Results 91 to 100 of about 15,154 (201)

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu, Lijuan Wang, Guangyuan Zhao, Jiuwei Li, Jie Wu, Quan Wang, Changhong Ding, Xiaotun Ren, Xinming Shen, Hui Xiong   +18 more
wiley   +1 more source

A Novel Technique for Diaphragmatic Compound Motor Action Potential Monitoring Using the BeeAT Catheter During Cryoballoon Ablation for Atrial Fibrillation

Journal of Arrhythmia
Background Diaphragmatic compound motor action potential (CMAP) monitoring helps prevent phrenic nerve palsy during cryoballoon ablation (CBA) for atrial fibrillation.
Keigo Yamamoto, Takeshi Goto, Masaomi Kimura   +2 more
doaj   +1 more source

Time‐Continuous Prognostic Mapping of Bell's Palsy Using Yanagihara Scores and Electroneurography

The Laryngoscope, Volume 136, Issue 9, Page 4015-4024, September 2026.
This study developed a novel, time‐continuous prognostic mapping for Bell's palsy by integrating longitudinal Yanagihara scores and electroneurography in patients treated with high‐dose corticosteroids. By employing a Bayesian probabilistic approach, this model enables individualized recovery estimation at any clinical time point, overcoming the ...
Shogo N. Watanabe, Shumpei Hisamoto, Kazuo Yasuhara, Kenji Kondo, Hironobu Nishijima   +4 more
wiley   +1 more source

Characterizing Combined Central and Peripheral Demyelination—Insights From a Multimodal Comparison With Chronic Inflammatory Demyelinating Polyneuropathy and Multiple Sclerosis

Muscle &Nerve, Volume 74, Issue 3, Page 605-615, September 2026.
ABSTRACT Introduction/Aims Combined central and peripheral demyelination (CCPD) is a rare dysimmune disorder sharing features with multiple sclerosis (MS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Direct comparisons of central and peripheral diagnostic findings across these entities remain limited. We, therefore, performed a
N. Dubuisson, A. Kassab, P. Y. K. Van den Bergh, A. F. J. E. Vrancken, W. L. van der Pol, L. H. van den Berg, H. S. Goedee   +6 more
wiley   +1 more source

Administration of Schwann Cell‐Like Cells Differentiated From Tonsil‐Derived Mesenchymal Stem Cells Promotes Peripheral Nerve Regeneration by Inducing Macrophage Polarization in a Chronic Constriction Injury Model

Muscle &Nerve, Volume 74, Issue 3, Page 728-739, September 2026.
TMSC‐SCs were mixed with fibrin adhesive and administered into the sciatic nerve of CCI rats, and nerve conduction studies and histopathological observations confirmed the regeneration of the peripheral nerve and gastrocnemius muscle. In addition, the expression of M1 and M2 macrophage markers was observed after the administration of TMSC‐SCs. ABSTRACT
Yu Hwa Nam, Ji‐Sup Kim, Yoonji Yum, Juhee Yoon, Youbeen Cho, Jaeseung Lim, Saeyoung Park, Sung‐Chul Jung   +7 more
wiley   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone, Stefan Nicolau, Zhiyv Niu, Teerin Liewluck, Eric J. Sorenson, Xin‐Ming Shen, C. Michael Harper, William J. Litchy   +7 more
wiley   +1 more source

VRK1‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Introduction Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with ...
Manoella Guerra de Albuquerque Bueno, Diogo Fernandes dos Santos, Alexander M. Rossor, Matilde Laura, Alejandro Horga, Rodrigo Siqueira Soares Frezatti, Eduardo Vaz de Sousa Ferreira, Julian C. Blake, Jasper M. Morrow, Mary M. Reilly, Wilson Marques Júnior, Pedro José Tomaselli   +11 more
wiley   +1 more source

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

CMAP: Certificateless MQTT-Based Authentication Protocol for Medical IoT

IEEE Access
The Message Queueing Telemetry Transport (MQTT) protocol is a lightweight messaging protocol that has been widely adopted in medical Internet of Things (IoT) systems due to its simplicity and adaptability.
Alireza Javadi, Samad Rostampour, Ygal Bendavid, Peyman Pahlevani, Sadegh Sadeghi, Nasour Bagheri, Hosein Kangavar Nazari, Martin Reisslein, Frank H. P. Fitzek   +8 more
doaj   +1 more source