David Lacomis
David Lacomis
This update starts with an interesting series of children and adults with congenital myasthenic syndrome with a DOK7 variant. The next section is on autoimmune myasthenia gravis (MG) epidemiology, cost of care, and hospitalizations. A numbe...
A Case Series Examining Clinic, Laboratory, and Physical Function After Administration of Nusinersen in Adults With Spinal Muscular Atrophy, a Single-Center Study [0.03%]
伊奈利珠单抗治疗脊髓性肌萎缩症成人患者的门诊、实验室和体格功能的单中心病例系列研究
Tulio Bertorini,Janna Knickerbocker,Hagar Anwar et al.
Tulio Bertorini et al.
Spinal muscular atrophy is an incurable inherited disease caused by lower motor neuron death from mutations of the survival motor neuron genes. Intrathecal therapy with the antisense oligonucleotide, nusinersen, has been demonstrated to be ...
Observational Study
Journal of clinical neuromuscular disease. 2024 Dec 1;26(2):82-89. DOI:10.1097/CND.0000000000000512 2024
Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort [0.03%]
印度人群的自身抗体基于的临床-影像-病理表型分类天疱疹样皮炎
Manu Santhappan Girija,Seena Vengalil,Karthik Kulanthaivelu et al.
Manu Santhappan Girija et al.
Objectives: We aim to characterize the clinical, pathological, laboratory and imaging features of various antibody defined IIM subgroups in Indian population. ...
Small-Vessel Vasculitis or Perifolliculitis in Small-Fiber Neuropathy With TS-HDS, FGFR-3, or Plexin D1 Antibodies [0.03%]
TS-HDS、FGFR-3或Plexin D1抗体相关的小纤维神经病的血管炎还是毛囊周炎
Lawrence A Zeidman,Todd Levine,John Cangelosi
Lawrence A Zeidman
Introduction: Small-fiber neuropathy (SFN) is highly prevalent but often idiopathic. TS-HDS, FGFR-3, and Plexin D1 autoantibodies (seropositive) may be present in more than 40% of idiopathic cases. Another autoimmune biom...
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature [0.03%]
MYH14相关神经肌肉障碍的新表型的新型MYH14变异体的临床和组织学特征及文献综述
Alexander Mensch,Berit Jordan,Joachim Weis et al.
Alexander Mensch et al.
Background: Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Sin...
Mustafa Al-Chalabi,Armando Martinez Salazar,Anthony Bradshaw
Mustafa Al-Chalabi
Progressive Multifocal Leukoencephalopathy in Myasthenia Gravis With Selective Hypogammaglobulinemia [0.03%]
选择性低丙种球蛋白血症的重症肌无力伴进行性多灶性白质脑病
Rachana K Gandhi Mehta,James B Meiling
Rachana K Gandhi Mehta
Seronegative Isaac Syndrome Presenting as Focal Limb Stiffness Responsive to Plasma Exchange Therapy [0.03%]
血浆置换治疗有效的局限性肢体僵硬型伊萨克综合征一例
Nadia Khalil,Andrea Medina,Anthony Bradshaw
Nadia Khalil
Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family [0.03%]
Welander远端肌病创始人突变的多种表型表现及其在同一家系中的肌病和肌萎缩侧索硬化症
Nicholas Purcell,Georgios Manousakis
Nicholas Purcell
Welander distal myopathy is a rare myopathy with prominent and early involvement of distal upper extremity muscles, prevalent in individuals of Scandinavian origin, and caused by a founder mutation in the cytotoxic granule-associated RNA-bi...
Acute Multiple Cranial Neuropathies in Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report and Scoping Review of the Literature [0.03%]
慢性炎症性脱髓鞘多发神经病急性颅神经多重病变的病例报告及文献综述研究
Shima Shahjouei,Michelle Calmet,James Grogan et al.
Shima Shahjouei et al.
Objectives: Cranial nerve (CN) involvement is not a common feature of typical chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with acute presentation of CN palsy in CIDP may be misdiagnosed and treated ...