Neuromuscular Disorders最新文献

{"title":"168PCentiles for respiratory function in paediatric, GC-treated boys with Duchenne muscular dystrophy in London","authors":"G. Stimpson ,&nbsp;A. Zambon ,&nbsp;A. Laverty ,&nbsp;D. Ridout ,&nbsp;C. Brusa ,&nbsp;A. Wolfe ,&nbsp;E. Milev ,&nbsp;E. O'Reilly ,&nbsp;A. Manzur ,&nbsp;A. Sarkozy ,&nbsp;G. Baranello ,&nbsp;F. Muntoni","doi":"10.1016/j.nmd.2025.105521","DOIUrl":"10.1016/j.nmd.2025.105521","url":null,"abstract":"<div><div>Respiratory decline is a primary aspect of disease progression in boys with Duchenne muscular dystrophy (DMD), and along with cardiac dysfunction, is the primary cause of mortality. However, there is significant heterogeneity in the rate of progression, in particular after loss of ambulation, and this can present difficulties for clinical monitoring when discussing progression to mechanical ventilation. We present centiles for the Forced Vital Capacity (FVC), FVC percent predicted (FVCpp), and Peak Expiratory Flow (PEF) in boys between the ages of 5 and 16 years who initiated glucocorticoid steroids (GC) seen at Gt Ormond St Hospital. Plots for the 10th, 25th, 50th, 75th and 90th centiles for the FVC, FVCpp, and PEF will be presented. The cohort contained spirometry data for 241 patients, across 1414 assessments, seen at GOSH between 2007 and 2025, with a median age at first visit of 8 years (IQR: 6.2, 10.6). The FVC declined to below 1L by 14 years 10 months in patients on the 5th centile, but this threshold was not observed in those on the 10th centile or above before the age of 16 years. Patients on the 10th centile had an observed peak FVCpp below 80%, whilst patients on the 25th, 50th and 75th centiles displayed a decline to 80% FVCpp at 10 years 7 months, 12 years 6 months and 14 years 2 months respectively. Patients on the 10th and 25th centiles had an FVCpp that declined to below 50% at age 13 years 3 months and 14 years 6 months respectively, but this was not observed for patients on the 50th centile and above before 16 years. The PEF predominantly increased over time in this cohort. Centiles provide a method for contextualising respiratory trajectories, which can be otherwise difficult to understand for patients and their carers. In particular, the centiles presented provide insights into typical vs. atypical rates of respiratory decline, which is crucial for conversations around increased respiratory care such as ventilatory support.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105521"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scientific title page","authors":"","doi":"10.1016/S0960-8966(25)00951-4","DOIUrl":"10.1016/S0960-8966(25)00951-4","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 106224"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"01O Interferon-γ causes myogenic cell dysfunction and senescence in immune myopathies","authors":"F. Authier,&nbsp;B. Periou,&nbsp;M. Gervais,&nbsp;L. Martin,&nbsp;J. Berthier,&nbsp;Y. Baba Amer,&nbsp;S. Souvannanorath,&nbsp;E. Lechapt-Zalcman,&nbsp;E. Malfatti,&nbsp;R. Gherardi,&nbsp;F. Relaix,&nbsp;M. Bencze,&nbsp;C. Hou","doi":"10.1016/j.nmd.2025.105457","DOIUrl":"10.1016/j.nmd.2025.105457","url":null,"abstract":"<div><div>Idiopathic immune myopathies (IIM) represent a heterogeneous group of diseases, in which muscle lesions result from deregulated immune reactions. Typical histological features include myofibre necrosis, leukocyte infiltration, and aberrant myofibre Major Histocompatibility Complex (MHC) expression. To investigate the link between MHC expression, inflammation, and muscle lesions, muscle biopsies from IIM patients were analysed by transcriptomics. Both, anti-synthetase syndrome (ASS) and inclusion body myositis (IBM) displayed the upregulation of IFNγ and senescence signalling pathways. Notably, IFNγ expression significantly correlated with myofibre atrophy in ASS and IBM muscle biopsies. In addition to MHC-II expression at the myofibre sarcolemma in IBM, we observed a marked overexpression