Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Clinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.

Pindolol Mitigates Cancer Cachexia by Modulating Inflammation, Lipolysis, and Muscle Atrophy.

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

An Overview of Ischemic Preconditioning as a Potential Therapeutic Target for Chronic Muscle Pain.

Inhibition of N-Terminal Acetyltransferase C Mitigates Endoplasmic Reticulum Stress-Mediated Muscle Atrophy in Cancer Cachexia.

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

Pearls & Oy-sters: Use of Short-Acting B-Agonist in DOK7-Related Congenital Myasthenic Syndrome Treatment.

Improved Outcomes With Platelet-Rich Plasma for Treating Extra-articular Hip Pathology Especially Greater Trochanteric Pain Syndrome and Hamstring Injury: A Systematic Review of Randomized Controlled Trials.

Local Translation in Glial Cells of the Brain.

Anti-Ha anti-synthetase syndrome presenting as rapidly progressive interstitial lung disease: a case report of high confidence autoantibody testing.

Rethinking Corticosteroid Therapy in Pediatric Neurology.

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

Stable Gastric Pentadecapeptide BPC 157 as a Therapy of Severe Electrolyte Disturbances in Rats.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Clinical characteristics and cancer risk of anti-OJ antisynthetase syndrome: A cohort comparative study and a systematic literature review.

"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Chronic Obstructive Pulmonary Disease and Overtraining Syndrome: A Narrative Review.

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

An Unusual Musculoaponeurotic Slip of the Brachioradialis as a Potential Cause of Radial Nerve and Radial Recurrent Artery Compression.

Downregulation of Organ-Derived Activin A Attenuates Muscle Atrophy and Intramuscular Fat Infiltration in Cancer Cachexia Mice.

Sarcoidosis With Muscular and Peripheral Nervous System Involvement: An Atypical Presentation of a Rare Disease.

Functional Outcome After Surgery for Popliteal Artery Entrapment Syndrome.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

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

Immune-mediated necrotising myopathy following semaglutide treatment: a contributing factor?

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

Hemoadsorption Combined with Hemodialysis (HAHD): a Consensus Statement from an International Expert Panel.

Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication.

Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.

An Unusual Accessory Muscular Belly of the Flexor Carpi Radialis Muscle.

Gardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.

Extracellular-to-total body water ratio is associated with comorbidity and cardiorespiratory fitness in older adults with post-COVID-19 syndrome.

Case Report: Atypical neuroleptic malignant syndrome induced by paliperidone palmitate-diagnostic challenges and clinical considerations.

Therapeutic Potential of Polydatin Against Cancer Cachexia by Regulating the STAT3 Signaling Pathway.

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.

Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management.

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

Sarcopenia: An overview of emerging therapies and pathophysiological insights in age-related skeletal muscle decline.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Tics, Tourette's and Related Muscle Pain in Children: A Review.

Wernicke Encephalopathy Associated with Malabsorption in Degos Disease.

A Rare Case Report of Antisynthetase Syndrome With Progressive Myopathy and Interstitial Lung Disease in a 38-Year-Old Male.

[Rehabilitation after pulmonary Embolism].

Glomerular basement membrane structural integrity dictates trans-tissue deposition of laminin in the kidney.

Exosomal microRNAs as Central Regulators of Cancer Cachexia: Multi-Omics Insights into Muscle Wasting and Adipose Browning.

The potential causes of myasthenia and fasciculations in severely ill ME/CFS patients: the role of disturbed electrophysiology.

Expanding the Clinical Spectrum of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: The First Report of Histologically Confirmed Neutrophilic Colitis With Rare Muscular and Pancreatic Involvement.

Effect of early intensive physical therapy on NLRP3 inflammasome activation and muscle atrophy in critical illness myopathy (PT-NLRP3-CIM): a two-centre randomized open-label study protocol.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.

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

Postpartum-Onset Dermatomyositis Presenting With Malignant Pleural Effusion: A Case Report.

A Translational Roadmap for Neurological Nonsense Mutation Disorders.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

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

Corrigendum to "Therapeutic effect of focused-extracorporeal shockwave therapy on muscular and adjacent tissue stiffness and pain changes in myofascial pain syndrome: A randomized controlled trial study" [Complem Ther Med 92 (2025), 103203].

First demyelinating attack in children: A twelve year single center cohort.

Biomechanical comparison of two squatting protocols in adolescents and young adults with femoracetabular impingement syndrome.

Largely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.

Effectiveness of physical exercise on osteosarcopenia in older adults: A systematic review.

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

Clinical presentation of tics and Gilles de la Tourette syndrome.

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

Entheseal pain of levator ani muscle: A novel etiology in chronic pelvic pain and lower urinary tract symptoms-A urodynamic perspective.

Thoracoscopic repair of Boerhaave's syndrome in the prone position: A novel left-sided minimally invasive approach.

Massive Lumbar Disc Extrusion and Cauda Equina Syndrome in a Female Athlete Following Deadlift Training.

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

Severe Unilateral Iliopsoas Atrophy After Dysplastic Hip Arthroplasty Leading to Recurrent L4/L5 Disc Degeneration: A Report of a Biomechanical Case.

Kyphoscoliotic Ehlers-Danlos syndrome associated with superior mesenteric artery aneurysm and abdominal aortic rupture: a case report.

Perforated solitary mid-rectal diverticulum diagnosed with colonoscopy: a case report and literature review.

Parsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Gaps in Current Cardiometabolic Risk Assessment: A Review Supporting the Development of the C.O.R.E. Indicator Model.

Pain Hypersensitivity in a Mouse Model of Marfan Syndrome.

IESS-FusionNet: Physiologically Inspired EEG-EMG Fusion with Linear Recurrent Attention for Infantile Epileptic Spasms Syndrome Detection.

State-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review.

The Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

Manual massage versus foam rolling within the NASM corrective framework: a trial for upper crossed syndrome rehabilitation in university students.

Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Immunometabolic reprogramming of macrophages: Emerging roles in skeletal muscle regeneration and therapeutic perspectives.

Preterm PDA Device closure using the KONAR MFO device in a resource-limited centre of North-East India: a Case series.

Rps19 R67∆ mutation creates a model of Diamond-Blackfan anemia and reveals downstream mediators of p53 pathway.

Influence of posture during mastication on body composition and nutritional intake in individuals with Down syndrome.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Signal or noise? Apply myositis autoantibody line-blot immunoassays in real-world settings: implications for diagnostic accuracy.

Lamina Propria Collagen Architecture in Interstitial Cystitis/Bladder Pain Syndrome.

Clinical Factors Associated with Postnatal Urinary Titin N-Fragment in Neonates.

The Reversed Palmaris Longus: Sonographic Findings and Anatomical Correlation With Implications for Carpal Tunnel Syndrome Diagnosis and Management.

[Rehabilitation of patients with vertebrogenic muscular-tonic and radicular syndromes].

The immune cell landscape analysed by imaging mass cytometry in the muscle of patients with inclusion body myositis associated or not with Sjögren's disease.

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Establishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis.

Adapted Judo as a Multidimensional Intervention: Effects on Physical Fitness and Psychosocial Well-Being in Adolescents with Down Syndrome.

Neuropeptides and the Autonomic Nervous System in Prader-Willi Syndrome.

The Potential Role of Iron Homeostasis and Ferroptosis in Exercise Nutrition and Health.

BCMA-directed mRNA CAR-T cell therapy for myasthenia gravis: exploratory biomarker analysis of a placebo-controlled phase 2b trial.

Bioelectrical Impedance in Monitoring Hyperhydration and Muscle Wasting in Critically Ill Corona Virus Disease (COVID-19) Patients: The Feasibility of Predicting Outcome.

Thyrotoxicosis in MCT8 deficiency.

[Pathogenesis and therapeutic advances in skeletal muscle atrophy associated with chronic heart failure: a discussion from perspective of heart Yin deficiency].

Effects of a combined training program on lipid metabolism metabolic syndrome and physical fitness in perimenopausal Chinese female teachers.

Effects of concurrent training in metabolic syndrome markers of morbidly obesity patients according muscle quality index and age.

Dropped head syndrome leading to the diagnosis of antisynthetase syndrome: a motor neuron mimicker.

Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

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.

The Role of Flexor Hallucis Longus Tendon Transfer in the Surgical Treatment of Foot Drop.

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

Association Between Physical Fitness and Quality of Life in Children and Adolescents with Down Syndrome.

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

Management of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Branched-chain amino acids and sepsis: from pathological mechanisms to clinical interventions.

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

Vasculitic fasciitis characterizes a distinct subset of vasculitic myopathy with interferon-gamma signature.

Why and How Are Infants with Hutchinson-Gilford Progeria Syndrome Born Without Severe Manifestations?

Surgical nerve wrapping for brachial plexus neuropathy: A systematic review.

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

Integrating electromyography into the physiology curriculum.

Effect of exercise on nutrition, inflammation, muscle health and cardio-cerebrovascular events in maintenance hemodialysis patients: a real-world prospective cohort study.

