نتایج جستجو برای: hereditary sensory and autonomic neuropathies

تعداد نتایج: 16848591  

Journal: :American journal of human genetics 2010
Annelies Rotthier Michaela Auer-Grumbach Katrien Janssens Jonathan Baets Anke Penno Leonardo Almeida-Souza Kim Van Hoof An Jacobs Els De Vriendt Beate Schlotter-Weigel Wolfgang Löscher Petr Vondráček Pavel Seeman Peter De Jonghe Patrick Van Dijck Albena Jordanova Thorsten Hornemann Vincent Timmerman

Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe ulcerations. Mutations in the first subunit of the enzyme serine palmitoyltransferase (SPT) have been associated with HSAN-I. The SPT enzyme catalyzes the first and rate-limiting step in the de novo sphingolipid synthesis pathway. However, dif...

2013
Anna Mazzeo Claudia Stancanelli Rita Di Leo Giuseppe Vita

Autonomic function can be impaired in many disorders in which sympathetic, parasympathetic, and enteric arms of the autonomic nervous system are affected. Signs and symptoms of autonomic involvement are related to impairment of cardiovascular, gastrointestinal, urogenital, thermoregulatory, sudomotor, and pupillomotor autonomic functions. Availability of noninvasive, sensitive, and reproducible...

2016
Kyoung-Jin Park Jong-Ho Park June-Hee Park Eun Bin Cho Byoung Joon Kim Jong-Won Kim

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffere...

Journal: :Brain : a journal of neurology 2010
Haruki Koike Gen Sobue

Role of the innate immune system in the pathogenesis of multiple sclerosis. et al. Rituximab in patients with primary progressive multiple sclerosis: results of a randomized double-blind placebo-controlled multicenter trial. Differentiation block of oligodendroglial progenitor cells as a cause for remyelination failure in chronic multiple sclerosis. Retland E, et al. Differential effects of Th1...

امیری, سهراب, عبداللهی, محمدحسین, عیسی زادگان, علی, یعقوبی, ابوالقاسم,

Objectives The aim of this study was to evaluate the effect of emotion regulation strategies of cognitive appraisal and emotional suppression on autonomic nervous reactions based on high and low sensory processing sensitivity among students. Methods For this purpose, 500 students of Bu Ali Sina University of Hamadan were selected through a stratified sampling approach. Based on final score dis...

Journal: :Human molecular genetics 2004
Joy Irobi Peter De Jonghe Vincent Timmerman

Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical ...

2003
Adam Pautz

This paper is a companion to “Sensory Awareness is not a Wide Physical Relation: An Empirical Argument against Externalist Intentionalism” (forthcoming, with a reply by Michael Tye, in Nous). I generalize the argument of that previous paper. I attempt to show that, given the mild form of Internalism argued for in the previous paper, it is not only the case that the awareness relation cannot be ...

Journal: :Cell Stress and Chaperones 2020

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