Disease: Spinal and bulbar muscular atrophy
- 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
- A phenotypically robust model of spinal and bulbar muscular atrophy in Drosophila
- A preliminary study on self-care telemonitoring of dysarthria in spinal muscular atrophy
- A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol
- A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene
- Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada
- Anesthetic and surgical management of tracheotomy in a patient with Kennedy's Disease
- Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
- Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany
- Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
- Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
- Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach
- Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy
- Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
- Blocking the dimerization of polyglutamine-expanded androgen receptor protects cells from DHT-induced toxicity by increasing AR turnover
- Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy
- Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity
- Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy
- Childhood spinal muscular atrophy
- Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy
- Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort
- Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
- Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca(2+) accumulation in spinobulbar muscular atrophy skeletal muscle
- Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca<sup>2+</sup> accumulation in spinobulbar muscular atrophy skeletal muscle
- Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol
- Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy
- Development of an International SMA Bulbar Assessment for Inter-professional Administration
- Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases
- Double trouble: Kennedy Disease and Immune-Mediated Necrotizing Myopathy in a Cree Male
- DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing
- Efficacy of leuprorelin in spinal and bulbar muscular atrophy: a 3-year observational study
- Electrodiagnostic Evaluation of Motor Neuron Disease
- Electrodiagnostic Evaluation of Motor Neuron Disease
- Elevated plasma p-tau181 levels unrelated to Alzheimer's disease pathology in amyotrophic lateral sclerosis
- EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy
- Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
- Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy
- Functional Implications of Protein Arginine Methyltransferases (PRMTs) in Neurodegenerative Diseases
- Genotype and clinical phenotype analysis of a Family with Kennedy disease
- Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada
- Huntingtin-associated protein 1-associated intracellular trafficking in neurodegenerative diseases
- Immp2l Enhances the Structure and Function of Mitochondrial Gpd2 Dehydrogenase
- Incidence and prevalence of Spinal and bulbar muscular atrophy in South Korea: a nationwide population-based study
- Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice
- Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report
- Long-term effects of the gait treatment using a wearable cyborg hybrid assistive limb in a patient with spinal and bulbar muscular atrophy: a case report with 5 years of follow-up
- LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
- Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
- Monomelic amyotrophy
- More than autophony: a case of Kennedy's disease presenting with autophony as an early clinical manifestation
- Motor Neuron Disease
- Motor Neuron Disease
- Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3
- Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers
- Neurodegeneration in the retina of motoneuron diseases: a longitudinal study in amyotrophic lateral sclerosis and Kennedy's disease
- Objective measurement of oral function in adults with spinal muscular atrophy
- Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial
- Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence
- Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
- Personalized treatment options for spinal muscular atrophy
- Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
- Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
- PolyQ Database-an integrated database on polyglutamine diseases
- Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study
- Precise editing of pathogenic nucleotide repeat expansions in iPSCs using paired prime editor
- Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons
- Proteomic profiling of the brain from the <em>wobbler</em> mouse model of amyotrophic lateral sclerosis reveals elevated levels of the astrogliosis marker glial fibrillary acidic protein
- Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis
- Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis
- Respiratory morbidity in patients with spinal muscular atrophy-a changing world in the light of disease-modifying therapies
- Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment
- Risdiplam in non-sitter patients aged 16 years and older with 5q spinal muscular atrophy
- Risdiplam Real World Data - Looking Beyond Motor Neurons and Motor Function Measures
- Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era
- Role of echocardiography in the management of ventricular septal rupture after acute myocardial infarction
- Sequential treatment with nusinersen, Zolgensma() and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
- Sequential treatment with nusinersen, Zolgensma<sup>®</sup> and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
- Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling
- Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia
- Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada-pattern electrocardiographic changes: A case report
- Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle
- Spinal Bulbar Muscular Atrophy -Kennedy's Disease
- Spinal bulbar muscular atrophy-Kennedy's disease
- Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention
- Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients
- Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study
- Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam
- The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
- The role of ubiquitination in spinal and bulbar muscular atrophy
- The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
- Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study
- Troponin T in spinal and bulbar muscular atrophy (SBMA)
- Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function
- Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
- Werdnig-Hoffmann Disease
- Werdnig-Hoffmann Disease
- Whole-Body Muscle Magnetic Resonance Imaging in 81 Patients with Spinal and Bulbar Muscular Atrophy: A Prospective Study
- Whole-body muscle magnetic resonance imaging in 81 spinal and bulbar muscular atrophy: A prospective study
- X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease