Results 21 to 30 of about 4,277 (205)

Hereditary sensory and autonomic neuropathies: types II, III, and IV

Orphanet Journal of Rare Diseases, 2007
The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction ...
Axelrod Felicia B, Gold-von Simson Gabrielle   +1 more
doaj   +1 more source

Using weighted hospital service area networks to explore variation in preventable hospitalization [PDF]

, 2017
Objective: To demonstrate the use of multiple-membership multilevel models, which analytically structure patients in a weighted network of hospitals, for exploring between-hospital variation in preventable hospitalizations. Data Sources: Cohort of
Falster, Michael O., Jorm, Louisa R., Leyland, Alastair H.   +2 more
core   +1 more source

Disease mechanisms in hereditary sensory and autonomic neuropathies

Neurobiology of Disease, 2006
Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected.
Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman   +2 more
doaj   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy

Neurobiology of Disease, 2021
Mutations in the ER-network forming GTPase atlastin3 (ATL3) can cause axon degeneration of sensory neurons by not fully understood mechanisms. We here show that the hereditary sensory and autonomous neuropathy (HSAN)-causing ATL3 Y192C or P338R are ...
Laura Behrendt, Christian Hoischen, Christoph Kaether   +2 more
doaj   +1 more source

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
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core   +1 more source

Group size estimation for hybrid satellite/terrestrial reliable multicast [PDF]

, 2004
This paper addresses the problem of group size estimation for hybrid satellite/terrestrial multipoint communications. Estimators based on the maximum likelihood principle are investigated.
Dairaine, Laurent, De Belleville, Florestan, Fraboul, Christian, Tourneret, Jean-Yves   +3 more
core   +2 more sources

Targeted Mutation (R100W) of the Gene Encoding NGF Leads to Deficits in the Peripheral Sensory Nervous System

Frontiers in Aging Neuroscience, 2018
Nerve growth factor (NGF) exerts multifaceted functions through different stages of life. A missense mutation (R100W) in the beta-NGF gene was found in hereditary sensory autonomic neuropathy V (HSAN V) patients with severe loss of pain perception but ...
Wanlin Yang, Kijung Sung, Fengli Zhou, Wei Xu, Robert A. Rissman, Robert A. Rissman, Jianqing Ding, Chengbiao Wu, Chengbiao Wu   +8 more
doaj   +1 more source

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

eLife, 2022
Dystonin (DST), which encodes cytoskeletal linker proteins, expresses three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e.
Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi   +10 more
doaj   +1 more source

Sensory-neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering [PDF]

, 2017
The endoplasmic reticulum (ER) is a complex network of sheets and tubules that is continuously remodeled. The relevance of this membrane dynamics is underscored by the fact that mutations in atlastins (ATLs), the ER fusion proteins in mammals, cause ...
Almeida-Souza, Leonardo, Asselbergh, Bob, De Rycke, Riet, De Winter, Vicky, Detry, Sammy, Janssens, Sophie, Kremer, Anna, Krols, Michiel, Kurth, Ingo, Lippens, Saskia, McMahon, Harvey T, Müller, Franz-Josef, Savvides, Savvas, Timmerman, Vincent   +13 more
core   +2 more sources