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 ...
Michael Isfort,David Lacomis
Michael Isfort
This update begins with a section on inflammatory myopathies covering inclusion body myositis in younger patients, the possibility of a pathogenic role for anti-cN1A antibodies, and a negative trial of arimoclomol in inclusion body myositis...
Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings [0.03%]
X-连锁自噬过多型肌病的诊断：遗传学、超声和电生理特征
Vanessa Dwairi,Alaina Giacobbe,Sasa Zivkovic et al.
Vanessa Dwairi et al.
X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. E...
Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS [0.03%]
重复神经刺激检查和斜方肌针电极检测在早期诊断ALS中的作用
Kazusa Takahashi,Yuichi Hamada,Masahito Kobayashi et al.
Kazusa Takahashi et al.
Objectives: To document the utility of decremental responses in the repetitive nerve stimulation test (RNS) and spontaneous activities in needle electromyography (EMG) in the trapezius muscle for the diagnosis of amyotrop...
Ali Sreij,Raja Sawaya
Ali Sreij