Results 41 to 50 of about 9,576 (247)

Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]

, 2013
Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Doehring, Alexandra, Heimann, Dirk, Hummel, Thomas, Lötsch, Jörn, Oertel, Bruno Georg   +4 more
core   +2 more sources

The pathological diagnosis of nerve biopsies: a practical approach [PDF]

, 2016
The approach to the neuropathological assessment of nerve biopsies is the main focus of this review. Nerve biopsies are invasive diagnostic procedures resulting in a permanent neurological deficit, and are therefore carried out only following an in-depth
Brandner, S
core   +1 more source

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]

, 2019
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B, Baets, J, Beijer, D, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Dotti, MT, López de Munain, A, Malandrini, A, Urtizberea, JA, Zulaica, M   +10 more
core   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, Accepted Article.
Objectives Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies. To help patients and providers in the decision‐making process, we developed
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, In collaboration with the Consensus Expert Panel (CEP) members   +19 more
wiley   +1 more source

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

eNeurologicalSci, 2019
Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy.
Keisuke Yoshikawa, Motoi Kuwahara, Kazumasa Saigoh, Hiroyuki Ishiura, Yuko Yamagishi, Yuta Hamano, Makoto Samukawa, Hidekazu Suzuki, Makito Hirano, Yoshiyuki Mitsui, Shoji Tsuji, Susumu Kusunoki   +11 more
doaj   +1 more source

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael, Romance García, Ana, Romero Maroto, Martín, Simón de las Heras, Rogelio   +3 more
core  

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies [PDF]

, 2008
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing ...
Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas, Marianne de Visser   +5 more
core   +9 more sources

Navigating the Ethereal Tightrope: The Nanogenerator Manipulates Neurons for Immune Equilibrium

Advanced Science, EarlyView.
This review explores how nanogenerators modulate neuroimmune responses, offering innovative strategies for treating neurological disorders. By interfacing with neural pathways, they enable precise control of immune activity, especially via vagus nerve stimulation.
Jia Du, Rui Deng, Ya Wu, Hong‐Xia Ren, Zong‐Hong Lin, Yang‐Bao Miao   +5 more
wiley   +1 more source