based Morphometry Study. (2026/07/20) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I. (2026/07/20) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. When barriers fail: the role of endothelial dysfunction in rare pediatric neuromuscular diseases. (2026/07/20) ♡
- Real-world 12-month outcomes of Risdiplam in spinal muscular atrophy types 2 and 3: A Brazilian cohort. (2026/07/18) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Beyond the brain: Polyglutamine disease pathology outside the nervous system. (2026/07/18) ♡
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy. (2026/07/18) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Profiling circulating Tau and phospho-Tau isoforms in pediatric and adult spinal muscular atrophy identifies selective elevation of pTau-262 in adults. (2026/07/17) ♡
- Abnormal auditory neural activity in individuals with spinal muscular atrophy. (2026/07/17) ♡
- Spinal muscular atrophy: all babies in England to be screened for rare neuromuscular disease. (2026/07/16) ♡
- Spinal muscular atrophy type 2 with severe kyphoscoliosis: a case report. (2026/07/16) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3. (2026/07/15) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy. (2026/07/15) ♡
- Development of a new classification for patients with spinal muscular atrophy to predict locomotor and pulmonary function during growth. (2026/07/14) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.