Results 111 to 120 of about 744 (162)

A case report of hereditary sensory and autonomic neuropathy – Type IV

Indian Journal of Paediatric Dermatology, 2023
Phaneendra Kumar Manipudi, J Logeshwari, Padmaja Pinjala, Rajeev Singh Thakur   +3 more
doaj   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2320-2330, October 2026.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Hereditary sensory autonomic neuropathy II, a rare disease in a large Pakistani family [PDF]

, 2015
Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs.
Arain, Fazal M., Chand, Prem
core  

Harnessing Natural Killer Cells: From Neuroimmunology to Novel Therapies for Central Nervous System Diseases

MedComm, Volume 7, Issue 10, October 2026.
This review delineates the multifaceted roles of natural killer (NK) cells in the central nervous system, spanning direct cytolysis, immunoregulation, and crosstalk with the brain microenvironment. We evaluate the translational potential and challenges of NK cell immunotherapies for a spectrum of neurological conditions.
Kaihang Deng, Wai Po Chong
wiley   +1 more source

Mechanism‐Informed Pharmacotherapy Optimization and Deprescribing: A Redox–Mitochondrial Framework

Pharmacology Research &Perspectives, Volume 14, Issue 5, October 2026.
From cumulative drug burden to mitochondrial stress and functional decline. The graphical abstract summarizes the central concept of the review, illustrating how cumulative pharmacotherapy exposure may contribute to redox–mitochondrial stress and thereby reduce biological and functional resilience.
Boštjan Martinc
wiley   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, Volume 13, Issue 52, 18 September 2026.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

A Hydrogen Sulfide–Releasing Dynamic Hydrogel Modulates Coordinated Neurovascular, Immune, and Angiogenic Responses for Scar‐Suppressed Diabetic Wound Repair

Advanced Science, Volume 13, Issue 53, 24 September 2026.
ROS‐Responsive H2S Hydrogel (HAPPF) Coordinated Regeneration for High‐Quality Diabetic Wound Repair.A self‐regulating dynamic hydrogel is developed to deliver a fluorogenic H2S donor in response to excessive ROS. Released H2S acts as a master regulator to resolve chronic inflammation (M2 polarization), restore VEGF‐driven angiogenesis, and rebalance ...
Xuyang Ning, Ziqiang Zhou, Bangming Li, Hong Lu, Haoyang Wen, Zhoulong Huang, Gang Li, Ping Hu   +7 more
wiley   +1 more source

Longitudinal Single‐Axon‐Resolution Imaging of Peripheral Nerve Injury Response in Mice Using an Optical Window Implant

Advanced Science, Volume 13, Issue 53, 24 September 2026.
A minimally invasive optical window enables stable, long‐term imaging of peripheral nerves in vivo at single‐axon resolution. Dynamic processes of degeneration, regeneration, and cellular remodeling are visualized across multiple time scales within the same nerve region, providing a unique platform to study a variety of anatomical and molecular events ...
Igor D. Luzhansky, Emma Anisman, Ron Perez, Sophia Zhang, Morgan Hoffman, Daniel Hunter, Abigail Cherian, Jevon Bonner, Emilia Feria, Ahmed Ahmed, Muneeb Malik, Junwei Du, Leland C. Sudlow, David M. Brogan, Matthew D. Wood, Mikhail Y. Berezin   +15 more
wiley   +1 more source