in the muscle stem cells (MuSC) population, suggesting that resident satellite cells respond to IFNγ in this condition. To examine the link between IFNγ and muscle atrophy via MuSCs, we implanted an osmotic pump chronically releasing recombinant mouse IFNγ in wild-type mice subjected to acute muscle injury. Under IFNγ exposure, post-injury muscle repair was associated with significantly reduced muscle weight and myofibre diameter, while promoting interstitial fibrosis and fat deposition. The mechanism of action of the IFNγ-induced myofibre atrophy was further investigated in vitro using cultured human MuSCs. IFNγ stimulation dramatically impaired MuSCs proliferation, fusion, and promoted cell senescence. Isolated myofibres from IFNγ-treated wild-type mice displayed a significant decrease of MyoD expression and cell cycling, suggesting that IFNγ also prevents MuSC activation. In vitro, ruxolitinib, a commercially available JAK1/2 antagonist, blocked IFNγ-induced expression of MHC-II, restored normal MuSC proliferation, and reduced γ-Galactosidase activity, a marker of cell senescence. In vivo, oral delivery of ruxolitinib improved myofibre size and biomarkers of muscle atrophy. Our study provides multiple lines of evidence that IFNγ may mediate muscle atrophy in IBM patients. The identified mechanism of action involves JAK1/2 pathways, which impair MuSC function by preventing post-lesion myogenesis and promoting cell senescence. Our data suggest that repurposing JAK1/2 inhibitors may offer a new therapeutic option for treating IBM, a condition known for its resistance to classical immunosuppressant drugs, despite their effectiveness in other IIM.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105457"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"02OBrachio-cervical inflammatory myopathy: evidence for a distinct form of inflammatory muscle disease","authors":"F. Kleefeld ,&nbsp;E. Gallardo Vigo ,&nbsp;J. Teran Gamboa ,&nbsp;A. Funke ,&nbsp;A. Roos ,&nbsp;A. Mensch ,&nbsp;J. Gehrig ,&nbsp;T. Ruck ,&nbsp;A. Mossakowski ,&nbsp;L. Llansó ,&nbsp;S. Bortolani ,&nbsp;E. Torchia ,&nbsp;M. Casal-Dominguez ,&nbsp;I. Pinal-Fernandez ,&nbsp;A. Mammen ,&nbsp;G. Tasca ,&nbsp;C. Preuße ,&nbsp;W. Stenzel","doi":"10.1016/j.nmd.2025.105458","DOIUrl":"10.1016/j.nmd.2025.105458","url":null,"abstract":"<div><div>Brachio-cervical inflammatory myopathy (BCIM) is a rare and underrecognized type of idiopathic inflammatory myopathy (IIM). It stands out due to its unusual pattern of muscle weakness, affecting the upper arms and neck, often in an asymmetric and severe way. BCIM frequently overlaps with other autoimmune diseases, such as scleroderma, but its exact biological basis has remained unclear. As a result, it’s still debated whether BCIM represents a unique disease or a variation of other known IIM subtypes. Diagnosing BCIM can be challenging, as its clinical presentation can resemble that of genetic muscle disorders, e.g., facioscapulohumeral muscular dystrophy (FSHD). This underlines the importance of thorough diagnostic work-up, including muscle biopsy and molecular studies, to avoid misdiagnosis. In this study, we examined 23 patients with BCIM and available muscle biopsies. Most patients (87%) were women and showed pronounced and asymmetric upper limb weakness. Other frequent signs included dropped head, dysphagia, scapular winging, and facial involvement. Interestingly, more than half (56%) also showed signs of proximal lower limb weakness. While many patients initially responded to immunosuppressive therapy, most experienced only partial recovery, and progressive muscle fibrosis with persistent axial weakness was common. Polyclonal antibody production was found in 80% of patients, including AChR antibodies in the absence of clinical myasthenia. Integrating clinical, histopathological, transcriptomic, and proteomic data, we observed a consistent pattern of B cell-driven inflammation with local antibody production, alongside clear evidence of