Results 101 to 110 of about 1,729 (232)

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Magnetic Resonance Imaging Findings in a Case of Presumed Unilateral Trigeminal Ganglion Aplasia in a 3‐Year‐Old Female French Bulldog

Veterinary Radiology &Ultrasound, Volume 67, Issue 2, March 2026.
ABSTRACT A young female French bulldog with a history of chronic right keratoconjunctivitis sicca (KCS) because since birth was referred for an acute onset of nonambulatory tetraparesis. Right trigeminal nerve sensory deficits, including right corneal anesthesia and absent facial sensation, were identified during examination. Magnetic resonance imaging
Jack H. M. Jarvis, Masahiro Murakami, Go Togawa, Jessica E. Linder, Caroline V. Fulkerson   +4 more
wiley   +1 more source

Gemin4: A Novel Component of the Smn Complex That Is Found in Both Gems and Nucleoli [PDF]

, 2000
The survival of motor neurons (SMN) protein, the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, is localized both in the cytoplasm and in discrete nuclear bodies called gems.
Charroux, Bernard, Dreyfuss, Gideon, Mann, Matthias, Pellizzoni, Livio, Perkinson, Robert A., Shevchenko, Andrej, Yong, Jeongsik   +6 more
core   +2 more sources

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 387-392, February 2026.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 218-241, February 2026.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Sculpting the Future of Bone: The Evolution of Absorbable Materials in Orthopedics

Advanced Materials, Volume 38, Issue 9, 12 February 2026.
This review summarizes the current status of polymeric, ceramic, and metallic absorbable materials in orthopedic applications, and highlights several innovative strategies designed to enhance mechanical performance, control degradation, and promote bioactivity. We also discuss the progress and translational potential of absorbable materials in treating
Zhao Wang, Zehui Lv, Xuejie Cai, Yingjie Wang, Bo Peng, Haojing Xu, Hualuo Pang, Xingdong Yang, Jiawei Xu, Yixin Bian, Bin Feng, Peng Wen, Yufeng Zheng, Xisheng Weng   +13 more
wiley   +1 more source

Materials and System Design for Self‐Decision Bioelectronic Systems

Advanced Materials, Volume 38, Issue 9, 12 February 2026.
This review highlights how self‐decision bioelectronic systems integrate sensing, computation, and therapy into autonomous, closed‐loop platforms that continuously monitor and treat diseases, marking a major step toward intelligent, self‐regulating healthcare technologies.
Qiankun Zeng, Hong Liu, Yongheng Zhang, Youbin Zheng, Xuyin Ding, Mengni Zhu, Guoyue Shi, Yan Wang, Hossam Haick, Min Zhang   +9 more
wiley   +1 more source

Examination of the Peripheral Nervous System in Children With Spinal Muscular Atrophy: A High‐Resolution Ultrasonographic Study

Brain and Behavior, Volume 16, Issue 2, February 2026.
This study aimed to analyze the structure and cross‐sectional area (CSA) of the median nerve in children with spinal muscular atrophy (SMA) and evaluate the usefulness of high‐resolution ultrasound (HRUS) imaging for the monitoring of peripheral nerves in these children.
Janina Wurster, Erin West, Sandro Meier, Noé Phillip Bürke, Lynn Jansen, Philip Julian Broser   +5 more
wiley   +1 more source

Acute Liver Failure With Transient Liver Steatosis Following Multiple Hits Postoperatively in a Patient With Limb‐Girdle Muscular Dystrophy: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Transient liver steatosis is rarely described. A fast development of liver steatosis leading to acute liver failure (ALF) is, to our knowledge, rarely observed. It is so far observed and published in acute fatty liver of pregnancy, and in a few cases of ALF. However, it is observed in elective surgery for pancreaticoduodenectomy and some cases
Anders Benjamin Kildal, Espen Molden, Elisabeth Myrseth, Didrik Kjønås, Gunnar Oltmanns, Rasmus Goll, Kim Erlend Mortensen, Geir Ivar Nedredal   +7 more
wiley   +1 more source