Results 31 to 40 of about 16,650 (226)

Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article

Arquivos de Neuro-Psiquiatria
This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Lambert to the diagnosis of myasthenic syndrome on the 60th anniversary of their pioneering article (JAMA 1957) on the disease.
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rosana Herminia Scola   +3 more
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

DOK7 Mutations in Congenital Myasthenic Syndromes

Pediatric Neurology Briefs, 2007
Clinical and genetic data of 14 patients from 12 congenital myasthenic syndrome (CMS) kinships with mutations in the DOK (‘downstream-of-kinase’) 7 gene are presented by researchers from the Friedrich-Baur-Institute, Munich, Germany, and several other ...
J Gordon Millichap
doaj   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Clinical features of neuromuscular disorders in patients with N-type voltage-gated calcium channel antibodies

European Journal of Translational Myology, 2016
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However,
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker   +3 more
doaj   +1 more source

Successful treatment of advanced lung adenocarcinoma complicated with Lambert‐Eaton myasthenic syndrome: A case report and literature review

Thoracic Cancer, 2020
Lambert‐Eaton myasthenic syndrome (LEMS) is a rare disease characterized by involvement of the neuromuscular junction. Most cases have an underlying malignancy, especially small‐cell lung cancer (SCLC), while adenocarcinoma is less common.
Aili Wang, Xin Zhang, Jiawen Yi, Min Zhu, Yuhui Zhang   +4 more
doaj   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +1 more source

A Rare Clinical Presentation of Variegate Porphyria

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +1 more source

Congenital Myasthenic Syndromes

Pediatric Neurology Briefs, 1994
A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time of the AChR channel in a 5 year-old girl with myasthenic symptoms since birth is reported from the Neuromuscular Research Laboratory, Mayo Clinic ...
J Gordon Millichap
doaj   +1 more source

Experience Using Efgartigimod to Treat Juvenile Myasthenia Gravis in China: A Multicenter Retrospective Study

Muscle &Nerve, Volume 73, Issue 6, Page 1025-1031, June 2026.
ABSTRACT Introduction/Aims Current therapeutic management of juvenile myasthenia gravis (JMG) predominantly relies on conventional immunosuppressive therapies and expert consensus extrapolated from adult data, creating a critical gap in high‐quality, pediatric‐specific clinical evidence.
Jing Lin, Guoyan Qi, Susan Luo, Qilong Jiang, Bitao Bu, Min Liu, Yuzhen Wei, Meigui Han, Junhong Yang, Zhilan Zhao, Lili Zhang, Yifan Zhang, Haoyou Xu, Xingjie Hao, Zhijun Li   +14 more
wiley   +1 more source