mitochondrial dysfunction, which is at variance with other types of IIM. Together, these findings support the hypothesis that BCIM is a distinct form of inflammatory myopathy. Improved recognition of its clinical and molecular features is essential for accurate diagnosis and may open the door to more tailored treatment approaches, including early B-cell depleting strategies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105458"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"29PMyological evaluation of patients with post-acute COVID-19 syndrome","authors":"F. Authier ,&nbsp;M. Aoun Sebaiti ,&nbsp;S. Souvannanorath ,&nbsp;E. Malfatti ,&nbsp;E. Itti ,&nbsp;G. Severa","doi":"10.1016/j.nmd.2025.105492","DOIUrl":"10.1016/j.nmd.2025.105492","url":null,"abstract":"<div><div>Post-acute COVID-19 syndrome (PACS) is a highly multifaceted condition, mimicking myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in patients with the most prolonged evolution. Due to the frequency of muscle pain and exertion intolerance, these patients are often suspected of having a muscular disease. Here we present the results of the neuromuscular evaluation of patients with a clinically defined PACS. Twenty-two consecutive PACS patients (17F, 5M; median age 47 yrs) were included. All had at least one Covid-infection, confirmed by PCR, with mild respiratory symptoms, only one having required hospitalization and transfer to intensive care unit at acute stage. After a variable period between weeks to few months, patients developed chronic fatigue (duration &gt; 6 months; n=22, 100%), post-exertional malaise (n=22, 100%), cognitive impairment including short-term memory loss or “brain fog” (n=22, 100%), muscle pain (n=18, 82%). No other specific neuromuscular clinical sign were found. 100% of patients fulfilled diagnostic criteria for ME/CSF: CDC1994/Fukuda, International Consensus Criteria 2011, US Inst Medicine 2015, UK National Institute for health and Care Excellence, 2021. Nineteen (86%) didn’t show any recovery period after the onset of symptoms. ENMG examination was normal, without myogenic pattern; CK levels were normal; and muscle MRI available in five patients did not present any changes including fibro-fatty replacement. Brain 18FDG -PET/MRI showed a pattern of hypometabolism compatible with ME/CSF in half of patients. Muscle biopsy was performed in 3 patients and disclosed mild myopathic features in 2/3. In conclusion, our long-lasting PACS patients with muscular symptoms fulfilled criteria for ME/CSF and may present myopathological changes at muscle biopsy.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105492"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"04INVSpinal muscular atrophy: systemic disease, focal treatment – or vice versa?","authors":"J. Kirschner","doi":"10.1016/j.nmd.2025.105460","DOIUrl":"10.1016/j.nmd.2025.105460","url":null,"abstract":"<div><div>Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by reduced levels of the survival motor neuron (SMN) protein due to bi-allelic loss of function of the SMN1 gene. While the clinical phenotype is predominantly characterized by lower motor neuron degeneration, SMN is ubiquitously expressed, and evidence from preclinical models indicates that reduced SMN levels can affect multiple organ systems. Furthermore, SMN expression is developmentally regulated, with higher levels required during early stages of development, suggesting a temporal window of vulnerability. In animal studies, tissue-specific depletion of SMN results in organ-specific abnormalities, supporting the hypothesis that SMA may represent a multisystem disorder. However, the relevance of these findings to the human phenotype remains uncertain. Available SMA treatments (nusinersen, risdiplam, and onasemnogene abeparvovec) differ significantly in both the distribution and duration of SMN expression across tissues. If this has an impact on the clinical presentation is still not clear. In clinical practice, patients receiving central nervous system-targeted therapy with antisense oligonucleotides typically demonstrate stabilization or improvement of motor function, and progressive systemic involvement is not commonly observed. Nevertheless, isolated reports of extra-neuronal complications have emerged, raising questions about their clinical significance. This presentation will critically review current evidence regarding the systemic versus motor neuron-specific manifestations of SMA, synthesizing preclinical data on organ involvement and clinical experience with CNS-targeted therapies.