Recent Blog Posts

View Post: Gene Discovery Opens Door to Further Research In Inherited ...
25 Oct 2009 by farhan bawany  
NHGRI and NINDS scientists, working together at the National Institutes of Health (NIH), found the gene responsible for Charcot-Marie-Tooth (CMT) disease type 2D and distal spinal muscular atrophy (dSMA) type V. ...
View Blog: CMT PAKISTAN - http://cmt-pakistan.blogspot.com/

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View Post: Alternative Medicine Clinics : What Do They Do ?
10 Nov 2009 by Alternative Medicine  
Infantile Spinal Muscular Atrophy (see Spinal Muscular Atrophies of Childhood) Infectious and Parasitic Diseases Infectious Mononucleosis Infectious Mononucleosis-Like Syndrome, Chronic (see Fatigue Syndrome, Chronic) Infertility ...
View Blog: Alternative Medicine Clinic - http://www.wellnessclinics.co.uk/

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View Post: IGHMBP2 is a ribosome-associated helicase inactive in the ...
20 Jan 2009 by Guenther, U.-P., Handoko, L., Laggerbauer,...  
Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress. In this disease, the degeneration of {alpha} ... Our data reveal that IGHMBP2 is an ATP-dependent 5' -> 3' helicase, which unwinds RNA and DNA duplices in vitro. Importantly, this helicase localizes predominantly to the cytoplasm of neuronal and non-neuronal cells and associates with ribosomes. ...
View Blog: Human Molecular Genetics - Advance Access - http://hmg.oxfordjournals.org/

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View Post: The G526R glycyl-tRNA synthetase gene mutation in distal ...
12 Jun 2006 by Dubourg, O., Azzedine, H., Yaou, RB, Pouget,...  
Background: Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (dSMA) is a heterogeneous group of disorders characterized almost exclusively by degeneration of motor nerve fibers, predominantly in the ... One subtype, dHMN type V (dHMN-V), is transmitted by autosomal dominant inheritance and predominantly involves the hands. It is allelic with Charcot–Marie–Tooth disease 2D (CMT2D), in which a similar phenotype is associated with sensory signs. ...
View Blog: Neurology recent issues - http://www.neurology.org/

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View Post: Deletion analysis of spinal muscular atrophy in southern Indian ...
21 Dec 2008 by Swaminathan Bhairavi, Shylashree S, Purushottam...  
SMA Type II was diagnosed when the onset was after six months of age and the child had severe symmetrical weakness (more proximal than distal) with hypotonia, severe motor disabilities, minipolymyoclonus / tremors, areflexia and absent .... Nature 1990;345:823-5. Back to cited text no. 1. 2. Zerres K, Rudnik-Schφneborn S. Natural history in proximal spinal muscular atrophy: Clinical analysis of 445 patients and suggestions for a modification of existing classifications. ...
View Blog: Table of Contents : Neurology India : 2009 - 57(5) - http://www.neurologyindia.com/currentissue.asp

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View Post: genetic disordes
17 Oct 2008 by POUSE POULOSE  
see amyotrophic lateral sclerosis#type 4. dhmn-v. see distal spinal muscular atrophy, type v. dhtr deficiency. see androgen insensitivity syndrome x. diffuse globoid body sclerosis. see krabbe disease. digeorge syndrome d 22q ...
View Blog: "HUMANMINDMANIA ENCYCLOPEDIA"... - http://humanmindmania.blogspot.com/

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View Post: ISPUB - Common Spindle Cell Malignant Neoplasms of the Skin ...
29 Oct 2009
Neuron-specific enolase (NSE) and smooth muscle actin (SMA) may be positive, while HMB45 (Figure 3) and Melan-A (MART-1) and are usually negative [10-13]. Microphthalmia transcription factor (MITF) may (Figure 4) or may not be positive ... In contrast with the usual type of AFX, the spindle cell variant is not pleomorphic, although most cases contain scattered giant cells of varying proportion [17, 18]. Sclerosis may be prominent and the lesion may be active mitotically. ...
View Blog: Internet Scientific Publications - http://www.ispub.com/

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View Post: spinal müsküler atrofi (sma)
6 Feb 2007 by Can  
infantile sma - type 1 or werdnig-hoffmann disease (generally 0-6 months). sma type 1, also known as severe infantile sma or werdnig hoffmann disease, is the most severe, and manifests in the first year of life with the inability to ...
View Blog: patososyogenetik - http://patososyogenetik.blogspot.com/

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View Post: Spinal Muscular Atrophy (SMA Disease)
6 Oct 2008 by blogger  
He was originally diagnosed with SMA Type 1; however, as he continued to outlive his doctors' predictions, the diagnosis was changed to 'presumed' SMA Type 2. You can learn more about Keith in a short documentary called The Lucky Mutant ...
View Blog: Wiki-Pedia - http://wiki-pedia.blogspot.com/

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View Post: elitsa will die if she doesn't receive a stem cell treatment ...
17 Mar 2009 by Kelli  
sma type 2, also called intermediate sma, is the most common type of sma. it allows for a longer lifespan than sma type 1, but a shorter-than-normal lifespan overall. lifespan may go until the 20s or 30s. respiratory infection is the ...
View Blog: African Superstitions - http://nigerianwitchcraft.blogspot.com/

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