Results 31 to 40 of about 3,106 (209)

Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises

, 2011
Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy.
Anne Koy, Ertan Mayatepek, Rainer Freynhagen, Daniel Tibussek   +3 more
core   +1 more source

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Frontiers in Neurology, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Shoji Tsuji, Hiroshi Takashima   +12 more
doaj   +1 more source

Advancing Human Skin Equivalents: The Crucial Role of Neurovascular Integration

Advanced Healthcare Materials, EarlyView.
This review discusses the importance of integrating vascular and peripheral nerve systems into human skin equivalents (HSEs) to better recapitulate native skin physiology. Recent advances in vascularized, innervated, and neurovascularized HSEs are highlighted, together with emerging bioengineering strategies, current challenges, and future ...
Hao Wu, Lorenzo Moroni, Nicolas Lebonvallet, Vincent Flacher, Paul Wieringa   +4 more
wiley   +1 more source

Canine neuropathies powerful spontaneous models for human hereditary sensory neuropathies

, 2019
International audienceIn humans, hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), constitute a clinically and genetically heterogeneous group of disorders characterized by progressive sensory loss,
Richard, L., Lia, A.-S., Mathis, S., Lagoutte, L., Quignon, P., André, C., Botherel, N., Correard, S., Vallat, J.-M., Delague, Valérie, Plassais, J., Guaguère, E., Hédan, B., Thibaud, J.-L., Mège, C., Paradis, M.   +15 more
core   +1 more source

Soft Skins With Reversible Thickness Morphing: Materials, Mechanisms, and Applications

Advanced Materials, EarlyView.
Evolution of electronic skin (e‐skin) technologies toward adaptive, multifunctional soft skins. Phase I highlights early rigid and discrete sensory interfaces. Phase II shows the transition toward flexible, stretchable, and large‐area e‐skin. Phase III captures the emergence of computational e‐skin.
Oliver Ozioko, Chiamaka Akah, Ravinder Dahiya   +2 more
wiley   +1 more source

Peripheral neuropathies in childhood: a neuropathological approach Neuropatias periféricas na infância: uma abordagem neuropatológica

Arquivos de Neuro-Psiquiatria, 1996
Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with ...
Leila Chimelli
doaj   +1 more source

A global in vivo Drosophila RNAi screen identifies a key role of ceramide phosphoethanolamine for glial ensheathment of axons. [PDF]

PLoS Genetics, 2013
Glia are of vital importance for all complex nervous system. One of the many functions of glia is to insulate and provide trophic and metabolic support to axons. Here, using glial-specific RNAi knockdown in Drosophila, we silenced 6930 conserved genes in
Aniket Ghosh, Tina Kling, Nicolas Snaidero, Julio L Sampaio, Andrej Shevchenko, Heribert Gras, Bart Geurten, Martin C Göpfert, Jörg B Schulz, Aaron Voigt, Mikael Simons   +10 more
doaj   +1 more source

TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis

Frontiers in Neurology, 2022
BackgroundGly83Arg variation is a type of TTR mutation specific to the Chinese population. Patients of hereditary transthyretin amyloidosis (ATTR) with Gly83Arg variation predominantly present with blurred vision and most of these cases are reported by ...
Zhenxian Li, Zhenxian Li, Kang Du, Kang Du, Xujun Chu, Xujun Chu, He Lv, He Lv, Wei Zhang, Wei Zhang, Zhaoxia Wang, Zhaoxia Wang, Yun Yuan, Yun Yuan, Lingchao Meng, Lingchao Meng   +15 more
doaj   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 more
wiley   +1 more source

The neuroinflammatory role of Schwann cells in disease

Neurobiology of Disease, 2013
Peripheral neuropathies are associated with a variety of clinical symptoms ranging from motor and sensory symptoms to autonomic dysfunction. The primary disease causes for peripheral nerve disorders are also very heterogeneous, including genetic causes ...
Elke Ydens, Guillaume Lornet, Veerle Smits, Sofie Goethals, Vincent Timmerman, Sophie Janssens   +5 more
doaj   +1 more source