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105460"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"10PAnti-synthetase syndrome - finding a pearl in an oyster: a series of 12 cases","authors":"S. Bhagat,&nbsp;B. Jassal,&nbsp;V. Vishnu,&nbsp;M. Sharma,&nbsp;D. Bhadu","doi":"10.1016/j.nmd.2025.105474","DOIUrl":"10.1016/j.nmd.2025.105474","url":null,"abstract":"<div><div>Anti-synthetase syndrome (ASS), a heterogenous inflammatory myopathy, is a rare autoimmune disorder associated with specific autoantibodies, particularly anti-Jo1, targeting aminoacyl-tRNA synthetases (ARS). Clinical manifestations often lead to diagnostic confusion due to overlap with dermatomyositis, polymyositis and other autoimmune diseases. An analysis of 12 Anti-Synthetase syndrome (ASS) cases was done from 2019-2024. Muscle biopsy examination and a 16 antigen Euroline immunoblot was done for myositis specific and associated antibodies, including Mi-2a, Mi-2b, TIF1g, MDA5, NXP2, SAE1, Ku, PMScl100, PMScl75, Jo-1, SRP, PL-7, PL-12, EJ, OJ and Ro52. The mean age was 43.3 years (range 22-68 years) with a male: female ratio of 1:11. Clinical features included proximal muscle weakness (100%), arthritis (58%), Raynaud’s phenomenon (33%), fever (66%) and interstitial lung disease (16%). On muscle biopsy examination, 83% showed variation in fascicular size, 50% showed perifascicular atrophy, 66% showed degenerating and regenerating fibres and 50% showed inflammatory cells, predominantly CD3 and CD8 positive T cells. On immunohistochemistry, 83% showed MHC I upregulation, 50% showed MHC II upregulation on myofibres, 41% showed both and 100% showed fine granular MAC deposition on endomysial blood vessels. On immunoblot, Jo-1 was positive in 58%, PL7 in 16%, PL12 in 25% and Ro52 in 75% cases. One case was positive for dermatomyositis specific antibody (TIF-1g) also.It is important to evaluate ASS specific antibodies in all cases of IIM, even with the suspicion of dermatomyositis or polymyositis. The limited awareness about ASS can lead to delayed diagnosis and treatment requiring intensive immunosuppression.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105474"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"14PClinicopathological characteristics of chronic cases of immune-mediated necrotizing myopathy","authors":"S. Komaki ,&nbsp;A. Kubota ,&nbsp;M. Maeda ,&nbsp;J. Shimizu ,&nbsp;A. Yamanaka ,&nbsp;I. Nishino ,&nbsp;T. Toda","doi":"10.1016/j.nmd.2025.105478","DOIUrl":"10.1016/j.nmd.2025.105478","url":null,"abstract":"<div><div>Some cases of immune-mediated necrotizing myopathy (IMNM) show chronic courses; however, their clinicopathological features are not well understood. We included 339 cases of HMGCR-IMNM and 481 cases of SRP-IMNM and compared the clinical features, the MRI findings, and the pathological findings between chronic cases (disease duration ≥ 2 years) and acute cases (disease duration ≤ 3 months). For MRI evaluation, the presences of edema, fatty replacement, and atrophy were evaluated. For the pathological examination, hematoxylin-eosin staining and immunostaining (HLA-ABC, p62, and C5b9) were semi-quantitatively evaluated. The study included 88 chronic and 66 acute cases of HMGCR-IMNM and 56 chronic and 80 acute cases of SRP-IMNM. In chronic cases, the age of onset was younger, muscle atrophy was more prevalent, serum CK levels were lower, and muscle symptoms were milder. On the pathological examinations, chronic cases showed more prominent chronic changes such as endomysial fibrosis, fatty infiltration, and hypertrophic fibers, whereas fiber size variation and necrotic fibers were less frequent. The paradoxical pathological findings suggested that chronic cases are a heterogeneous group. Next, we performed a cluster analysis on chronic cases. Consequently, cases were classified into three groups: cases with marked chronic myopathic changes, muscle atrophy and severe lower limb weakness (Cluster 1); cases with mild myopathic changes and mild muscle symptoms (Cluster 2); and cases with chronic myopathic changes with inflammatory cell infiltration (Cluster 3). Imaging analysis revealed that chronic cases showed more fatty replacement and atrophy, with less edema. Among the clusters, Cluster 1 showed prominent atrophy in the lower limbs. In conclusion, chronic IMNM is a heterogeneous group and classified into three groups with distinct clinicopathological features. Further investigation is needed to assess the differences among groups.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105478"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"51VPMitochondrial pathology in Mi-2 beta dermatomyositis with lymphocyte fibre invasion","authors":"A. Cotta ,&nbsp;E. Carvalho ,&nbsp;A. da-Cunha-Junior ,&nbsp;S. Nunes-Neves ,&nbsp;B. Cordeiro ,&nbsp;A. De-Alencar-Hornsby ,&nbsp;A. Cauhi ,&nbsp;S. Coutinho-Passos ,&nbsp;J. Valicek","doi":"10.1016/j.nmd.2025.105514","DOIUrl":"10.1016/j.nmd.2025.105514","url":null,"abstract":"<div><div>Dermatomyositis with mitochondrial myopathologic abnormalities outside areas of perifascicular atrophy has rarely been described. Here we report a patient with Mi-2 beta dermatomyositis with mitochondrial morphologic abnormalities outside perifascicular areas. A 49-year-old man, was admitted with difficulties walking and raising the arms, with slight symptoms improvement in use of prednisone. He was born of nonconsanguineous parents. Physical examination demonstrated proximal lower limbs weakness, decreased reflexes, and the characteristic dermatomyositis upper chest sun exposed area V-sign. Electromyogram demonstrated asymmetric myopathic muscle action potentials with muscle membrane hyperexcitability. Laboratorial investigation demonstrated total creatine kinase of 498 IU/L (39-308)(1.6x), and aldolase 10.3 U/L (&lt; 7.6)(1.4x). Speckled nuclear Antinuclear antibodies (ANAs) pattern until 1:1280 dilution (reference below 1:80), and Anti-Mi-2 beta antibodies on Immunoblot. Magnetic resonance imaging demonstrated STIR-weighted hyperintensities in posterior distal muscles. Right vastus lateralis muscle biopsy demonstrated endomysial inflammatory infiltrate surrounding and infiltrating non necrotic muscle fibers, regeneration, ragged red fibres, COX negative fibres, major histocompatibility complex (MHC-I/ HLA-ABC) membrane positivity in non-necrotic fibres, membrane attack complex (MAC/ C5b9) deposition in capillaries and sarcolemmal membrane, isolated fibres with fine diffuse p62 positive deposits, and no MxA sarcoplasmic reaction. Transmission Electron Microscopy demonstrated accumulation of dense mitochondriae with abnormal cristae, and paracrystalline inclusions. Later studies will be necessary to confirm if Mi-2 dermatomyositis with mitochondrial abnormalities represents a subset with poor treatment response.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"53 ","pages":"Article 105514"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145204445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In memoriam: Dr. Julaine Marie Florence (1953–2025)","authors":"Conrad C. Weihl ,&nbsp;Anne M. Connolly ,&nbsp;Wendy King ,&nbsp;Alan Pestronk","doi":"10.1016/j.nmd.2025.106207","DOIUrl":"10.1016/j.nmd.2025.106207","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"54 ","pages":"Article 106207"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145154324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}