Novel muscle MRI features in Desmin related myasthenic myopathy.

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.

Autosomal-Recessive LMNA Dilated Cardiomyopathy.

[Pediatric pneumological aspects in the care of children with Down Syndrome].

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome.

Aseptic pyomyositis in Behçet's disease: a case report and narrative review of muscle involvement phenotypes.

Systematic analysis of adverse reactions associated with dantrolene treatment: From clinical features to molecular mechanisms.

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

Anesthetic Management of a Patient With Myhre Syndrome.

Bitter Melon Powder Enhances Antioxidant Capacity, Muscle Nutrition, and Glucolipid Metabolic Homeostasis in Cyprinus carpio Fed High-Starch Diets.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Oropharyngeal dysphagia: a narrative review towards an integrated neurogeriatric perspective.

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.

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).

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Lonafarnib Clinical Trials Demonstrate Uncoupling of the Muscle-Bone Unit in Hutchinson-Gilford Progeria Syndrome.

Paraspinal Rhabdomyolysis: A Rare but Essential Diagnosis With a Back Pain Bounceback.

Influence of ventilatory settings on pendelluft and expiratory muscle activity in hypoxemic patients resuming spontaneous breathing.

[The 515th case:dry mouth and dry eyes, parotid gland enlargement, pulmonary patchy shadows, muscular nodules].

Impact of latency jitter correction on offline P300-based classification: a preliminary study for BCI applications in MCS patients.

Associations between physical fitness components and metabolic syndrome in middle-aged adults: a cross-sectional study using relative strength indicators and ROC analysis.

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Dermatomyositis and microscopic polyangiitis overlap: a case-based review.

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

[The muscle out of breath: limitations and adaptations to hypoxia].

Antisense molecules: A promising new therapy for atopic dermatitis.

Effects of dry needling compared to magnesium infiltration in trigger points for patients with myofascial pain syndrome: a randomized controlled study in Tunisia.

Anemarrhena asphodeloides-derived small extracellular vesicle ameliorate diabetes-induced muscle atrophy via activating Pink1-mediated mitophagy.

Case Report: Progressive interstitial lung disease secondary to Sjögren's disease in a patient with inclusion body myositis complicated by dysphagia-a multidisciplinary approach and therapeutic challenges.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Exercise Modulation of the Myostatin-FOXO Pathway in Murine Models of Cancer Cachexia: A Systematic Review.

Development and Validation of a Multimodal Wearable Belt for Abdominal Biosignal Monitoring with Application to Irritable Bowel Syndrome.

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant.

The Stylohyoid Complex: An Update on Its Embryology, Comparative Anatomy and Human Variations.

Oculomotor Abnormalities in Anti-Glutamic Acid Decarboxylase-Positive Stiff Person Syndrome.

Translational pig models for human diseases.

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

Comprehensive transcriptomic analysis identifies Lrg1 as a potential therapeutic target for preventing muscle atrophy in cancer cachexia.

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Associations of cardiorespiratory fitness and muscle strength during pregnancy with metabolic health outcomes and inflammatory parameters at 1-year postpartum in women after gestational diabetes.

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.

Impaired nitric oxide-dependent endothelial function in young male individuals with obesity before the onset of symptoms and complications.

Trajectories of Recovery after ACutE and cRitical illness (TRACER): a prospective observational study protocol.

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

[Exploration on the treatment of chronic fatigue syndrome with acupuncture and moxibustion based on the "body-qi-mind trinity life view"].

Prolonged myopathy and musculoskeletal symptoms following filgrastim in a 43-Year-Old female stem cell donor: a case-based review.

Differential Diagnosis of Posterior Buttock Pain: A Conceptual Review Based on Topographic Localization of Pain, Is It Really the Sacroiliac Joint?

Differential effectiveness of photobiomodulation in muscular and articular temporomandibular disorders: a systematic review and critical appraisal.

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.

The canonical ER stress IRE1α/XBP1 pathway mediates skeletal muscle wasting during pancreatic cancer cachexia.

Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report.

Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation.

Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

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

The herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.

Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.

Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia.

Impaired cAMP-PKA-CREB1 signalling drives mitochondrial dysfunction in skeletal muscle during cancer cachexia.

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

Uses and technique of ultrasound-guided botulinum toxin infiltration.

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Adding respiratory exercises to scapular stabilization training in adolescent girls with upper cross syndrome: a randomized controlled trial.

[Beyond muscle pain: A case of Paget-Schroetter syndrome in a young athlete].

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Whole-body vibration training improves muscle mass and strength in older adults through intra- and extra-muscular pathways.