Local Translation in Glial Cells of the Brain.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

A Translational Roadmap for Neurological Nonsense Mutation Disorders.

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Sleep in children with spinal muscular atrophy and their caregivers: Exploring sleep problems and the need for care.

Pain Hypersensitivity in a Mouse Model of Marfan Syndrome.

AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model.

Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation.

Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis.

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

Effective Radiotherapy for Bilateral Hip Flexion Dysfunction Due to Vertebral Metastasis at the Origin of the Psoas Major: A Case Report.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Resilience and physical functioning trajectories in people aging with disability: concordance and determinants over seven years.

Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy.

U.S. health plan coverage of Neuromuscular Disease Therapies: An assessment of policy availability and restrictions.

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025).

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

SMN deficiency inhibits endochondral ossification via promoting TRAF6-induced ubiquitination degradation of YBX1 in spinal muscular atrophy.

Antisense molecules: A promising new therapy for atopic dermatitis.

Ad astra per aspera: treatment challenges and opportunities for children with spinal muscular atrophy and tracheostomy.

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

Modified Camitz versus flexor digitorum superficialis of the fourth finger opponensplasty in severe carpal tunnel syndrome: A systematic review.

[Musculoskeletal disorders in patients with Parkinson's disease].

Concurrent diagnosis of spinal muscular atrophy and trisomy 21: Value of comprehensive analysis in prenatal genetic testing.

The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease.

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union.

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.

Administration of Onasemnogene Abeparvovec in an Infant With Spinal Muscular Atrophy and PCR-Confirmed SARS-CoV-2 Infection.

[Neuromuscular diseases in pediatrics with specific treatments].

Utilization of Induced Pluripotent Stem Cell-Derived Neurons to Investigate the Splice-Modification Efficacy of Splice-Switching Drug Candidates.

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series.

Who declines, who maintains? Trajectories of physical function and the role of social determinants of health in adults aging with physical disability.

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy.

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.

Co-occurrence of ipsilateral partial Horner's syndrome in a patient with monomelic amyotrophy.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Visual hallucinations due to oral baclofen withdrawal.

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.

A Novel Approach to Trunk Rehabilitation: Designing an Upper Body Robotic Mobilizer for Neurological Disorders.

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Mortality Associated With Viral Bronchiolitis in a Pediatric Department: A Retrospective Analysis.

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

Pharmaceutical perspectives on oligonucleotide therapeutics and delivery systems.

Cervical Muscle Composition in Degenerative Dropped Head Syndrome: A Propensity Score Matching Study.

Costs of Treating Onasemnogene Abeparvovec-Xioi-Induced Liver Injury.

Supine Bridge Exercise for Low Back Pain: A Fascial Approach for Movement Impairment Syndromes (Part II).

Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

One-way self-expanding rods for early onset neuromuscular scoliosis: a two-year follow-up of an international cohort.

Osilodrostat Safety Profile: Findings from Real-World Data in the FAERS Database.

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Post-Marketing Safety of Spinal Muscular Atrophy Therapies: Analysis of Spontaneous Adverse Drug Reactions from EudraVigilance.

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.

Postmarketing adverse events associated with onasemnogene abeparvovec: a real-world pharmacovigilance study.

Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.

Anatomic Localization and Compression Points of Occipital Nerves: Therapeutic Insights Using K-Means and Cadaveric Atlas.

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis.

Nationwide Survey of Oral Function Management in Patients With Neuromuscular Intractable Diseases in Japan.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.

Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

[Genetic defects in Braunvieh cattle of Switzerland - an overview].

Wearable sensors in paediatric neurology.

Favorable response to ketogenic diet therapy in a patient with DYNC1H1-related epilepsy.

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome.

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.

RNA-binding proteins in disease etiology: fragile X syndrome and spinal muscular atrophy.

Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Adverse events of nusinersen: a real-world drug safety surveillance study based on the FDA adverse event reporting system (FAERS) database.

Genetic study on candidates for oocyte donation.

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

A new ICT system coupling electromyography and coma recovery scale-revised to support the diagnostic process in disorders of consciousness.

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

Genotype‒phenotype correlation in recessive DNAJB4 myopathy.

Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.

Conceptual Framework of Upper Cross Syndrome: A Delphi Study.

A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy.

Effects of platelet-rich plasma injection on electrical activity and biomechanics of the erector spinae muscles in lumbar myofascial pain syndrome.

The Lateral Corticospinal Tract Sign: An MRI Marker for Amyotrophic Lateral Sclerosis.

Research Progress of Camptocormia in Parkinson Disease.

Surgical Improvement of Neuropathy-Induced Calf Muscle Hypertrophy and Creatine Kinase Elevation: A Case Report.

Structural perspectives on the androgen receptor, the elusive shape-shifter.

Oximetry and carbon dioxide screening for ventilatory requirements in children with spinal muscular atrophy type 1-3.

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

Neurosurgical gene therapy for central nervous system diseases.

The Association between prior arthroplasty and Paraspinal Muscle Degeneration in patients undergoing elective lumbar surgery.

The association between cytomegalovirus infection and neurodegenerative diseases: a prospective cohort using UK Biobank data.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.

Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome.

The molecular mechanisms that underlie IGHMBP2-related diseases.

Parsonage-Turner Syndrome and SARS-CoV-2 Infection: A Literature Review With Case Presentation.

Complex Regional Pain Syndrome in a Non-traumatic Case: A Case Report.

Minimally Invasive Placement of Pedicle Screws Using Robotic-Assisted Navigation and Magnetically Controlled Growing Rods in a Patient with Early-Onset Scoliosis: Technical Note and Case Report.

Disproportionality Analysis of Nusinersen in the Food and Drug Administration Adverse Event Reporting System: A Real-World Postmarketing Pharmacovigilance Assessment.

[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].

Androgen receptor post-translational modifications and their implications for pathology.

Periodic limb movements during sleep in children with neuromuscular disease or cerebral palsy - An important potential contributor to sleep-related morbidity.

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies.

Fluoroscopy guided teardrop technique for open trans-muscular iliac screw placement and open reduction maneuvers during modified triangular spinopelvic fixation for unstable U-shaped sacral and tile C pelvic traumas: technical note.

The Role of Rehabilitation after Spinal Mesotherapy in a Three-Stage Treatment Concept.

Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue.

Challenges of Providing Optimal and Safe Intrapartum Analgesia in Patients With HELLP Syndrome: A Case Report and Literature Review.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Role of ERK in gender difference of fibromyalgia pain.

The various forms of hereditary motor neuron disorders and their historical descriptions.

Prevalence of Lower Cross Syndrome in Housemaids.

Dry needling in the management of chronic tension-type headache associated with levator scapulae syndrome: A case report.

Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy.

Pre-op considerations in neuromuscular scoliosis deformity surgery: proceedings of the half day course at the 58th annual meeting of the Scoliosis Research Society.

A Comprehensive Study of the Potential Compression Points of the Third Occipital Nerve and Its Possible Clinical Interests.

Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.

Gross and histopathological findings in hindlimb paralysis syndrome in wild Carnaby's black cockatoos (Zanda laitirostris).

State of art of mobility medicine: some more abstracts and evidence that the success of Pdm3 is based on extra-session relationships.

Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.

HIV-associated nemaline myopathy manifesting as bent spine syndrome.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

MECP2-related disorders while gene-based therapies are on the horizon.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy.

The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.

CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders.

Minimally invasive resection of a prominent transverse process in neurogenic thoracic outlet syndrome: new application for a primarily spinal approach. Illustrative case.

RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.

Shared and distinct mechanisms of UBA1 inactivation across different diseases.

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Efficacy and Safety of Spinal Collagen Mesotherapy in Patients with Chronic Low Back Pain in a Three-Month Follow-Up-Retrospective Study.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy.

[Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].

Neurochemical mechanism of muscular pain: Insight from the study on delayed onset muscle soreness.

Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.

Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case Report.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review.

Current Status and Advancements in Platelet-Rich Plasma Therapy.

What patient parameters influence lumbar stiffness in patients with hip pathology?

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Congenital Torticollis in a Child With Cervical Spine Deformity: A Case Report and Literature Review.

Spinal Muscular Atrophy Type 1 Survival Without New Pharmacotherapies: Two Treatment Paradigms.

Challenges in the identification of nocturnal respiratory events in adult patients affected by spinal muscular atrophy.

A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders.

Lethal immunotoxicity in high-dose systemic AAV therapy.

Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.

Volume assured pressure support mode use for non-invasive ventilation in pediatrics.

[Growth-preserving instrumentation for early onset scoliosis].

SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.

Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy.

RNA-Binding Proteins: A Role in Neurotoxicity?

Pediatric Neuromuscular Diseases.

Adenosine A2A signals and dystonia.

Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure: The Authors' Reply.

Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report.

Treatment of primary restless legs syndrome with Fu's subcutaneous needling: A case report.

In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case-control study.

Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.

Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia.

An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome.

Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study.

Dietary Implications of the Bidirectional Relationship between the Gut Microflora and Inflammatory Diseases with Special Emphasis on Irritable Bowel Disease: Current and Future Perspective.

Neurofilament Light Chain: A Translational Safety Biomarker for Drug-Induced Peripheral Neurotoxicity.

The identification of protein and RNA interactors of the splicing factor Caper in the adult Drosophila nervous system.

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.

Effect of the COVID-19 pandemic on outpatient care and rehabilitation in neuromuscular clinical practice in Japan: a health insurance claims database analysis.

Charting the Next Road Map for CSF Biomarkers in Alzheimer's Disease and Related Dementias.

SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.

Methods and results of neurosurgical treatment of cerebral palsy.

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.

Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases.

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.

VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases.

Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen.

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.

[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].

Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.

Post-polio syndrome presenting as isolated neck extensor myopathy: a case report.

Axial Postural Abnormalities in Parkinsonism: Gaps in Predictors, Pathophysiology, and Management.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Non-Functional Jaw Muscular Activity in Patients with Disorders of Consciousness Revealed by A Long-Lasting Polygraphy.

Chemistry, structure and function of approved oligonucleotide therapeutics.

Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases.

Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients.