Maxwell S Damian,Ravi Srinivasan
Maxwell S Damian
Purpose of review: Patients with acute life-threatening neuromuscular disease require close cooperation between neuromuscular and intensive care specialists to achieve the best possible outcomes. The problems encountered ...
Paraneoplastic neuropathies [0.03%]
副肿瘤性神经病
Jean-Christophe Antoine,Jean-Philippe Camdessanché
Jean-Christophe Antoine
Purpose of review: To review recent advances in paraneoplastic neuropathies with emphasis on their definition, different forms and therapeutic development. ...
David Adams,Cécile Cauquil,Céline Labeyrie
David Adams
Purpose of review: Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about na...
New developments in Charcot-Marie-Tooth neuropathy and related diseases [0.03%]
Charcot-Marie-Tooth病及其他相关疾病的最新研究进展
Davide Pareyson,Paola Saveri,Chiara Pisciotta
Davide Pareyson
Purpose of review: Charcot-Marie-Tooth disease (CMT) and related neuropathies represent a heterogeneous group of hereditary disorders. The present review will discuss the most recent advances in the field. ...
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance [0.03%]
发作性晚发性肌内膜病伴意义未明的单克隆免疫球蛋白血症
Akinori Uruha,Olivier Benveniste
Akinori Uruha
Purpose of review: Sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS) is a rare subacute progressive muscle disease. The prognosis is poor due to severe respirator...
Small fibre neuropathy [0.03%]
小纤维神经病受损
Daniele Cazzato,Giuseppe Lauria
Daniele Cazzato
Purpose of review: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). Rec...
Diabetic Myopathy: current molecular understanding of this novel neuromuscular disorder [0.03%]
糖尿病性肌病：对该新型神经肌肉障碍的当前分子认识
Cynthia M F Monaco,Christopher G R Perry,Thomas J Hawke
Cynthia M F Monaco
Purpose of review: Here we summarize the evidence from human studies of the impairments to the structural, functional, and metabolic capacities in skeletal muscle in those with type 1 diabetes (T1D) - a condition known as...
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases [0.03%]
神经肌肉病的分子遗传诊断的快速发展
Alexander E Volk,Christian Kubisch
Alexander E Volk
Purpose of review: The development of massively parallel sequencing (MPS) has revolutionized molecular genetic diagnostics in monogenic disorders. The present review gives a brief overview of different MPS-based approache...
Amelia Evoli
Amelia Evoli
Purpose of review: Myasthenia gravis, a rare disorder of the neuromuscular transmission, is increasingly acknowledged as a syndrome more than as a single disease. This review summarizes recent advances in pathophysiology ...